Mosaic Trisomy 16
d.o.b. Feb 13, 1990

I was born on the 13th of February 1990. I was half the recommended weight. It wasn't till I was five years old I was diagnosed with mosaic trisomy 16. At the time the doctors told my parents nothing, except not to keep their hopes up for my future. We were told there were around five other people in the UK with the same condition. That was all my parents were told. I have grown up not knowing. At the start my parents thought I wouldn't live long. The doctors said they thought I wouldn't have a bright future, but I have proved them wrong. Here I am 14 years of age. And I have finally found some kind of support group. Growing up I have always been asymmetrical with problems on the left side of my body. When going through puberty I did not develop a left breast, which made me very self conscious about my body. When I was 13 I had a breast construction operation and since I have gained in confidence. I have got a good group of supportive friends, who in all honestly don't understand my condition so just I don't bother. I don't think my life has been as bad as first intended. From my life I have learnt not to duel on the negative but to get on with life, and just accept what happens or what your given because if you don't you just get left behind.
Rebecca

Rebecca's Mom's story
Rebecca tells her story best. I had a normal pregnancy until 24 weeks when she stopped growing, I had a scan. 

"All well," they said. Rebecca was born weighing 4lb 9 oz. the hospital said because she was small that I must have got the dates wrong,. I knew I hadn't, we had been trying for another child for a while so I knew exactly and couldn't have got the dates wrong especially 3 weeks wrong. The placenta only had 2 blood vessels. They took it away for testing but we never found out any results as no one knew what had happened to it. Rebecca went to special care because she wasn't feeding. she stayed there 5 days. We took her home after a week and all was well till she was 8 months old when I noticed her back wasn't quite right and that her left eye had only opened a tiny bit. We went to the doctors who referred her on to a pediatrician.The rest, I think, Rebecca has told you apart from the fact that the only reason that we got a diagnosis when she was 5 is because we asked the doctor what had caused Rebecca so many problems. Rebecca is now happy, (well as happy as a teenager can be) healthy and leading a perfectly normal life with a bright future ahead of her.
Jane

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Mosaic Trisomy 16

When I was about 17 weeks pregnant, I had an amnio performed by a perinatoligist. Because I was over 35, my husband and I were concerned about Down's Syndrome. We had never really considered any of the other chromosomal abnormalities the test could reveal. 2 weeks after our amnio we received a phone call with the news that our baby (a girl) had an extra #16 chromosome. We were then made to wait two agonizing days before the perinatoligst could meet with us to discuss the results. This really threw me into a tailspin. I cried a lot and searched around on the internet to find out as much as I could about Trisomy 16 - which wasn't much. At our meeting with the perinatologist, we were told that the extra chromosome only showed up in one of the 13 cell colonies originally cultured. 26 more cultures were done and the extra #16 chromosome never showed up again. Our perinatologist felt that it might simply be a "culture artifact" but she didn't know for sure and couldn't dismiss the fact that the extra chromosome showed up even once. The only tests that could have given us a definitive answer were invasive and carried significant risks for the baby. Our only option was to have ultrasounds every two weeks to check for any of the physical abnormalities typically associated with Trisomy 16. We also wanted to watch the baby's growth - knowing that growth restriction was one of the major markers of Trisomy 16 disorders. The first scan - done in 2D, 3D and 4D at 19 weeks showed a perfectly sized baby girl with no physical abnormalities. Each subsequent scan revealed the same. At 24 weeks (the point at which we could have terminated the pregnancy) we decided to discontinue the scans and proceed with the pregnancy as though the whole thing had never happened. However, the fear was always there that there might be something wrong that the scans couldn't pick up. Knowing this, I mentally prepared to give birth to a baby with unknown physical problems.

At 39 weeks, I went into the hospital for a scheduled c-section and gave birth to a perfectly healthy 7 pound baby girl. The pediatrician, who was familiar with our story, looked her over from head to toe and declared her "perfectly normal."At that moment, a huge feeling of relief washed over my entire body and I fully relaxed for the first time in 5 months. Because she appeared fine, we decided not to have the placenta tested for Trisomy 16.

Allison Faith (so named because the entire pregnancy took one hell of a leap of faith) is now 5 ½ months old and perfectly healthy in every way.

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Mosaic Trisomy 16

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Mosaic Trisomy 16

My pregnancy was stressful from the beginning.  I had my first ultrasound at about 7 weeks.  The first thing the tech noticed was that the embryo looked smaller than the conception date indicated.  And she noticed a blood clot next to the placenta. They told me to come back a week later to make sure the baby was growing at a normal rate and to check on the blood clot.  On the next visit the amniotic fluid level looked a little low.  I began going in for weekly ultrasounds until my doctor finally decided to send me to a high-risk pregnancy doctor.  Then one morning I awoke not feeling pregnant anymore.  My breasts weren't sore or swollen anymore.  I called my doctor who had me come in to check my progesterone levels.  Sure enough the levels had gone down and she prescribed progesterone which I had to take for the remainder of my first trimester.

At my first appointment the high risk doctor he said that everything looked good and that the baby was right on target. He suggested that since there were different techs reading the results each time maybe they each read the measurements a little differently.  We then received the results of the Alpha Fetal Protein (AFP) screening tests and we were sent to the "genetic counselor" to have them explained to us.  The counselor delivered some horrifying results.  Though our risk for Down's Syndrome was relatively low (something like 1:400) we had a 1:2 risk for Trisomy 18.  I thought this was the scariest thing I had ever heard and didn't think it could get any worse.  Boy was I wrong.  At 13 weeks they sent me for a CVS.  Waiting for those results were the longest 2 days of my life.  When the results came back that everything was ok we were elated.  We found out we were having a girl and my GYN (who no longer delivered babies) referred me to an OB to take over the rest of my pregnancy.

 That first appointment started out on such a happy note.  The obstetrician gave me a sonogram and said everything looked normal.  We were ecstatic.  I was literally paying the bill with one foot out the door when my new doctor asked to see me in her office.  It was at this point that things fell apart.  She told me that my old GYN had just called her with some more results.  While I checked out negative for Down's and T18 the genetics department had just found something else.  Something called Trisomy 16.  She couldn't give me specifics as she had never seen this before, but that the genetics department was perplexed as Trisomy 16 is not compatible with life.  I would have to have further tests.  I was scheduled for an amniocentesis at week 16.  I would have to wait three more weeks for that procedure and then probably 2-3 more to find out the results.  We were also told that we had to begin thinking seriously about whether or not to continue with the pregnancy, and that a decision would have to be made by week 24.  This was the low point.  I think I cried at least three times a day for the next 5 weeks.  My husband and family immediately started doing research on T16 since nobody could tell us what was going on.  By the time we went in person to speak with the head of the genetics department, my husband knew as much or more about the disorder than they did.  The meeting was not very helpful as we really needed to wait for the results of the amnio to find out more information.  We also went back to the high-risk doctor who told us that if no T16 was found in the amniotic fluid then we had a good chance that  the baby would be healthy  and the T16 would most likely be confined to the placenta since the fetus was still alive and looking healthy.  It was sometime between the CVS and amnio that we found Karen and the foundation.  She was so nurturing and reassuring.  She made us feel so much more positive about the situation.

Finally I received the results from the amnio and no T16 cells were found.  My high risk doctor assured us that there was a high probability that the T16 was confined to the placenta. He explained while this could cause an early delivery, the baby should be fine.  He recommended that we go have a fetal echocardiogram to check out the baby's heart for further assurance before we make our decision whether or not to proceed with the pregnancy.  We did and the baby's heart looked perfect.  We were so happy and felt more positive about our decision to continue with the pregnancy.  In our minds, how could we terminate a life that looked perfect so far?

So, from week 24 on I was seeing my regular OB once a month for regular check-ups and my high-risk doctor once a month for growth scans.  Everything was looking normal until week 30.  The baby's growth had decreased dramatically (Intrauterine Growth Restriction or IUGR) and I would have to be very closely monitored from here on out.  This meant Non-Stress Tests (NSTs) twice a week at my OB's and Doppler Tests twice a week at my high risk doctor, as well as growth scans every 2 weeks. 

My NSTs looked perfect.  My blood pressure was great.  The Dopplers began to look a little worrisome, but nothing that warranted major concern yet.  At week 32 I began showing protein in my urine which is a symptom of pre-eclapsia.  However, my blood pressure still looked fine.  At week 33 I went in for my Doppler and it concerned my doctor.  He consulted with my ob and they decided to admit me to watch me closely, both for stress on the baby and my development of what they had now determined was pre-eclampsia.  They also gave me steroids to help the baby's lung development in preparation for an early delivery.  I was told I would be in the hospital until I delivered.  I was in the hospital 2 days when the doctors decided that the baby and I were looking healthy and that they wanted to deliver me before something took a turn for the worse.  I had a c-section on November 14 and Alexandra was delivered weighing in at 3.1 lbs.  She came out crying, breathing on her own, and healthy.  She was just small. 

Alexandra was in the NICU for 2 weeks.  She needed to gain a certain about of weight before the doctors felt comfortable to send her home.  She gained weight so rapidly and the doctors were very pleased with her development.  She has been home now for 10 weeks and continues to be healthy and gaining weight quickly.  We couldn't be happier and thank the powers that be for giving us such a beautiful and healthy baby. 

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Mosaic Trisomy 16

We won't forget the phone call that started our roller coaster pregnancy. I had the standard AFP test and my doctor called to say that it came back positive with 1 in 7 odds that I was carrying a Downs baby and that I should have an amniocentesis. The 10 day wait to receive the amnio results were the longest 10 days of our lives. When our doctor called to tell us that the amnio screened positive for Mosaic Trisomy 16 and we needed to speak with a genetic counselor the following morning, we were both shocked and devastated. What was Mosaic Trisomy 16? Our doctor didn't know, and as we would find out the next morning, our genetic counselor did not even really know. All they could tell us was that the outcome would not be good.

We left the office feeling very uninformed, so we went home and searched the internet and found the Disorders of Chromosone 16 Foundation website. What a godsend! We immediately contacted Karen Lange who told us about her daughter and put us in touch with other parents who had faced our same situation.

We were scheduled for an ultrasound the following Monday; no abnormalities were found. We continued to have monthly ultrasounds. Slow growth was the only thing that was detected. At about 8 months, they thought the baby might have a heart defect, but were not sure. At this time, I also developed high blood pressure and was being monitored for that as well. Madison was an active baby the entire pregnancy, so I was sure there could be nothing wrong with her.

At about 38 weeks, I was induced because of the high blood pressure. At 1:06 a.m. on Friday, April 1 Madison Ann Voshall arrived weighing in at 5 lbs., 2 oz. , and was absolutely perfect ? April Fool's! We were elated. Our excitement didn't last for long though. They took Madison to the nursery while they got my room ready, and while they were feeding her, she stopped breathing. She had to be rescucitated and was in ICU for a week. While in ICU, they did multiple ultrasounds and performed every test imaginable to see if there were any problems related to Mosaic Trisomy 16. They found absolutely nothing. Seven days later, we took her home.

Madison is now a very active, healthy, and extremely happy 18 month old. Although she is still small (10th percentile), she has met all of her developmental milestones and her activity/coordination is even more advanced than our older daughters at the same age. Madison is living proof that a diagnosis of Mosaic Trisomy 16 does not always result in a poor outcome as first suggested by our doctors, so don't give up hope!

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Mosaic Trisomy 16

Eighteen weeks into my second pregnancy, my obstetrician called and suggested I meet with a geneticist the next day. Clearly, something major was wrong with the pregnancy. I had had an abnormal AFP and was awaiting amnio results at the time of the call. But silly me, for once I wasn't worried because I had also had an abnormal AFP with my son which turned out to be a false positive. I assumed such was the case with this AFP. Boy, was I wrong. The Tuesday after Thanksgiving, 1995, my husband and I sat down with a genetic counselor to find out what in the world mosaic trisomy 16 was and what in the world it meant for our baby. I remember that meeting so clearly. All I wanted to know was if it was a boy or a girl and no one would tell me. (Did they think it might somehow make my pain worse if I personalized the pregnancy too much?) Anyhow, I'm a pretty easy-going person, but I refused to continue until they told me the sex. A girl. For a moment, I felt at peace. Then the genetic counselor began to talk.

Beth is wonderful, a great support to our family. But that first day in her office, how I hated her. It was so easy for her to sit there and talk clinically about trisomies and mosaicism and chromosomes and all that other stuff, but it was something else to be sitting on the other side of the table with my little girl kicking away and me hearing such bleak news. At the time, there were only a handful of cases reported (ha! there still is!) and based on those articles, her prognosis was not good. Beth discussed our options, including termination. We had an ultrasound two days later and I swear she waved at us. That was it. Any talk of terminating the pregnancy ended with that wave.

Two and 1/2 years later, it's easy to look back at the remainder of my pregnancy and blot out the awfulness of it. But it was--absolutely awful. Shayna wasn't growing well, and even if she survived in utero full term, the doctors kept reminding me that it was quite possible that she would die shortly after birth or be terribly handicapped. I know some of them thought I was in denial. I wasn't. I just kept feeling her kicking . Each kick told me "I'm here, Mom. Don't lose faith." So I didn't, at least not much.

Shayna Marissa Lange was born on Valentine's Day, 1996, after 29 weeks of pregnancy. She weighed a whopping 1 lb. 10 ounces, but it was evident from her first breathe that she had a good set of lungs. Two days on a respirator and she was breathing on her own. For the first twenty-four hours, I was too scared to believe that she would actually survive. (Those doctors had done a pretty good job convincing me that she wouldn't, after all.) Gradually, I let my guard down and rejoiced in my beautiful, albeit tiny, baby.

After 13 weeks in the neonatal intensive care unit, Shayna came home. She had an ASD repair at 8 months to help her grow (it didn't), but other than that, she's doing great. That's not to say that the past two years haven't been a roller-coaster. One day she's just like every other kid, the next she does something that reminds me that she isn't just your typical two year old. Last fall she had a few seizures, this past spring she needed an MRI to rule out a brain abnormality. Our newest challenge is an as-of-yet undefined autoimmune disorder. She has OT, PT, and speech therapy weekly, but she's amazingly close to reaching her developmental milestones on time. And cognitively, she's right on target. My daughter has overcome more obstacles than most people have to in a life time, but through it all, she's been nothing short of a trouper. And to me, she is nothing short of a miracle.

UPDATE APRIL 2002 Shayna April 2002

UPDATE APRIL 2004 I cannot believe how long it has been since I have updated Shayna's story. So many wonderful things have happened in the 8 years since she was born. Shayna is now in second grade. She reads at the 4th grade level. Her math skills are pretty much grade level, but in every other subject, she is above average. This to me is amazing, considering all the doctors who told me that she would most definitely be mentally retarded or at least have some kind of developmental delay. Shayna is in every way a typical 8-year-old little girl. She loves gymnastics and hip-hop. She just performed in the school talent show. She adores her big brother, when they are not fighting. Basically, her story has gone from a very dramatic one to a pretty boring one and we love it! She still gets OT and speech in school, but both will be stopped next year. She knows that she has mt16, although she doesn't know what it means. But she hears me talking about it in regards to the foundation, so we've touched on it a little. Right now she thinks that's pretty cool because it makes her "special." She is very feisty and stubborn, but I respect that because without these qualities, I'm not sure she would have survived those terrible early times. I hope Shayna's story provides hope for those of you newly diagnosed or going through the tough early infancy stages. It does get better! I thought I would never see the light at the end of the tunnel, and now it is almost like a bad dream. Now we are living the most amazing dream ever—a happy, healthy, "average" life with our most precious little girl. Karen

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Mosaic Trisomy 16

Jailin is doing great! She turns one today. She's finally a size one in shoes. She looks like a five month old, but that's OK. Ever since I had Jailin a lot has happened. We've been through rough times. Jailin has been through her ups and downs. They put tubes in her ears because of all the infections she was having. Because her nose is so narrow in the inside she has a lot of trouble breathing especially when she has a cold.

Jailin is finally crawling like a soldier in combat; she looks really cute. They wanted her to take physical and speech therapy because she is behind in her skills. I didn't take her because it was once a week for a half hour, to do the exact same things I do at home. The funny thing is that when I take her to her appointments, she either starts doing what they said she needed to do or even more. This baby can really surprise you. The doctors are still amazed at how great she looks. Her pediatrician enjoys seeing her because she is his only patient with mosiac trisomy 16. He thinks Jailin is very unique and beautiful. I still think back to the day the geneticist told me that I only had a week left to terminate. That the baby's rate of survival was very low. That she probably wouldn't make it a year. Well, guess they were wrong!

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Mosaic Trisomy 16

After eight years of marriage we decided that it was time to start our family. In Jan 2003 my husband and I were excited to find out that we were expecting our first child. I was given a due date of Sept 27, 2003.

In April I received a call from my doctor telling me that my AFP test results came back positive and this could mean that I was carrying a child with Downs. Because I was going to be 35 in August she suggested that I have an ultrasound and amniocentesis. I was seventeen weeks at this point. We went in and were told that everything looked normal on the ultrasound and did we still want to do the amino? We decided to go ahead with the amniocentesis because of my age. We also found out at that time that we were having a boy. The wait for the results seemed endless. On Friday April 25, 2003 our world was turned upside down. A doctor called to tell me that the results came back positive for Mosaic Trisomy 16.

The doctor didn’t know what it was but based on the results from the genetic lab it meant probable mental retardation, heart defects, and physical defects. He said that a genetic counselor would call me later that day. I sat there in utter shock. One of the worse moments in my life was when I had to break the news to my husband that there was a problem with his son. When the genetic counselor called she didn’t have any hopeful information to share with us. She cited case studies from the early 90’s and all the children had major problems. The outcome would not be good. When we met with her all she could say was that this was a “fluke”.

As soon as we hung up the phone we started to research Trisomy 16 mosaic on the Internet. We found the Disorders of Chromosome 16 Foundation website. We sat there and cried reading the stories. How could our son look normal via ultrasound but have all of the horrible things we were being told. Most of the children on the web site were leading good lives; however, some had sadly lost their battle. What was in store for our son? We spent the month of May reading everything we could get our hands on – which wasn’t very much. We kept going back to the DOC 16 website for inspiration. We had many highly detailed ultrasounds and everything always looked fine with our son, other than his growth to be on the slow side. There were two Ultrasounds that I just could not bring myself to look at the screen. I guess I needed to disconnect so that I could try to think logically about what was happening. My husband was watching both times because he needed to connect with the baby. In the event we wanted to terminate the pregnancy my OBGYN suggested we meet with an abortion doctor. My husband and I made it very clear that we absolutely did not want to be in that office; but felt we had to have as much information as possible to have a better idea of what we would be facing.

At 23 weeks I had a level two ultrasound. The perinatologist did an echocardiogram and took every possible measurement. My son looked fine. The only thing that he could not detect would be a pinhole in the heart. If our son did have one that it most likely would heal on its own. The perinatologist we were seeing was so wonderful. He spent a lot of time with us going over every single detail. We had so many questions and he did his utmost to answer them to the best of his ability. It was reassuring to be told that the ultrasounds looked normal. However, they could not erase the amino results. Even though the ultrasounds were clean/normal that didn’t mean there wasn’t a chance that there could be some type of birth defect that could not be seen in the ultrasounds.

On June 1st I finally called Karen Lange. Thank god she was available to talk to me. The first words out of her mouth were that mental retardation was NOT a factor in this particular chromosomal problem. I felt that the weight of the world was lifted from my shoulders. I finally allowed myself to believe what I had been feeling all along in my heart; that the outcome couldn’t possibly be as bad as we were initially told. I also spoke with Emily’s mother & Madison’s mother that day as well. They were a huge source of inspiration to my husband and myself. They were willing to share their stories and pictures of their beautiful daughters. Too bad it takes an experience like this to meet such wonderful people. One of my regrets was that I didn’t contact the DOC 16 foundation sooner.
At the end of June when I was 27 weeks along the perinatologist did a Doppler test. He determined that the baby’s heart was working harder than normal to pump blood. He conferred with my OBGYN and they put me on complete bed rest. They felt it would be best that I had limited activity so not to cause too much stress to the baby. By week 30 I was going in for non-stress testing and amino fluid checks twice a week. My fluid levels were on the low side so I was being carefully watched. They ranged from 7 to 10. I was drinking 16 ozs of water every hour trying to keep well hydrated.

By week 33 they believed the baby to be about 3.8 lbs. His growth was still on the slow side but not very far behind on where he should be.

At 35 weeks and 4 days while I was at my normal NST the baby had a heart deceleration.

My fluid level was at 8.9. The doctors sent me over to Labor and Delivery to be hooked up to the monitor and checked out. After four hours they released me and sent me home. They wanted me to come back

The next day to have another NST. I was so scared. The emotional roller coaster that my husband and I had been on for the last four months was catching up with us. I packed my bag for the hospital and put it in the car hoping that I wouldn’t need it for another few weeks. The next day my fear was realized. During the NST testing there were more heart decelerations and my fluid level had dropped to 5. I was admitted to the hospital and the delivery nurses started me on cervical gel. The next morning they put me on Pitocin.

The entire day I was experiencing high blood pressure. The doctors would not allow me out of bed.

The baby seemed to be tolerating labor just fine but I was having trouble.

Finally at 6:55 pm on August 27, 2003 Ryan was born. Ryan weighted in at 4.1 lbs and was 18 inches long. He was the smallest, skinniest baby we had ever seen. He let out the loudest cry. We all sighed with relief. The delivery doctor passed him onto to a team of doctors and nurses they swarmed over him to check him out. I think he had more doctors waiting for him than I had. The neonatalogist came over to tell us that our son looked good. His lungs sounded healthy and he was doing very well. She noted that he had a Palmers crease in one hand. This was one of the things we had read about. It is not unusual and in fact we discovered another family member had one also. There are no words to describe the range of emotions that my husband and I were feeling; from absolute joy of seeing our first child born; to the fear of the unknown. The past months of being completely absorbed by the MCT 16 diagnosis gave way to elation as we gazed into the beautiful face of our new son.

Ryan was able to spend a few hours with us in the room before going into the nursery for the night to be placed under the warming lights in the NICU. My doctor described my placenta as half the usual size and the umbilical was pencil thin but with all three blood vessels running through it. The next day the pediatrician came to visit and decided that Ryan was just to small to determine if Hypospadius was a concern. We had to hold off circumcising him until he had grown some and would need to be checked out by an Urologist. Ryan was doing so well that he was ready to be released in two days but the doctors decided to keep me a bit longer due to the high blood pressure and fever that I developed. They gave me some medication and released both of us the next day.

The doctors decided it would be best that Ryan be bottle-fed in order for him to gain as much weight as possible as quickly as possible. Three weeks after he was born he was up to 5.8 lbs and had gained an inch! We were all so pleased. We visited a geneticist to have Ryan looked over when he was seven weeks old and she said that she could not find anything wrong with him appearance wise. She suggested that we have his blood tested to determine if he had any of the Trisomy cells. The wait for the test results seemed endless.

Thank goodness they were negative! He has had a minor problem with acid reflux and was on Zantac until he was about nine months old.

We kept telling ourselves how lucky we were that he was doing so well. He has reached all of his milestones on time or early. He started walking at 10 months! Ryan has progressed wonderfully over the last year. He just celebrated his 1st birthday. Ryan now weights 20 lbs. And measures out at 29-1/2 inches long. His doctor is extremely pleased with his development. He is a fun and happy child. My husband and I sometimes sit gazing at him with tears of joy. We truly believe he is our angel. Ryan is proof that a diagnosis of Trisomy 16 Mosaic can still mean a joyful outcome.

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Mosaic Trisomy 16

Well, it's a long one, but here goes!
It all started in January of 1999, when I had my routine MSAFP test done. I was supposedly 20 weeks pregnant. It came back too high, so the doctor figured that the test was taken too soon. I had an ultrasound to figure out the gestation. It showed that the baby was not as far along as they thought, so I had another MSAFP. This time the results came back even higher, so they suggested that I have an amniocentesis. Steve and I decided to take the risk, and had the test. It seemed like eternity waiting for the results. We told each other that everything was going to come back "normal". It was all we could do to keep our sanity.

The day finally came when we got the unfortunate and confusing call. All the technician could tell us was that the baby had an extremely rare chromosome disorder called Mosaic Trisomy 16. I remember him saying, "Well, it's not Downs Syndrome!" (They should give these people a class on how to be a little more compassionate on the phone!) He said he didn't know anything about it and that we would have to talk to a doctor to find out more. We made an appointment with a genetics counselor. She didn't know much either, but said that she would help us try to get some info on our daughter's disorder.(We found out while we were there that we were having a girl!) We told her that we mentioned the name of the disorder to my mother who went on line to see if she could find anything there. Well, she found THIS awesome site, which told us more than anyone else could!

So, our counselor checked it out and I believe she spoke to Karen a few times. Karen sent her the info she had on some other similar cases and our counselor showed them to us. Now we had something to go by! We had a serious discussion on the possible anomalies our daughter could have and yes, the "A" word came up. We knew that there was no way we could abort our child. We left it up to God! If He didn't want our baby to be here, than He would have to take her! A couple of people in our family didn't agree, but everyone else was very supportive! Well, we had to be prepared for our baby's birth to be any given day, since alot of other babies were born pre-mature.

Time went by and I stayed pregnant, we were very well cared for. The doctor's were taking every precaution they knew to. I would also like to add that NO doctor we went to had ever heard of this disorder, we had to bring every bit of info to them!

My doctor decided to induce me 1 week early if I hadn't already gone into labor. That would have been June 28th. Well, my water broke on the morning of June 25th. The fluid was very blood tinged, my placenta had already started to detach. They watched me closely and towards the end of my labor I had to use an oxygen mask for the baby. Other than that, there were no other complications. When Kerah was born(weighing 5lbs 4 oz and 17-18 in.), she needed a little oxygen, and then a little more here and there through out the day. They looked her over and decided that she was in no real danger, thank God! We are not sure what Kerah received on her APGAR test. Kerah had trouble eating at first, and her blood sugar level was very low, but that all got better a day or two later. We actually got to leave the hospital on the afternoon of the 27th!

I should also mention that Kerah had some x-rays a couple hours after she was born. They thought something was wrong with her spine. We were told that she had some scoliosis, then later that she didn't, and again that she had just a touch of it. So we don't know for sure which it is. We do know that she had a 2 vessel umbilical cord, and that the cells of her disorder did show up in the placenta. Her doctors said that there's no point in doing a skin biopsy because all it will do is confirm what we already know. I, on the other hand would still like to have it done.

Some of her anomalies are: 2 small VSD's (holes on the heart) that supposedly are closed now; dextrocardia-her heart is off center and tilted the wrong way; asymmetry-her whole body, eyes, ears, nostrils, arms, legs...are not the same size as the other, even her hair is different on both sides of her head, and because of this she has to have an ultrasound of her kidneys every 6 months, because 2% of all people with this anomaly will develop tumors in their kidneys; congenital glaucoma-she's had surgery for this and it is temporarily fixed, she may need another one in the future; she is taking 2 inhalers twice a day to help keep her RAD(formerly known as asthma), under control, ever since she's had a bout of RSV, she's had to be hospitalized and put on oxygen and nebulizing treatments any time she had a cold, but these new inhalers, so far, are doing the trick.

Those are the main ones. Kerah has had numerous chest x-rays and an ultrasound of her kidneys-which came back normal, a CT scan, barium swallow studies, and an MRI-the top of her spine didn't close properly, but everything seems to be with in normal ranges. She is currently taking PT and Speech, she also had OT for over a year and progressed well enough to stop that for the time being.

It's amazing how far she's come with all her therapies, no one can even tell that she's a special needs baby. She's almost 2 now and she's more spunky than ever. She's still very petite, but at least we got her from under 5% to over 10%. Cognitively she's doing fine, it's hard because she can't express herself as well as "normal" kids her own age. We are learning sign language and that helps alot! She can sign around 15-20 words now. It's definitely looking more and more like Kerah is going to lead a normal life.

I would just like to thank Karen and all the other parents for sharing their stories, they really helped, and I would like to do the same! So for all the other struggling parents out there, please don't give up hope, we all know what you are going through, it is hard, but you and your children can make it!

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Mosaic Trisomy 16

Madison was our second attempt at starting a family; our first ended abruptly with a miscarriage at seven weeks. So we were very excited when the pregnancy test confirmed our suspicions. Everything seemed to be going smoothly until an AFP test was conducted at 15 weeks. The physician had left a message on the answering machine to call him. The news we received was certainly not what we expected. The test showed that there was a 1 in 65 chance that the baby had Trisomy 21 (Down Syndrome). We traveled to Little Rock, AR to have an amniocentesis conducted by an obstetrician who specializes in high risk pregnancies.

When we first arrived, we met with a genetic counselor who explained Trisomy 21 to us. It was the most depressing meeting for us because we tried to have hope that everything was going to be OK. However, the counselor was trying to prepare us for what might happen. When the exam started for the amnio, the sonographer placed the ultrasound wand on my stomach. Madison looked one way, than the other as if she was looking for us. We laughed and knew at that point that everything would be all right regardless of what we faced. When the results from the amnio came back it showed that Madison had mosaic trisomy 16.

The genetic counselor was able to locate a woman in Illinois who had a registry of mosaic trisomy 16 babies. She put us in contact with Karen Lange. Prior to talking to Karen we felt as if we faced this genetic disorder alone. There were no resources available and none of the physicians we were seeing were familiar with it. Karen explained some of the challenges she faced and sent us pictures of Shayna and numerous research articles. We felt like we finally had a resource and also had information to educate our physicians. Those pictures of Shayna would serve as a source of inspiration during the difficult times we faced in the months to come. Around the 29th week they noticed that Madison had an irregular heartbeat. An exam would reveal two ASDs, which are common in trisomy babies. The also began to notice growth retardation as Madison began to fall behind on measurements.

The OB induced labor at 36 weeks and Madison was born after nine hours of labor. She weighed 5 pounds 11 ounces and was 18 1/4 inches long. Our prayers had been answered; we had a healthy baby girl. Madison is now 6 months old. According to her cardiologist, one of her ASDs has closed and he anticipates the other will without surgery. She has grown rapidly and currently weighs about 16 pounds and is 25 inches long. She does show some asymmetrical growth and possibly has mild scoliosis. We have recently noticed that her left arm and hand are about 1 cm larger than her right. She attends therapy on a weekly basis to build strength and meet benchmarks appropriate for her age. After we received the results of the AFP our physician and genetic counselor had discussed the option of terminating the pregnancy,. This is a difficult decision that everyone in this position faces. For us, it has been well worth having Madison. Seeing her big smile first thing in the morning confirms our decision.

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Mosaic Trisomy 16

Megan is now (1998) a very social, happy, and smart four year old. She's small (28 lb.) but her personality makes up for it. She attends preschool and is a very normal four year old.

We were told when I was carrying her that she would not make it, or have serious mental and health problems. She has neither. She's at this point looking forward to being a big sister again (for the second time). My second child has no problems at all. Recurrence of the disorder in future pregnancies is less than 1%, higher than normal pregnancies because we have a child with the disorder, but still very low.

UPDATE JANUARY 2003 Megan • 3rd Grade

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Kevin July 2004

Mosaic Trisomy 16

My husband and I decided to conceive during the summer of 2002, and have the baby in 2003. We were successful and very happy when the hpt was positive. Our first OB appointment was the week of July 4th. We saw our little butterbean for the first time on an ultrasound, at 6 weeks. Around 12 weeks, it was suggested that I be tested for AFP, but we decided to just go straight for the amniocentesis. I had the amnio done at 16 weeks, only because of my advanced maternal age of 37. Results came back positive for mt16, approx. 1/3 of my son's cells were trisomic on chromosome16. We were devastated, as we had never heard of this. We met with a genetic counselor in ! Atlanta, who also knew nothing of mt16. She did some research, and gave us some info. She basically said the baby would likely have heart defects, mental and physical retardation and most likely I would have premature labor, which would only add to the problems. From everything we had read, it seemed the best thing would be a termination of the pregnancy. We found the website, trisomy16.org, and read all the information we could.  We chose not to terminate, because we believed God had a better plan than we ever could, and whether our baby died in utereo or was physically and/or mentally handicapped, we were determined to give him a chance to grow and to be born.

We went back to the Trisomy 16 website, again and again, looking for something positive, something to give us hope. Karen mailed us lots of useful and helpful information, with stories written from courageous hearts. While some made us hopeful, most made us cry. Through all the heartaches, operations, deformities, and death, they all carried the same resounding tone of love. None of the mothers regretted carrying their babies to term, or until whenever the pregnancy ended. Nobody wrote about regrets. All wrote lovingly about their babies and their stories. We were still afraid for our baby, but we were more encouraged each time we read the mt16 stories.

Judging from everything we read through our limited research, it appeared that the main issue with the mt16 is the restriction of the blood flow through the umbilical cord, which in turn causes the baby's body, heart and brain to have developmental issues. We did the echocardiogram to check out baby's heart at 24 weeks, it was normal. We had growth ultrasounds done every 3 weeks, and they appeared structurally normal, except baby was always in the less than 1% in growth size. Even though our baby wasn't growing on track, we held on to hope. We knew we could accept whatever happened.

I wasn't gaining much weight, and neither was baby. At 36 weeks, and the baby at 3 1/2 lbs, the doctor decided my baby needed to come out. We had a c-section on Jan. 22, 2003. Baby Kevin came out crying. He was perfect in every way, except he was small, at 3 1/2 lbs. and 16 inches. They checked him for every imaginable illness, and deformity and only found one,  he had a Y-configured uretha duplication.  A pediatric urologist was called in, and he determined the problem could be fixed with surgery. His uretha is atropic, meaning it has died, due to non-use. Dr. says Kevin is the 3rd case of urethra duplication he has seen, and the other 2 cases did not have mt16. So, it may or may not be related to the mt16. He stayed i! n Neo-Intensive Care Unit, for 3 weeks, until he could gain up to 4 lbs.  They discharged him, and we brought home our perfect little baby.

Kevin is still small for his age,  but he is perfect is every way. He is developmentally right on target for his age. We chose not to have Kevin checked for MT16, nor did we test the placenta. The cord blood tested negative for MT16. The nurse noted after birth that the cord appeared to have three vessels, but were narrow. Mentally and developmentally, Kevin is perfect.

Update August 2004 We saw the pediatric urologist for a Cystoscopy, which is a procedure to look inside the urinary tract via the urethra. Kevin was put to sleep for this. Kevin‚s uretha is atropic, and he needs surgery to reconstruct it. Right now, we are justing waiting∑. Trying to decide if we should have the surgery done or not, and if or when. Kevin sees an endocrinologist to see if he has growth hormone issues.  Kevin is currently on Levo-thyroxin once a day to see if it may raise his growth hormone levels (growth hormone) He is not much of an eater, as he seems to be very sensitive to textured foods, and gags often, but we continue to offer a bottle of milk or baby food every 3 hours. He is also on a low dose of Bactrim  to prevent urinary tract infections. He has not been sick at all since he was born. No cold, no fever (except for teething), no runny nose, no coughs. He is very active and normal in every other way.

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Mosaic Trisomy 16

[ed. note: English is not Charrelle's mother's first language so some of the information does not translate perfectly.]

With 7 weeks of pregnancy I had a echo because I lost some blood, I was 100% sure that I was 7 weeks but they saw only an empty bag so they said that I had a miscarriage.

One week later I had another echo and they saw a little heartbeat!

I was 6 weeks pregnant instead of 8 weeks. So I had a positive test when I was 1 week pregnant and that is strange...

At 17 weeks I had another echo because I was afraid that the baby not was healthy,

But everything was all right (the baby was too small afterwards).

At 28 weeks I had another echo because the baby was too small and I had a high blood pressure (hypertension) So I went to the gyn and she said that the baby was too small but not that small that she had worries. I had also had a ctg (A babymoniter to register the baby's heartbeat in the pregnancy) and that was not good. It had a straight line (too low activity) and my blood pressure was higher! I had to come back the next day and it was again not good so I had to stay!

My gyn thought that the baby had 2 vessels instead of 3 so I had to go for a screening echo. He told me hat the baby just was small and she had 3 vessels but 1 was very thin. I had to come back a week later. Again he said everything was all right. He did suggest we check the amniotic fluid, so I did.

At 32 weeks I had go to another hospital with a neonatal division because sometimes the baby's heartbeat became low and my blood pressure became very high.

In that hospital I heard the news that the baby had trisomy 16 mosaic. They could tell us very little about that: she would probably not survive or she could be heavily handicapped,
The geneticist also told us that I might want to go home so that the baby could pass away in my belly, warm and safe with no noise and no cold and no needles.

2 days later I was back to stay in my old hospital because I had pregnancy poisoning (preeclampsia)

I had also a conversation with my gyn (I still will be a fan J ) and the paediatrician. They asked if we sure about our choice, so we told our wishes and decided that we will try get the baby born alive.

I had at the same time a Ctg and that wasn't good at all! I had felt her very little, so I had a emperor incision, that was the only time I was not afraid and I knows that had everything had to come alright. So there she was born at 33.6 weeks pregnancy 1305 gram and she did it perfect!

First they heard an extra heartbeat but that went a few days later and the heart echo was good.

She went home when she was 6 weeks and 2305 gram.
Despite everything I had a great time in the hospital. I fought back the fear with humour.

I would like to thank Dr Zandvoort and Dr Fick for the help, care, support and the laughter.

And now? Charrelle is doing fine! You find nothing about her with the trisomy. She is 10 months old and weighs over 12 pounds She is a easy baby who is always happy. I'm the happiest person in the world because she is still with us.

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Noah

Mosaic Trisomy 16

I found out the news, which we waited to hear for 5 years, that I was pregnant on July 6th 2001. I was so excited, worried, scared and in shock!! But that baby could not have been more loved, and more wanted, from that day on. We fought for that baby, and we were going to do everything we could to keep it!

We had the routine AFP test done in the end of September. I had done it with our first son, and it had come back normal, I expected nothing less from it this time. Also, figuring that if it came back with something wrong, they would call before my appointment.?

I went in for my routine appointment - and got the shocking news. The AFP test had come back with a DOUBLE positive! A 1:165 chance for Downs Syndrome and a 1:98 chance for Spina Bifida - how it could come back with both, I don't know, but it did. We decided to have an amino done to find out for sure what was wrong.... and get the side benefit of finding out if it was a boy or a girl.

We went in for it on October 16th, and ended up not getting it because my Doctor was doing an emergency c-section. So, we ended up having it on the 19th.?? We went in on the 30th, the day before Halloween, to find out the results. I was scared, but yet I wasn't. I knew everything was going to be fine, no matter what. We got in there, and he told us the baby didn't have Downs or SB, but something called Mosaic Trisomy 16. I didn't expect it, but in a way, it didn't really shock me either. Then he said "Oh, and by the way, it's a boy!".... I came home and started doing some homework - and was scared when I found nothing on it. And then I found the DOC16 site, and my salvation in knowledge!!

It was an interesting pregnancy - with lots of little things going on. The baby's fluid was low, and the placenta small and obviously not doing it's job because the baby was very small for it's gestational age. If it wasn't for the support of my family, friends, doctor and Karen - I don't know how I would have made it through all the unknowns. Even though we were asked, there was no way we would "terminate" our pregnancy with our miracle baby. We heard his heartbeat for the first time when he was 6 1/2 weeks - he was so beautiful on the ultrasounds - and he even waved and smiled at us on the ultrasounds. And everytime he kicked, it was a reminder, "Hey, I'm here! I'm ok!!"

On January 28th I went in for a NST (non-stress test) and my blood pressure was up. I was having contractions, and the baby had a heart deceleration. I was told to take it very easy and to come back the following morning for another one. So, on the 29th, I dropped my son, Calahan, off at school and then headed to the DRs. I thought it would be the same as the day before - my 1/2 hour to hour appointment taking another 3 hours. I never expected what happened... my blood pressure was very high, and our baby had A LOT of heart decelerations. My DR sent me straight to the hospital after giving me the first shot to help mature the baby's lungs. I was very scared, but hoping to go home.

But I never did. I spent the rest of the week in the hospital, on the fetal monitor 24 hours a day, getting my blood pressure checked very often, and watching the baby's heartbeat drop again and again. I had developed Pre-eclampsia quickly, the baby was having more heart decelerations, and there were a lot of other little red flags going up - stressing it was time to get him out, before something happened. The last straw was the amino done on the 31st of January, when the fluid had come out a pale yellow, instead of clear.?

The morning of February 1st, my Doctor told me that he was no longer giving me the choice of staying or going to the high risk hospital 2 hours away, with the much better NICU - I was going. I wouldn't deliver that day - they would probably do more tests, including another amino.??

I arrived in Marshfield sometime before noon. Whisked away into Labor and Delivery, and then set up on the monitor, given an ultrasound and they took blood. Then the team of Doctors came in, and told us. "We are going to deliver you TODAY!"

Noah Alexander was born at 3:45pm on February 1st, 2002. He came in weighing 1 lb 12.2 oz and was 13 3/4 inches long. My pregnancy had ended at 33 weeks, he was 7 weeks early. We didn't even know he was out - they didn't even let him attempt to cry. And we didn't see him until hours later. But everyone came in, telling us how beautiful he was. All I wanted, was to hear him cry!

Noah spent 6 1/2 weeks in the NICU in Marshfield, WI. Mom spent that amount of time at the Ronald McDonald House. I can't praise both enough. Even though we had good and bad days, hard and easy ones, it ended up turning into home away from home.?

Noah started breathing on his own at 36 hours old, and I heard him cry that day. He had/has minor problems - but no one knows if they are because of the MT16 or if they are because he was a preemie. He has a heart murmur, 2 holes in his upper chambers, and 1 in the lower. He has an umbilical and groin hernia. He had an enlarged right Kidney. He has a condition called a hypospadious - where the urethra is on the underside of his penis and not the tip. He also has a "natural circumcision." He had a little excess fluid on his brain, but nothing that was causing damage and we were later told that it was a "variation of normal." His eyesight is really good, except that his left pupil is egg shaped (currently) instead of round. We were told this would probably fix itself in time. His hearing is questionable, he passed on the right, but not on the left. We are still, currently going through testing on that. Most of the times I would only hear the DR tell me, for report in the morning, "Well, we're just waiting for him to grow!" They did testing on his placenta, and blood after he was born. The placenta contained 100% MT16, and the blood contained 0%. We are still waiting on his skin graph.

Despite all those little things, he is so beautiful and wonderful, and I thank God everyday for my perfect little baby! He came home on March 18th, the day after his St. Patrick's Day due date. He came home weighing 3 lbs 10 oz. He ended up back in the NICU for 5 days due to a cold. But we are back home now, and he is doing wonderfully!! He's growing everyday, thankfully, and he's being closely watched. Currently (4-4-02) he is 4 lbs 6 oz. And just barely fitting into preemie clothes. I have high hopes for his future, and him.?

Thank you for reading our story, as it is, so far.

Update November 2003 It's been about a year and a half since Noah's story left off. He's now 21 months, 17lbs 8oz and just shy of 30 inches. He's had trouble gaining/maintaining weight. But regardless, he keeps moving up in diaper and clothes sizes so something must be happening! Medically he's doing amazingly well. He still has his heart murmur, although sometimes faint or hard to catch, he's being re-checked in a little over a year. His cardiologist was giving him until he was 3 for it to close up, and if not we may have to discuss surgery. His umbilical hernia he had healed on it's own. The groin hernia he had repaired in July of 2002, and he not only had it on one side, but both sides. He healed wonderfully from that. His Hypospadious was repaired in March of 2003, which also went well, and he healed fine from with no complications. He has an extra little dimple at the top of his behind, and they've seemed to always be concerned about that. First they had mentioned a form of Spina Bifida, and then ruled that out, and the newest thing was they thought the end of the spinal cord was wrapped around his pelvis in some way. Neurologically he's still having some issues. He still seems to have some problems that were present at birth, but nothing really that they are concerned about. Except they believed, since the back of his head is flat, and he was born like that, that he may have had some premature fusing of the sutures in his skull. So he had to go through MRIs, CT scans and Ultrasounds. So they checked his skull and his spine with those, and found out his spine is fine. His skull is starting to fuse together in the front (forehead area) but not the back. They don't seem to be overly concerned about this, but want to keep a close eye on him. Hearing we still aren't sure on, but we know he hears fine, and he's talking so we assume there isn't anything wrong. He did have a lot of fluid build up, and small ear canals until recently and that may have something to do with the numerous failed tests he had. He only had one he passed, and he was put out completely for that one. Now his ears have cleared up and he hasn't gotten an ear infection for 6 months (he was getting them every other month and was on the verge of tubes), so we'll see when he goes back for yet another hearing test. We did get his skin graph back, from the MT16 testing, and it had 3 out of 30 cells with the extra 3ed chromosome. Not that anyone knows what this means, but it is what it is. The amino was 3 out of 10 cells it was present in, I believe. The placenta was 100% MT16 and the Cord Blood was 0. Now beyond the medical things, he's a smart spunky little boy with an attitude to boot, despite his small size! He's just begun to walk 4 weeks ago, and he's got a vocabulary of around 30 words! He finally got 4 teeth since July and is finally starting to eat better. We had problems in the eating area, and continue to, but they aren't as bad. (Gagging Reflex mostly) He has been getting physical therapy for a little over a year now and started Speech Therapy early this year, and thrives in both. His Physical Therapist calls him the highlight of her week! Everyone is so amazed by this little boy who is so endearing and precious, that not many in the medical community would have thought would be was advanced and wonderfully healthy (not to mention alive) as he is! I can just look at him, still, and be amazed to tears by him! It started out as a scary journey, but has been a blessing of a miracle who has touched many people. Things might not be easy at times, and hurdles maybe high, but in the end - it was ALL worth it!

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Mosaic Trisomy 16

I was hospitalized right after the 31st ultrasound appointment. The baby hadn't grown much and they detected that her heartbeat was dropping occasionally. I was there for a week, having at least two non-stress tests a day, ultrasound (to check the fluid level), twice a week, and of course, I was on bed rest. As the heartbeat was getting stable, I was discharged a week later. The 33rd week ultrasound determined that the baby had grown only a little bit, so the specialist decided to do another amnio to check for the maturity of her lungs. The result was “just matured.” I was scheduled for a c-section on the 18th but the special care nursery was too busy that the baby would have had to be sent to Vancouver, which my specialist didn't want. So he rescheduled me for Friday, July 20th.

That morning, I woke up with some pains coming from somewhere around the stomach area. I thought I had bad gas but felt really uncomfortable. I rushed to the bathroom and noticed that I had started bleeding. I had two miscarriages before and simply thought, the baby has died again.” I woke my husband and phoned the hospital. They told me to come straight to Labor and Delivery. We got there at 3:15 am. It was such a relief to hear her heart beating after the non-stress test. I gave the nurse the pad I was wearing and she said my water had broken. They arranged an emergency c-section at 8:00 am. My baby girl was born at 8:28. We heard her crying actually before seeing her, which was quite something for both my husband and I. The pediatrician examined her right away. She didn't need an oxygen mask of any kind for assistance; she was just small. When he said, “she's normal,” we couldn't believe our ears.

Sejia's birth weight was 2 lbs. 13 oz.. Her arms and legs are still skinny but she's been trying to catch up. She stayed in Level II until she was 5 days old. Now she's in a level I nursery and doing great. All the tests they have done so far, except the ones related to the chromosome that we are still waiting for, turned out to be normal. All the doctors and nurses seem so surprised by how normal she is, just small. The pediatrician who has been looking after her said to me she's normal and the results we will be getting in the next week are not going to change that.”

Both my husband and I are happy to see her alive, as I was preparing for the worst. He is totally in love with his daughter. I'm so happy about the fact that I found you, Karen, in the right time. I really appreciate your support during the pregnancy. Holding her in my arms and looking at her makes me so proud and relieved. I wouldn't have known that there was any hope without finding you web site. Our daughter is a living miracle and I'm glad to be part of it!

April 2004 Seija has been doing great. Just turned 18 months and walking, running, talking some words, signing (we started teaching her sign language when she was around 8 months old and now she knows at least 15 of them), humming at least 5 songs that we can tell. Her father is a singer so I think she got that from him. She has not started talking as we would like her to be but I believe the time would come. I have been talking to her in my first language and I also heard that could delay the child's speaking ability but once she starts talking, she can distinguish two languages without any difficulties. The genetic specialist we were seeing told us last November that he doesn't need to see her anymore but he would check with her GP to see how she grows. She is still smaller than most of her peers but I am happy that things are turning way better than we can imagine. I really thank you for your support during my difficult pregnancy. I have no idea what we would have done without you. Now I am expecting our second child and it has been a pretty normal pregnancy. Seija is going to have a baby brother (seems like we are going to have a boy) in end of July. Attached is a picture taken after her first birthday. I lost my digital camera last month so lost all the pictures from Christmas. I am still upset about it... Take care!

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Mosaic Trisomy 16

d.o.b. 26th August 1999

When I discovered in March, 1999 that I was pregnant I was delighted, and all went well until I had a routine maternal blood screening test at 16 weeks. This showed that I had very high levels of HCG in the blood, and a 1 in 11 risk of Downs' Syndrome. An amniocentesis was carried out a week later, and the results showed that 52% of the cells in the amniotic fluid had an extra chromosome 16, with the remainder being normal.

My obstetrician was very sympathetic but said if the baby did indeed have trisomy 16 cells (as opposed to the condition being confined to the placenta) the outlook was extremely bleak. We could expect the baby to be mentally handicapped and have a wide range of physical problems, if it survived at all. Because of the rarity of the condition, I was referred to Guy's Hospital in London, one of the UK's leading centres for neonatal medicine. Although they had never dealt with anyone with the condition before, their prognosis was much the same as our local obstetrician's had been, and they advised us to consider a termination. Naturally, my husband Cyman and I were devastated. We had been trying for years to have a child (our older son was conceived by IVF) and this was a desperately wanted baby, but we were being advised that the chances of the baby having a good quality of life were extremely slim. The picture was complicated by the fact that ultrasound scans carried out at the time did not reveal any physical problems with the baby (although it was still very early days). How could I take the risk that I might be aborting a healthy baby? We told the doctors that we needed time to think.

Over the next few days I spent hours on the internet, trying to find any information at all on mosaic trisomy 16. Eventually, I managed to track down the DOC16 Foundation, and got in touch with Karen. Although she had no magic wand to wave, she was able to give me a more balanced view of the risks, and sent me all of the research material that was available. This was the first time that anyone had suggested to me that the outcome would not necessarily be all bad. After much heart-searching, we decided to continue the pregnancy, and that I would have scans every 2 weeks to see if any major anomalies in the baby's development could be seen. The obstetrician advised that if major structural problems were evident, then the pregnancy could be terminated at any time up to the 24th week of pregnancy.

In the end, all of my scans were fine until week 23, when a coarctation of the aorta was diagnosed. By this stage, however, I had seen the baby so clearly on so many different scans, that he (I could see he was a boy!) was now very definitely a little person. There was no longer any question of us ending the pregnancy, and we decided to carry on. It was actually a relief when we passed the 24th week, and the option to terminate was no longer there.

The next few weeks were a nightmare roller coaster of emotion. Every day we agonised over what the future might bring, although all looked well on the scans. Then unexpectedly, I went into premature labour on 24th August and our son, Cameron, was born 2 days later at 28 weeks gestation, weighing only 1lb 12oz. The birth itself was awful - Cameron had a prolapsed cord and so was delivered by emergency ceasarean section. At birth he was not breathing, and his heart had virtually stopped, but he was successfully revived and put on a ventilator, where he remained for about 2 weeks.

To say that the days and weeks following the birth were up and down would be an understatement! Immediately after Cameron was born, we were relieved to be told that the doctors could detect no structural abnormalities at all, except for the coarctation, which should be easily rectified by surgery. However, we were told 24 hours later that the traumatic birth had caused him to have a grade IV (the most severe category) brain hemorrage, and that there was a severe risk that this might cause cerebral palsy.

Over the next few months Cameron caught a series of infections ? 2 bouts of pneumonia, 3 bouts of sepsis, heart failure, RSV bronchiolitis, flu and septicaemia, most of which seem to be relatively common in premature babies. He would come out of hospital for periods of time, only to wind up straight back in intensive care whenever he got a cold or other minor infection, which would invariably turn into something worse.

The prolonged ventilation that Cameron needed during these periods of infection has scarred his lungs, and he consequently now has chronic lung disease of prematurity. This in turn has caused pulmonary hypertension which was causing him to have periods of life-threatening oxygen desaturations (his oxygen levels would plumment from 95% to less than 10% in a matter of less than a minute), and he needed aggressive resuscitation to revive him, many many times. Strangely enough, this is now being treated with Viagra (really!) which he takes 4 times a day, and which seems to have had the most marvellous effect on his health. Since starting the viagra, he has not needed any further hospital admissions, and is catching up fast on his development at home.

On many occasions we were told to expect the worst, but he pulled through all of the crises - one way or another he is very determined to be here!

Cameron is now almost 10 months old (corrected age 7 months). He is still very small - he weighs 12 and a half pounds and is 58 centimeters long. He was at home (in between frequent hospitalisations for infections!) on oxygen for the first few months, but came off the oxygen about 2 months ago (after the Viagra was started). We are told that his lungs will improve further as he grows, and this should resolve the pulmonary hypertension and heart failure. Certainly he has much more bounce and energy in him now than he had a few months ago. Cameron is only the second baby in the UK (and the 5th baby in the world) who has been put on Viagra, but the results are so promising that a proper trial of the drug for use in babies is now underway.

There is a suspicion that there is something not quite right with Cameron's optic nerves (the opthalmologist said they looked a bit unusual), although he can clearly see, and is very interested in playing with his toys (and watching the television!). His hearing is normal and he has no structural defects at all, other than the scarred lungs.

The coarctation that he was supposed to have seems to have disappeared, and a cardiac catheterisation has shown that his heart is essentially normal.

It is still too early to tell whether Cameron is going to have cerebral palsy - although his physiotherapist is now fairly sure that if he does, it will only be to a mild degree, as he is doing OK on his developmental milestones. He can roll over, laugh and is almost sitting up (he can manage it for about 10 seconds, before losing his balance). He probably doesn't have his head quite as well under control as an average 7 month old baby, but he is not far off, and it is hardly surprising that he is very slightly behind when you take into account the illnesses that he has had. The one remaining problem that we have is feeding ? although he used to be totally breast and bottle fed, Cameron now refuses to take anything by bottle at all and is being fed by NG tube. The jury is out on why this is - whether he does not like to feed, cannot feed, or is just plain lazy! Seeing as he has fed perfectly well in the past, it seems the last option is the most likely!

Despite all the ups and downs we have had, Cameron is an absolute joy. He is a wonderfully happy baby, and the first time he smiled at us (aged about 4 and a half months, or 8 weeks corrected age) made all we had been through worthwhile. He looks very much like his brother (who is fiercely protective of Cameron).

We still don't know for sure whether Cameron does have MT16. Blood tests have shown all normal chromosomes, but we know that the trisomic cells often don't show up in the blood. The doctors believe that maybe only the placenta was affected (but unfortunately it was destroyed before it could be tested) - maybe we will never know for sure.

It seems a bit ironic that the only significant problems that Cameron seems to have ended up with stem from prematurity and his traumatic birth, rather than from MT16. We don't really know what the future holds for Cameron, although we remain very optimistic that one day he will lead a fulfilling and independent life. Whatever the outcome, there is no doubt in our minds that we made the right decision in continuing the pregnancy, although I would never condemn anyone who chose differently.

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UPDATE OCTOBER 2001 Cameron is doing pretty well. He is now 2 and is still very small (about the size of an average one year old - 23lb and 31 inches tall). Physically he is doing really well and he is running round and in to everything! His speech is rather delayed (he only says about a dozen words) but he seems to understand most of what you say to him. The big remaining problem is his continuing refusal to eat or drink - which means he is still tube fed. The heart and lung problems seem to be behind us now. Overall, he is doing great and is a lively and mischevious little boy!

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Mosaic Trisomy 16

Sixteen weeks into my wife's pregnancy (approximately May 1991), my wife (Linda) received a phone call from her doctor saying "schedule an appointment with some specialists at Mayo Clinic ASAP because our baby's head shape didn't appear normal on our first ultrasound." We waited at least one week before getting an appointment at Mayo Clinic with Dr. Nye. After extensive tests and more ultrasounds, we were told Veronica had "mosaic trisomy 16" and that her prognosis wasn't good. Dr. Nye stated a miscarriage, stillbirth, or a baby born with many problems (breathing, mental retardation, etc.) were the most likely scenarios based on research involving mosaic trisomy 16.

We were encouraged to consider abortion because of the expected poor outcome. We didn't feel abortion was the right thing to do, so we chose to bring Veronica into this world regardless of her prognosis. No one allowed us to get out hopes up and believe we would have a positive outcome. They (medical professionals) believed we needed to face the reality that the research suggested would happen to Veronica. We enlisted the support of our church in prayer for Veronica. On 10/19/91. Veronica Rose was born at 3 pounds 11 ounces. She came early (5/6 weeks) which we were told lessened her chances of surviving. However, after four weeks in the hospital, we brought her home to live or die with our family.

Fortunately, Veronica was a "fighter" who is now doing very well (6 years old) in kindergarten. She isn't in any way learning disabled, but she does have a "lazy eye" which is being corrected by patches and glasses. She is very petite (41 1/2 inches tall; 36 pounds) in size, but overall, we feel blessed that God gave us every minute we've had with her.

UPDATE OCTOBER 2004 Veronica is currently in the 7th grade. She made the "A" Honor Roll for all four quarters last year, and is currently trying out for the tennis team. She hopes to go our for track in the spring. On October 19, she officially becomes a teenager! She is doing extremely well.

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Mosaic Trisomy 16

We were elated to finally find we were pregnant after almost two years of trying to conceive. We just could not believe that it finally happened! Finally, a family...

Our dreams were crushed on Valentine's Day, 2000, when my doctor called with the results of the amnio, which had been recommended after my triscreen test came back abnormal twice. The doctor would not tell me what was wrong, just that there was something wrong with the baby and that she probably would not make it to term. We saw him in his office that afternoon and were told of the trisomy. We were devastated.

We immediately went in to see the genetics department at St. Mary's Health Center in St. Louis, Missouri. They tried their best to explain what was going on, even though they really did not have many answers or much information for us. We felt so alone and lost and desperate. All of the cells in the amnio were affected, so the outlook was very grim for us.

We chose to continue with the pregnancy; if this baby was not going to live, it would not be by our hands. The next few months, however, were very difficult. Lots of our friends were pregnant, lots of baby showers, lots of tears. We did not make any plans for the baby, did not prepare the nursery, etc. We did found out the baby was a girl, and we named her Emily Marie. The pregnancy was monitored closely by ultrasound, and she kept growing. A heart defect was found, but the doctor labeled it mild. In April, we met with one of the doctors at St. Mary's and he said to plan on a normal delivery! We could not believe our ears! Those were the only positive words we had heard since February.

On May 21, 2000, while vacationing at a nearby lake, my water broke at 5:30 a.m. I think that was the most scary moment of my life. I was so scared we had lost her! I was taken to our local hospital and then transferred to St. Mary's. I was on complete bed rest. By Saturday, Emily was not looking good on the monitors, and the doctors decided it was time for her to be born! I was so scared; we still did not know if she would make it or not.

Emily Marie came out with a loud cry at 3:36 p.m. Saturday, May 27, 2000, weighing 2 lbs., 6 oz. She was whisked away immediately, BREATHING!!! I cannot even explain the relief I felt that she was alive. Emily was in the NICU at St. Mary's until June 21, 2000, when she was transferred to Cardinal Glennon Children's Hospital due to NEC. She got very sick. Dennis and I were so scared we would lose her to this. However, she bounced back in a few days.

Emily got to come home on August 10, 2000, weighing 5 lbs., 5 oz. Other than some difficulty feeding and some heartrate drops, she is doing really well. There are no abnormal cells in her blood, and the skin biopsy showed only 2 abnormal cells out of 50. All of the cells in the placenta were abnormal, the cord only had two vessels in it.

Emily is such a little miracle! She is starting to develop her own personality, and we know she is going to be a fighter! We are looking forward to seeing her grow and blossom...

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Mosaic Trisomy 16

Blake William was stillborn on January 19, 1999. He was our firstborn and a very celebrated little boy. We had been anticipating his arrival for months. We began reading stories to Blake in very early pregnancy. His nursery was decorated and we had all of the newest "baby equipment", even a wipe warmer so as not to chill his little bottom during diaper changes! I know that Blake felt love from all our family from the time he was first conceived. Brendan (my husband) and I talked frequently about Blake. Brendan looked forward to teaching Blake to throw a baseball, drive a car and even flirt with a girl! I looked forward to those middle of the night feedings, gently rocking in his nursery. I imagined that it would be our special mother son time. But God had different plans for our little man.

My pregnancy had been picture perfect. I felt great and often joked that I felt better pregnant than non pregnant. Blake brought me so much joy from the moment he was conceived. I felt his spirit inside of me and it made me glow. Those nine months were definitely the happiest months of my life. I have a wonderful obstetrician and received top notch prenatal care. We had discussed amniocentesis because of my age (36) but decided to do serial ultrasounds instead because of the risk of miscarriage with amnio. In retrospect I think we all wish I would have had an amnio, even though we wouldn't have done anything differently. All of Blake's organ's developed normally. His only anomalies were a club foot and simian creases in his palms. He was small for gestational age at 4.1#. The only thing that gave us any clue that something might be wrong on ultrasound was shortened femurs. This did not alarm us much because everything else was so normal, no heart defects or anything else that usually goes along with genetic abnormalities. At 37 weeks I had my last ultrasound. We watched my precious little boy suck his thumb, blink his eyes and move his arms and legs and even grimace. I treasure those moments that I watched him not knowing that was the last time I would see Blake alive. At 38 weeks we heard a strong heartbeat and my check was normal, I was starting to dilate and we looked forward to a baby the following week! Both of our families were so excited. In the next week our excitement turned to deep sadness. I went for my 39 week checkup and we could not find a heartbeat and did an ultrasound and saw little Blake's lifeless body. "Why?" My doctor waited with me as Brendan was on his way. I remember saying to Brendan, Blakie died. We held each other and sobbed. Babies are not supposed to die.

Our hearts broke. We called our parents, and found out that our 90 year old Grandma Mary had also died. We immediately knew that she had died to carry Blakie into heaven so he wouldn't have to go alone. What deep pain our families felt. My doctor gave me medication to induce labor and I was to go home and rest. Our families came to our house and grieved with us that evening. I remember walking into the house and hugging my parents and sobbing with them. Over the next several hours each of Brendan's brothers and sisters came in and we all sobbed. My brother who lives in Washington state called. He and his wife just had their first child 3 weeks prior, Blake and Mariah were supposed to grow up together. It was truly the love of God and our families that helped us survive during that time.

I woke up at 2 a.m. with pain. I now know that pain to be labor! Around 6:00 a.m., I took a shower and woke Brendan up and told him to call Dr. Batie and think about heading to the hospital. For some reason we took Brendan's truck to the hospital - I felt every bump! He timed my pains at 2 minutes and tried to convince me it was labor! When we opened the birthing center doors our doctor, my nurse and social worker were waiting for me. It was so nice to see them. I was already dilated to 5. Thank goodness. Labor would be quick. Brendan called our parents and told them to come to the hospital. God was with us. I arrived at the hospital at 7:30 and delivered Blake at 8:50. The hospital staff were wonderful. Our nurse made sure we were able to spend as much time with Blake as we needed. Our social worker was incredible. Our priest had a brief ceremony in the hospital. Both our families were there, we prayed together and sang. It was healing. Each of us held Blake. We took pictures and videotaped him. I'm so glad I was able to hold his little body in my arms. He was so perfect, his nose, his mouth, his little chubby cheeks and his Daddy's black hair.

The next few days were difficult. We had a memorial service for Blake and a funeral for Grandma Mary. We got special permission to bury Blake with Grandma Mary. Brendan and I were able to place Blake in her arms and close the casket. That felt better knowing he wasn't alone. We placed toys, a blanket, pictures and letters we wrote to Blake in the casket. We covered Blake with a fire department shirt of Brendan's. Again we cried surrounded by family and friends. We had a full Catholic funeral for Grandma Mary. The priest who married Brendan and I did the funeral. I sat there between my father and my husband and cried. Babies are not supposed to die, parents die first. The death of a child makes you feel very vulnerable. It messes up the entire order of things.

Weeks later we received the autopsy report. Trisomy 16. All organs normal, small for gestational age. We speculate that Blake had mosaic trisomy 16 since he survived to the 39th week. We were not able to test fetal cells, only placental cells, so we will never know for sure the exact details...details that have become very important to me. I know that Chromosome 16 babies are incredible human beings and are all little fighters with tremendous wills to live. We really aren't sure why Blake survived to the 39th week and not beyond. The cord attached abnormally to the placenta probably due to the large number of trisomic cells and we speculate that the cord developed a kink as Blake grew causing the blood supply to him to be cut off. I know that Blake felt only love in his 39 weeks of life, and that comforts me.

It has now been seven weeks since we lost our son. We are traveling down a road we never imagined we would travel. Some days are better than others but we have clung to each other and are moving forward. We met with a genetic counselor and she was very helpful. Our doctor and genetic counselor tell us that even with my age we have only a 1-2% chance of having another child with a genetic anomaly. I like to think of it as a 98-99% chance of having a healthy, normal child next time. Who can argue those odds??!! We are taking one day at a time but look forward to another pregnancy in the near future. We will always love Blake William. He brought us so much joy. Perhaps my husband summed it up best when he said: "Blake will always be our little boy and we will love him and cherish him forever, he is now our guardian angel". Loving Blake has changed us, we are different people now. We have learned to treasure every moment of life, to love with all of our hearts and to never ever take anything for granted.

Since Blake's death I have thought a lot about heaven and I believe that as God has a plan for earth he also has a plan for heaven and he needed Blake for a special job in heaven. And I know that when I get there Blake will be waiting for me and I will cuddle him, rock him and share that special mother and son time. I look forward to that day!

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Mosaic Trisomy 16

The story you are about to read is about my son, Bobby, who was born with a Trisomy 16 Mosaicism. I have been told by people who have been on this website that it is one of the sadder more depressing stories to read. In many ways that bothers me, as I am the one that lived through it, and, as sad and as horrible as the outcome of his story is, I can't stress enough that I wouldn't trade one second of the time I had with him and the absolute joy he brought me, for anything in the world. Yes, he/we went through a lot, as far as hospitalizations, surgeries, tests, doctor visits, etc., but, in every other way, he was one of the most loving, upbeat, intelligent, well rounded, friendliest, most outgoing, "normal", not to mention adorable, children, who, for whatever reason, managed to touch just about any person he came in contact with. He was a gift to me, and, during those 5 years, I was honored and blessed, and I truly feel like the luckiest person in the world to be able to say that he was my son and I was his mother, and he will be a big part of my heart forever.

This is the story of my son, Robert "Bobby", Jr., who, as you will read, was born with a Trisomy 16 mosaicism abnormality, as well as many other physical and medical problems, probably due to the chromosome abnormality, but possibly not. I (his mother) have written, to the best of my memory, the details of what it was like for my husband and I, as well as for Bobby, to go through all he/we did.

I am sorry if our story seems so long, when actually his life was cut short, as he, unfortunately, only lived for only 5 years, 3 months and 4 days. However, I feel that certain details are important to share, such as our feelings, Bobby's way of dealing with his situation, etc. Those five years have left an impression on us and those who knew him, more than anyone could ever imagine, and, although, the end result is not a good one, I hope that our story will help inspire any of you faced with a similar situation, and, hopefully, with stories like ours, there will be help, in the future, for those children born with such problems. I, also, hope that those of you who have a child with a Trisomy 16 chromosome abnormality will not feel alone, as we did in having to deal with Bobby's problems.

Also, although we don't have our son anymore, I am still very much interested in any new findings that may develop through The Disorders of Chromosome 16 Foundation, for this chromosome abnormality, as each case seems to be different, and I would be more than happy to speak with anyone who wishes to speak with me.

I, especially, want to stress the absolute joy Bobby brought us, and that we wouldn't trade one minute of our time with him (and all was not pleasant as you will read) for anything in the world. In the long run, he has given us his inner strength, to help us try to deal with losing him. He is and always will be our angel.

Our lives were changed forever (more than we ever thought possible) in January 1991, when we found out we were having a baby, who was due on Friday, September 13, 1991. As the pregnancy continued, I underwent the usual tests, and felt absolutely wonderful.

When it came time for all the tests, I wasn't the least bit worried because I felt that good. Even when my AFP came out too high or low (I don't remember which), I wasn't worried because two of my sister-in-laws both had similar situations, went on to have amnios, and both of their babies were normal and fine. However, because my doctors thought there was a chance that the baby had spina bifida and they were unable to really see my baby's spine because of it's position, I decided to go for the amnio, but I truly didn't feel there would be anything wrong. That was probably the last time I was so optimistic, as it seemed like everything seemed to snowball.

The amnio showed that there was a Trisomy 16 mosaicism and what that meant, NOBODY knew. My obstetrician said he called the "Genetics Capital" in New Mexico, and they had nothing documented anywhere on Trisomy 16 mosaicism, which led them to believe that such a baby was, most likely, incompatible with life, and there was a very good chance that I could miscarry, as it was felt that was why there are no documented cases of this, since they most likely miscarried.

After going for genetics counseling, we weren't given very much hope of anything. However, they did suggest going for a PUBS test, which is where they take the blood from the umbilical cord to see if the chromosome abnormality was actually in the baby's blood or possibly it was just in the placenta or amniotic fluid. I went for the consultation for the PUBS, and, ultimately decided against it, as it was another invasive procedure, like an amnio, and no matter what they found, it still wasn't telling us anything. However, when I went for the PUBS consultation, they did a more extensive sonogram, including a fetal echocardiogram, and found that the baby had a heart abnormality.

As devastating as it was, at the time, just a few months before this, our niece, at 13 months old, had open heart surgery for a ventriculoseptal defect (VSD, or hole in her heart), and did beautifully, and was "fixed" and expected to be perfectly fine, so, we felt that, if we had to deal with this again, we knew all the right doctors to go to and hopefully that would be the worst of it. Our niece did not have any chromosome abnormality, and it was felt (and still is) that both cases were just "fluky".

This is what I meant when I said things snowballed. One thing, which was thought to be the problem, such as spina bifida, would turn out OK, but they'd find the chromosome abnormality, and from there we found the heart problem.

It was, also, suggested that if we wanted to terminate the pregnancy, we didn't have much more time, but, again, they weren't giving us any reason to. So, we decided to just let it be, and if it was meant to happen (losing the baby), we would deal with it then, plus, I really felt great.

Anyhow, because of the heart problem, I was transferred to the care of "High-Risk" doctors, at another hospital, in my seventh month. At the end of my seventh month, my doctors felt that the baby wasn't growing enough, and I went for weekly biophysical profiles and non-stress tests twice a week, just to make sure that he was moving and growing, even though it was at a slow rate. (It was suggested that I gain extra weight in the hope that the baby would get some of it. Unfortunately, I gained ten pounds, and he gained one ounce.)

Finally, on September 9, 1991 (four days before my due date), our son, Robert, Jr., (Bobby) was born at 4 pounds, 10 ounces, 17 inches long, via normal spontaneous vaginal delivery. Though he was placed in a Neonatal Intensive Care Unit, because of his size, he required no life support or medical equipment of any kind. The goal was for him to gain weight to go home. On examination, it was found that he had a heart defect called a double outlet right ventricle (which is the defect that the doctors expected from the fetal echos). His blood test showed that the Trisomy 16 mosaicism was not present in his blood, however, on testing an eraser head size sample of skin from his back, it was found that it was present in 12-13 percent of his skin cells. What this meant was not necessarily known, at the time, and still isn't. He did have some physical abnormalities, some of which were more noticeable to doctors than to us or anyone else. His ears were low, he had hypoplastic (small) nipples, he had a hyper-reflexic right thumb, and most of his fingers seemed double jointed, his feet were felt to be turned out (possibly from his position in utero), along with having a flat nasal bridge, and he was felt to have dysmorphic features. He was also found to have hypospadias with chordee of his penis. (Ultimately, he really had a lot of my and my husband's features, as well, just very tiny.)

After two weeks of staying in the hospital to gain weight, he came home, and, other than being so tiny and not the greatest eater, he seemed like any other baby we knew.

At six weeks of age he was found to have bilateral inguinal hernias, for which he had his first surgery to repair them. It was supposed to be a one day surgery, but, because his chest was somewhat congested after surgery, they kept him overnight, and went home the next day.

He was gaining weight at a slow rate, and the cardiologist did a cardiac catheterization on him in January 1992. His heart defect was confirmed, but it was felt that he should be at least 11 pounds, before this was done.

In March 1992, he reached that weight, and the surgery was performed, with no complications, and within two weeks he came home.

In October 1992, he had his hypospadias surgery, and then again had a revision of it in October 1993, and all went well there, too.

We thought that the worst was over, as far as his heart was concerned, but in January 1993, after doing another cardiac catheterization, it was found that he had pulmonary hypertension, which was felt he could outgrow and, since the pulmonary pressures were not that high (I guess in the danger zone). We were told we should just do things normally, and, eventually, we may have to be referred to a physician at Babies and Childrens Hospital at Columbia Presbyterian Medical Center in Manhattan whose main research is pulmonary hypertension. We found out later on that children/families came from all over the world to see her for the possibility of treatment, as part of her research was attempting treatment with an experimental drug called Prostacyclin, which could only be administered through a Broviac intravenous pump in the chest, and she was the only or one of few doctors given a grant to use this medicine.

In January 1994 and May 1994, Bobby developed pneumonia which required him to be hospitalized. At this time, the cardiologist felt that it was time to see the doctor in Manhattan for the pulmonary hypertension, as his lungs seemed to be more effected.

In June 1994, after visiting her and having a cardiac catheterization in July, it was thought that Bobby possibly had pulmonary venous stenosis, or a blockage in his veins, and that this could be surgically repaired, and the surgeon who looked at the films agreed. Therefore, we felt we had no choice....if he could be fixed, we had to try. Unfortunately, this was not the case.

During the surgery, it was found that his left lung was very tiny and abnormally shaped, compared to the right, and not fully functioning, and that the veins that they thought were blocked were, instead, very tiny and thick, and, though, the surgeon put in a patch to open the vein(s) up as much as possible, the disease of the pulmonary hypertension was also into all the veins going into the lungs, which could not possibly be fixed. Therefore, he was diagnosed with primary pulmonary hypertension (PPH) and acquired progressive pulmonary vein stenosis. The PPH is very rare, with no known cure, and, though, there was the experimental drug used to treat some patients with this, Bobby was not felt to have such high pressures to warrant that, at the time, and was put on a bunch of other oral medications, Lasix, Digoxin, Aldactone, Coumadin, and, eventually, Procardia XL, as well as inhalers.

His stay in the hospital, after that surgery, was horrible. He was on a respirator for over 3 weeks, at one point being re-intubated because he couldn't breathe on his own because his diaphragm had been nicked during the surgery and that needed to hopefully heal itself. One night, he wasn't expected to live through the night, as he had a bad reaction to one of the medications, Nifedipine, and his body systems shut down, and his body filled up with fluid. Somehow, he fought that off, and got better. After coming off the respirator, he required oxygen for 24 hours, and, after a week, he came home, still requiring the 24-hour oxygen.

It was during this stay in the hospital, however, that the nurses in the Intensive Care Unit found an article on a baby who had been born with Trisomy 16 mosaicism in England, and, though the baby only lived for 11 weeks, due to multiple medical problems, we found that many of the phenotypes that this baby exhibited our son did as well, which were a lot of the characteristics I mentioned when he was born. This was the first time we had ever seen anything written on Trisomy 16, other than the case study that Bobby's geneticist wrote on him.

The stress of this surgery/hospitalization really took it's toll on Bobby, and seemed to be somewhat of a turning point for him. He lost every little bit of baby fat he had, and his energy level, though he never had an abundance of energy to begin with, seemed to go down considerably. His breathing seemed a little harder than it had been before the surgery, and we still, to this day, feel that the surgery might have done more harm than good, but, again, at the time, we felt we had no choice but to try.

After a cardiac catheterization in December 1994, they felt that his pressures were still high, but they would try giving him the oral medicine, which was Procardia XL, rather than the intravenous. During that Winter, he had the usual colds, which tended to go right to his chest, and took a good 2 to 2 1/2 weeks to get out of his system. His inhalers would be increased, during these times, and seemed to do the trick. Then, out of the blue, on 7/04/95 (almost 4 years old), we noticed he was having a hard time breathing, and, since we had a pulse oximeter at home, tested his saturations, and found them to be in the low 70's, which the day before had been in the mid to high 90's. Nevertheless, we drove him to Columbia Presbyterian in Manhattan to the Emergency Room, where he was admitted and was found, at that time to have RSV, and, though, there is no real cure, as it is a virus, there is an inhaled medicine that can be given through a tent, which can lessen it's effects somewhat. However, it had the reverse effect on him, even with maximum oxygen by mask, while in the tent. After a horrible night of watching him not being able to breathe and having his bed shake with every breath, he was finally taken to the Intensive Care Unit and intubated. Little did we know at the time he (we) would be spending about another month there, just like the previous Summer. His recovery from RSV was very long, and he could only be extubated if put on experimental Nitrous Oxide, as that seemed to help him. After being hooked up to, what looked like space gear on his head, he finally got weaned off the Nitrous Oxide, to regular oxygen, and got to go home. Again, he was on 24 hour oxygen, which he was on for a longer period of time (about six weeks), and he took a very long time to get back to his usual "self".

In the middle of all these hospitalizations, we had also been to the orthopedist a few times, as he was concerned that Bobby has a slight scoliosis of his spine, which can happen, apparently, in children who undergo open heart surgery.

We also went to a hand surgeon, as Bobby had virtually no strength in his right thumb, and it was very difficult for him to perform picking up even little objects between his index finger and thumb. He would use his index and middle finger as one would normally use a thumb and index finger, such as to put coins in a machine, a key in a door and to pick up small objects. It was found that he was missing either a muscle or tendon in the palm of his hand, just under the thumb, and the surgeon suggested changing his handedness, as surgery could be performed, but it still wouldn't give him 100 percent use of his thumb, and it would be essentially "frozen" in position. As he was 3 1/2 when he had this consultation, and was already writing his name (somewhat - even though he held the pencil "wrong"), we tried it for about 2 months, and he was extremely frustrated, and then, when he got sick with RSV in July 1995, we felt we didn't care if he could write with his toes. He continued getting Occupational Therapy for this, and, ultimately, did just fine and used pencils, eating utensils, etc., in whatever way was comfortable for him.

In October 1995, we found out we were unexpectedly expecting another child in June 1996, which we were both nervous and excited about. After having a CVS procedure, fetal echocardiogram and every other possible test, we were assured that we would have a healthy baby boy. Bobby was very excited about being a big brother. Six months before he was born, Bobby already named him "Danny".

During that Winter, 1995-1996, Bobby seemed to be doing really well, health-wise, and managed to make it through the Winter with no colds or upper respiratory infections.

In May 1996, he had another cardiac catheterization, which, however, proved not to be very good news. It seemed that the PPH, along with the acquired pulmonary vein stenosis, had spread more into his right lung (the good one), as well, with his left lung seeming to function less than it was. Though, his cardiologist was not happy with what she found, she felt he was "holding his own" and, with having such a good Winter, she wanted to just "play it by ear". She did want to take him off the Procardia XL because she felt his oxygen saturations were too low, possibly because of the medicine, and she felt that it was more important that the oxygen move through his body and have his pressures a little higher, than the reverse, and we would see how he does. After two days off the Procardia, his oxygen saturations were 100 percent, completely normal. Now, the question was how were they going to control the pressures. We were also told, at this time, that, down the road, he would need a double lung transplant, and, though he probably would have qualified for going on a donor list, her feeling was, as was our's, that there is no way he would survive this, due to his size. All in all, we were fairly optimistic, mostly because of his oxygen levels improving so much and the fact that he had made it through almost a year with not so much as a cold.

The following month, we had Danny, 7 pounds, 13 ounces, a perfectly healthy little boy. Bobby went through the usual jealousy over having a baby, but, for the most part, he couldn't do enough for him, so much so that he wanted to know when Danny would get oxygen too.

In October 1996, Bobby started developing, what seemed to be a post-nasal drip cough, on and off. After going to the pediatrician numerous times, they felt it was just allergies (my gut told me it didn't seem like allergies, as I have them), but his chest was always clear, so the fact that whatever he had was not in his lungs made allergies seem like more of a possibility.

Then, towards the end of November, around the 25th, he started vomiting, at least once every day.

One of those nights, while at a cousin's birthday party, he appeared to choke on a drink or potato chip, and threw up blood. At the time, he seemed a little delirious, but snapped out of it, and didn't throw up anymore blood. A friend of mine there said that her child had done the same thing recently, after cutting her mouth on a Dorito, but, due to Bobby's history, it seemed like it could be more. After calling the pediatrician, we were told to keep an eye on him, and that, since it cleared up, it could be nothing, but, if it should happen again, go to the Emergency Room. The rest of the night he seemed completely fine.

After 2+ weeks of vomiting, and losing four pounds (now down to 20 pounds), the reality of a stomach virus went out the window. Feeling totally desperate, I called his cardiologist who said to bring him in immediately. After doing a multitude of tests, I was called the next day, December 4, and told that he had RSV again, and that he needed to be admitted. As glad as I was that they finally found a problem, all I could think of was another month long stay on a respirator. However, the doctor assured me that he should hopefully recuperate in about one week with the tent treatment, as it seemed to be more nasal than respiratory. (Had I known that RSV could effect you nasally, and wish I did, I would have asked the pediatricians to test him. I do feel, however, that they should have known enough to test him without my asking.) The holidays were also coming, and I couldn't help but think his Christmas would be so horrible if spent in the hospital. All in all, though, his stay in the hospital went well. After one day, he stopped vomiting, but the doctor's main concern was getting him to gain weight, as he had absolutely no reserve to fight much of anything. They tried a feeding tube, which he couldn't tolerate, and, basically, we tried to feed him everything and anything that he would eat (which was pretty much what I had done with him on a daily basis, anyway). He gained back about two pounds, and seven days later, on Wednesday, December 11, we went home. His cardiologist said he could even go back to school the following Monday, as he seemed fine.

However, on Friday, December 13, 1996, after a normal day, we went shopping, bought our Christmas tree, which Bobby "helped" carry in the house, he said he was feeling well and wanted to go see the "big" Christmas tree, which there is one here, on Long Island, kind of like a mini Rockefeller Center, and the next day he wanted to see Santa Claus. That night, we all went to see the tree, and on the way home, as he was always asking to go to "some people's house" and he really hadn't seen anyone of his relatives (of which he has many), we stopped by my husband's brother's and wife's house, to visit them and their two children. After not getting in the door five minutes, Bobby, being held by his uncle, was taking a sip of soda, and immediately started coughing up blood. (Ironically, this was the same house where he vomited the blood at the birthday party.) However, this time, he could hardly breathe, and appeared to be gagging on the blood. Needless to say, we flew to the hospital in our car, which was about two miles away, and, while in my arms in the car, he died. They worked on him in the Emergency Room, but, after 45 minutes of never getting any response, it was official. He died of a pulmonary hemorrhage, a result of the primary pulmonary hypertension. Needless to say, as sick as he had been, this was totally unexpected, and we were and are devastated.

We had an autopsy done, in the hopes of helping some other children, and a fried of our, who is a medical examiner, interpreted the report for us, and, basically, said that he was a time bomb waiting to go off, and that he must have had little bleeds throughout his lungs, over a very long period of time, and probably the coughing and vomiting for such a long time didn't help. She also said that she had done autopsies on fetuses that miscarried, in her studies, and her feeling was that the Trisomy 16 abnormality was the reason for all of his problems, without question.

On a developmental level, all during this time, he had early intervention, starting at four months old, having teachers, physical therapists, speech therapists, occupational therapists coming to the house. For the most part, he met all his milestones on time. He rolled over at 4 months, sat and crawled a little later due to his heart surgery, walked at 13 months. Then, at 2 1/2 years old, he started going to an early childhood center, for a half day program, and then by 3 was in a full day program from 9 to 3, taking the bus, and loved every minute of it.

Mentally, he was wonderful, quick, had an unbelievable memory. He was somewhat speech delayed, around 2-3 years of age, but, for the most part, caught up, with just a small articulation problem, but nothing major that the average person would notice. He loved to perform and sing on stage, even at 3 and 4 years of age. He was very social, made friends very easily, and was pretty much known as the "Mayor" in school and just about anywhere he went regularly, the doctor's office, the hospital, especially in the Intensive Care Unit. He loved everyone, and had a way of getting under people's skin. Part of it could have been his size, combined with his personality. He appeared so much younger than his age, and then when he started talking, people would always ask, "How old IS he?"

His main problem was mostly physical, not just health-wise. He was very tiny for his age. At age five, he was never more than 25 pounds, which he had been for two years, give or take a pound, and he was only 36 1/2 inches tall. (He was about the size of a 2 to 3-year-old). In most cases, he was a full head shorter than his peers and about half their weight. This obviously posed a problem, especially when it came to playing. First, he didn't have the stamina of most kids, on a playground, and one of my biggest fears was him getting squashed between two kids or just simply bumped by another child.

In June 1996, he graduated from the BOCES Early Childhood Center, to be mainstreamed into a regular Kindergarten class. He was still to receive physical therapy, occupational therapy and speech therapy, and I requested an aide to assigned to him for monitoring him on the playground. The school decided it best to hire a full time aide to be with him both in the classroom and on the playground. This worked out great for the three months that he was there, as he never even knew, nor did any of the other kids know, that she was in the class for him, as she seemed more like a the teacher's assistant, but zero'd in on Bobby's needs, when necessary. I never wanted him to feel different, and, though, to some extent, he knew he had to take rest periods, unlike other kids, and go to the nurse for medicine, unlike other kids, he really took it all in with a grain of salt.

After just three weeks in school, we went to an event at night there, and just about every child, especially older (4th and 5th graders) would walk past him and say "Hi Bobby". Apparently, in such a short time, he made such an impression, even on the kids. This we especially know to be true now because of the many letters we received from students of all ages who were just so touched by him, which makes us feel that may be why his life was so short. I don't think if I live to be 90 I'll touch or have an effect on half as many people as he did in five years.

One of Bobby's favorite things to do, as there were many long periods of time that he couldn't do much as far as physically exerting himself, was to watch tapes, especially ones with songs, which he would sing and dance to. Since he was in a full day preschool BOCES, from 3 years of age, when he would get home from school, he would need that TV time to rest.

Other than all the above, we tried to treat him like as much of a "normal" child as possible. I took him to Florida, at 18 months old. Before his second heart surgery, we took him to Sesame Street Park, which he enjoyed. He LOVED amusement parks, especially the roller coaster. He loved taking the train to New York City, seeing shows or the circus. He even loved to just go shopping for a day, even if he didn't get anything. Unfortunately, our vacations and spending were limited, and due to his health, we didn't want to travel too far. Plus, at four years old, he had used up his lifetime maximum of insurance coverage. So, what we didn't get covered under Medicaid or what was left over from the insurance when he had it, we had to pay ourselves.

Luckily, in May 1997, our family and friends had a benefit for us to help us with our medical bills, and started the Robert Basile, Jr. Foundation. It was very successful, and we succeeded in paying off all the doctor/medical bills, etc.

My biggest wish is to keep my son's name alive and be able to help other children/families that are in a similar situation as we were, through this foundation. At the same time, I would be happy to help anyway I possibly can with The Disorders of Chromosome 16 Foundation, as I do feel that that was the primary reason for all of Bobby's problems.

Thank you for taking the time to read our story, and, again, God Bless all of you and especially your children.

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