Alex

Partial Trisomy 16

Alex was born on Feb. 12, 1992. We were told that he would not live past nine months, that he would have to be tube fed, and that he would not be aware of his surroundings. We were also told that he was blind.

Alex stayed in the hospital for almost 3 months. We took him to Atlanta for a cornea transplant which his doctors felt was a waste of time and money.

Alex is now 6 years old. He attends school Mon-Fri; he is in kindergarten. He has OT, PT, and speech therapy while at school, he is non-verbal but he lets us know what he wants and when he wants. He responds to his surroundings. He laughs, hugs, fusses, and cries to get his point across.

Alex has an older brother (17) and sister (13) who just adore him. They don't let him get away with too much. He still has to do his exercises with them.

We as his parents have learned to just offer Alex the best that we can, the best that is available to us, and to wait to see what God has in store for our son.

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Lauren

Partial Trisomy 16p+

Lauren is our first child. It was a surprise pregnancy, but we were quickly excited about having a child. I'm an aerobics instructor, and continued to teach until my seventh month. Everything was going great, and I felt great. All of my tests were normal. My only ultrasound was at 13 weeks to date the pregnancy. No other ultrasounds were performed.

When Lauren was born at 38 wks, she weighed 7lbs.12oz. She was beautiful, but didn't cry. We had the traditional together time at first, pictures and all, but a few hours after her birth she started turning blue. That's when things completely changed. She was transferred to another hospital and had coarctation of the aorta. Her Aorta was so underdeveloped that the left side of the heart was too small. Luckily it was a successful surgery. Since then she's had a VSD closure along with some valvioplasty this past June.

Lauren just had her 2nd birthday and she weighs 18lbs2oz. She is just learning to walk. She is very witty and has some good verbal skills. We just found out about her chromosome abnormality (a partial duplication of the short arm of 16). It is more confusing than before we found out because no one seems to have any answers. The geneticist said that she found no other cases like Lauren. Now we're just beginning our search for help and hope.

She is so wonderful, and I've already been encouraged by others stories. I want others to know we are very impressed with how much Lauren does despite her petite size. She really makes us appreciate being parents.

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Justin

Partial Trisomy 16

Justin was born on November 2, 1993. Doctors have traced his chromosome abnormality to Justin's biological father's father. Justin's grandmother, Debbie, had a son who died in 1975 of heart failure. He also had partial trisomy 16. Justin's father is a carrier of trisomy 16. At four months we found out through amniocentesis that Justin would have partial trisomy 16. I had a normal pregnancy and delivery with no problems.

Justin was born with a cleft palate, heart murmur, severe developmental delays, and a bilateral hernia. In the past and present we have spent a great deal of time in and out of doctor's offices and hospitals (for surgeries, bronchitis, and severe ear infections). As the present time Justin still has his heart murmur and will need a procedure to close the hole.

Last September Justin had a stricture in his esophagus. He had two surgeries and they dilated the esophagus. Sadly, the stricture has retracted. We are now in the process of dilating the esophagus again. At the same time we hope to get Justin a G-tube. Justin weighs 26 pounds. We hope this will help him gain weight. Justin also has a severe hearing loss which requires him to wear hearing aids, which he doesn't like wearing. He is still non-verbal and speaks in babble. Justin participates in a special day class, and enjoys going to school and riding the big yellow bus home. I would be interested in talking with other parents.

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Cambree

Partial Trisomy 16p+12-13.3

Cambree was born on March 25, 1999 in a small hospital with a 2-vessel umbilical cord and aspiration pneumonia. When she was 2 days old, she stopped breathing and was then transported to a larger hospital. Between the two hospitals, they attempted five times to put her on a ventilator without success. We then noticed that she had a strider when inhaling. (We are not sure if she was born with it, or if it happened as a result of trying to get her on the ventilator.) When in the RNICU, she was looked at by a geneticist who then came to the conclusion that her features came from either mom or dad. She didn't have too many "different" features other than the bridge of her nose was flat. Her eyes are also small, and as a baby it seemed like she was never awake. Whenever we take her places (i.e. the mall), people often comment that it looks like she is falling asleep. Also in the RNICU, we met up with an excellent doctor (a pulmonologist) secondary to the strider. At a visit to the pulmonologist (who is very good at checking everything) at five months of age, she commented that it looked like Cambree had low muscle tone in her legs. Her hips, knees and ankles are very hyper-mobile. She suggested we go back to the genetics clinic. We couldn't get in until Cambree was 8 months old. At 9 months, we found out she had extra material on her 16th chromosome, but we were still unsure of what it was. At 10 months, we finally got a diagnosis.

Cambree is developmentally delayed in all areas, although she is making very good progress. She rolled over on time but everything else was delayed. We started therapy services when she was twelve months old. At this time she was not completely sitting up on her own, not talking, and was having difficulty with fine motor skills. She also had some tactile defensiveness. She is now 20 months old. She is walking around furniture and has taken 1-2 steps on her own. She is able to self-feed without utensils but does not understand the concept of putting objects "in" or "on" something. She is babbling mama and baba and is able to point out several body parts as well as understand simple commands such as "no no" or "go down" (the steps). The tactile defensiveness is still present but has significantly decreased through therapy by using a technique called brushing. We are very encouraged by her progress.

If there is anyone out there who has information to share with us, we'd appreciate it. Our genetics clinic has not provided us with any information and we haven't come across a lot on the Internet either. So far everything has been a waiting game.

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Lillie

Partial Trisomy 16p+

My husband & I miscarried at eight weeks along in Jan,1995. We tried to conceive for the next year with no luck.We then looked into some infertility testing.I was put on clomid to help with a ovulating disturbance. Quickly another year passed.It was getting to be too much emotionally,we were ready to give it completely to the lord.Sept. 2000 we were blessed again! We found out that we were nine weeks along! God is good!

My pregnancy was pretty normal until the last trimester.The doctor became concerned with the amount of amnio fluid & high blood pressure.A stress test was performed due to our babies heart beat.Sonagram revealed a our Lil Angel Lillie to be complete breech. Due to all of this Lillie was a scheduled c-section.Born March 22, 2001 our 4lb 2oz lil angel was here! Praise god!

Lillie elizabeth was taken immediatly to the nicu unit due to respitory difficulties.This is where one thing after another was being discovered.Heart Murmur, cleftpalate, 3vsd, asd, pfo, microcephaly, meconium plugs in the large intestine. Enema's were given every six hours to help move the meconium plugs through the intestines.On lillies fifth day of life her bowel perforated.She was flown by life flight to peoria for emergency surgery.We were told we could'nt accompany her on her flight but were given directions for our two hour drive. Before departing, Lillie went into shock. The nurse told us "your baby is very sick and may not make it".

All we could do was to put our trust in the lord.

After arriving in peoria Lillies life flight nurse came out to let us know that Lillie stopped breathing right before they got her onto the helicopter. That explained why it seemed so long to watch the helicopter depart.She said that we would be meeting with a surgeon (Dr.Richard Pearl ) to discuss the surgery that he would perform.It was truly a blessing to be able to sit down with Dr.Pearl.He left us feeling very confident that everything would be okay. Recovery was very hard for Lillie. Respitory,feedings and holding her own temp were also issues.So many test's,so many specialist's, countless genetic testing revealed trisomy16p.

We were told there were only seventeen cases ever known, but none to be found. So as far as to what her prognosis would be it was unknown.

We were told she could have mild to severe retardation, and the cleft palate was associated.What made lillies chromosome disorder so unique was not only did she have an extra p-arm on the sixteenth chromosome, but was deleted for a piece of the p-arm on the eighth chromosome.So our journey begins.

To date(nov 22,2002) Lillie has had five surgeries.3-27-01 bowel repair,colostomy,appendectomy,biopsy of rectum.4-25-01 nissenfundoplication,gastostomy tube.7-25-01 colostomy take down.9-5-01 pyloroplasty 2-11-02 tympanostomy/tubes,z- plasty(floor of mouth) cleft palate repair. We recently have been evaluat! ed with an eye surgeon which found lillie to be farsighted bilaterally.She will be fitted for glasses in the spring.

The doctor was also concerned with the optic nerve, both appeared to be significantly abnormal.Due to this we have been seen by a plastic surgeon & neurologist. We are still awaiting results.Lillie has delays in all areas.Her feedings are mostly through g-tube, although she is making some progress orally.She is followed closely by Dr.Pyevich for dysplasia of hips. As well as her pediatrician Dr Khoury which we would be lost without.

Developmentally overall Lillie is around a six month stage.She doesn't sit,but enjoys being on the carpet with her toys.Lillie is a very happy baby. Loves to giggle with daddy,imitate kisses with mommy and stare into her brothers big beautiful brown eyes.We are so blessed to have her.She has taught not only us but all who have touched her life so much! We pray daily to keep her and ask that you say a prayer for her too. She is truly an angel on earth.

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Nicole

Duplication of 16p+

Our daugher Nicole was born 9/15/98 2 weeks early weighing 7 1/2 pounds.(quite larger for a child with this disorder). Having an older child we  had a feeling something was different but it was not easily noticeable . Nicole was not hitting the milestones as our first child. She was not smiling, was a late crawler and walker and generally physically behind. At 8 months we had Nicoles eyes checked and realized she was extremely farsighted and needed glasses. From the moment she wore glasses we saw a change. Nicole began to smile immediately and engage us although physically she was still behind. We thought that was the cause of her problems. She couldn't see, so all her milestones lagged behind.

At 2 years old, we saw one the the preeminent geneticist in Los Angeles. He said there was no need to test Nicole beacuse he saw no indication of a genetic problem. She was off the charts in height, weight, head size, and her cognitive ability was right on track. He suggested physical theraphy to stregthen her muscles.

It was not until she was 2 .5 years old that she was first diagnosed as having mild cerebral palsy. Nicole was not able to run like other children nor move in a fluid manner. During a visit to one of Nicole's cerebral palsy doctor s, it was suggested we do a complete genetic test. It was after these tests that we found out Nicole had Partial Trisomy 16P+ (age 4). What was very interesting  (according the the geneticists) was that Nicole was in the top percentiles in height, weight, head size etc which they found to be unusual. Nicole has some features consistent with this dissorder (flat bridge between eyes, cupped ears, slightly webbed feet and a double collecting kidney system). At this tme, we were told that Nicole was only one of a handful of children in the country that had this disorder.

Now for the good news...obviously raising a child with a disorder is more difficult than raising a child without. We feel very blessed because Nicole does not seem to be affected severly from this disorder. She has many friends, is starting AYSO soccer in the fall, and is starting a private mainstream school in Los Angeles. Her main obstacle is her muscle weakness. She is not able to keep up with the other children on land. But when it comes to swimming she is on an even playing field with all her peers. Her expressive language is sometimes slower than most children, but her vocabuluary will amaze anyone.

We are excited to be a part of the DOC16 family and look forward to learning more about these dissorders and figuring out a way our children can all live happy and prodcutive lives.

Johnny

Partial Trisomy 16q+

Our sweet little Johnny will celebrate his 1st birthday (3 days from now) on Jan. 29,1999. We're all looking forward to this big day. It has been a very trying and difficult first year for Johnny and for all of us. We first found out about his chromosome disorder when John was 3 months old. He never opened his eyes very wide and when we took him to see an opthamologist, he suggested at sometime we have his chromosomes tested because John's "optic nerve was gray in color and in very rare cases, this could be due to a chromosome abnormality." So, of course, we wanted to find this out right away. I always had a feeling, (like many parents do) that there was something not right with our little precious angel. He was not breathing on his own at birth and was small (only 5lbs.8oz.). He had difficulty feeding and gaining weight the first few months of life.

To make a long story short, Johnny has had some very traumatic times in his first year of life. He had a severe seizure at 3 1/2 months of age where he stopped breathing, but now takes medication to control them and, thank the Lord, has been seizure-free for eight months! In Oct.'98' Johnny became extremely sick very fast and ended up having a kidney infection that went into his bloodstream and sent his little body into shock. He was on life support for 2 weeks, but again, God answered our many prayers, and Johnny pulled through and was taken off life support successfully! He has hydronephrosis(reflux of his kidneys) and is on antibiotics daily to prevent urinary tract infections. He has had difficulty gaining weight since his hospitalization and may be getting a feeding tube (G-tube) with in the next month if he does not start to gain weight.

We never thought our child would have a chromosome abnormality because, like many other parents, all of my prenatal tests came back normal. So, at first it was difficult because the geneticists we saw told us there was no other person in the medical literature with the exact same genetic make-up as John's. And, because of this, they did not know how Johnny would do. But, we quickly learned that our sweet little Johnny would continue to bring us the greatest joy and love anyone could give. He constantly reminds us of how precious life is and how we can't taken anything for granted because life here on earth is so fragile and so short. Our lives have drastically changed and each day is a mystery as to what it might bring, but we've learned to live each day to the fullest and hug and hold our children (Johnny has an 8 yr.old brother Zachary) as often as we can because someday we may not have the chance to do that anymore. Johnny truly is our little angel and we are very excited to learn as much as we can and meet others who have children with chromosome 16 abnormalities so we can do as much as we can to help Johnny be as healthy as he can. We already have met 2 other families that have children with a similar genetic make-up as Johnny's. And would love to get involved in this support group too.

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Tommy

Partial Trisomy 16p+

Tommy is our lifeline. Our big problem now is the seizures. They are so bad but he is in school (Tommy is 9 years old) and very happy. If he meets you once, he knows you for life! Tommy is so loving that it is clear to me that he is an angel.

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Jessica

Partial Trisomy 16p+

For about 15 months I have been trying to find out why she has her delay. Then after her genetic testing, I found out. After meeting with my doctor I still don't know anything about the disorder. In one way I'm happy to know but I still don't really know.

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Julia

Partial Trisomy 16q+ (q13 to q24)

After struggling with infertility for many years, our dream came true on November 4, 1997 with the birth of our twin daughter and son, Julia and Samuel. Three days later we were informed by the doctors in the hospital that they wanted to run a chromosome test on Julie to rule out a chromosome disorder due to some dysmorphic facial features. After what seemed like the longest 10 days of our lives, the hospital called and asked us to come and meet with them to discuss the test results. When we walked into the room and say the hospital social worker and a team of geneticists, we knew the news was not going to be good. Julie had an extra piece of chromosome 16q attached to the bottom of one of her chromosome 16. She therefore had a partial duplication of 16q from band q13 to q24 or three copies of this piece of chromosome 16, instead of two. To date, there are no reported patients with the exact some duplication as Julie has in the medical literature, which is why we are seeking information from any families with children with partial duplications of 16q.

Julie is now 14 months old and recently started crawling after four months of physical therapy due to low muscle tone in her upper trunk. In addition to PT, she also receives occupational therapy twice a week and special instruction once a week. She's extremely farsighted and occasionally tolerates glasses for a few minutes at a time. We're still in the dark about her cognitive skills, but we're encouraged by her ability to imitate some behaviors like clapping, peek-a-boo, and blowing raspberries. Most importantly, she's a happy baby and has a sweet disposition. Julie loves to hug all of her toys and people that she feels comfortable with (like her parents and brother). We feel fortunate to have her twin brother, Sam, as a developmental role model for her. Julie's diagnosis has been a bittersweet triumph over infertility, but she has brought a lot of love into our family and has only made us closer.

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Shelby

Partial Trisomy 16q+

Finally I locate a place where we can relate. I can now tell our story. It was my first pregnancy at 29 years of age. It was uneventful and didn't even include morning sickness. At my second ultrasound we learned that we were having a girl. The doctor was a little concerned about the circumference of her head, but not overly so.

At 34 weeks gestation my water broke with no spontaneous labor. I went to the hospital where they planned to keep me until my due date, which was October 10, 1991. Each day they would take a sample of amniotic fluid which continued to drain to check her L/S ratios to determine whether her lungs were mature enough to function on her own. On the evening of September 11, 1991 her heartbeat dropped with a slow recovery. The following evening they decided to induce labor. At 4:10 am Friday, September 13, 1991, Shelby Megan arrived. Shelby's apgar scores were low and they had to intubate her to assist with oxygen. She weighed in at 4lbs. 11oz. They called in a genetic specialist and placed me in a recovery room with several other new moms, who all had their babies at their side, except me. That afternoon with the help of my husband we made our way to the NICU. A horrible place to have to go. The sounds of all the beeping and alarming non-stop were maddening. I can still recall the very event. That evening, the genetic specialist poked her head into my little corner that was curtained off from my roommates and their babies. She proceeded to ask my husband and I if it was possible that we were related. We were stunned. My husband is hispanic and I am scandinavian. The reasons that the genetic specialist were called in were because dysmorphic features were noted with some hypoplasia of the mandible, collapse of the nasal alar cartilages and a low positioned diaphragm on chest x-ray.

It wasn't long before Shelby was diagnosed with Trisomy 16. The specific statement was there was extra chromatin found on the long arm of Chromosome 16. They told me that there were few to no other cases in medical history of this abnormality. I am now discovering that this is incorrect. Shortly thereafter they urged my husband and I to have blood karotypes done on each of us to determine if one of us was the carrier. We did not feel that this was necessary to do. We did not plan to have any additional children and if we decided otherwise we would have the blood work-ups done to make certain that we weren't carriers. Having the work done otherwise was unnecessary and we didn't feel that we wanted to provide one side of the family or the other a place to point their fingers. It happens!

We left the hospital without Shelby. I visited daily and would stay throughout the day taking breaks outdoors only to escape the constant beeps and alarms that never stopped. We attempted to get Shelby to breast-feed but to no avail. Every time we did feed her she would get congested and begin wheezing. At which time her sat levels would drop. Triggering the alarm to notify you when the saturation level fell below a preset level. While in the hospital Shelby began this twitching that they later described as clonic jerks which were not associated with electrical abnormalities on EEG. What we saw was just twitching. You know how a dog will start to twitch their feet while asleep, possibly running in a dream. The twitching never stressed her out and it happened more often which she was asleep and it never woke her. They felt it would be best to do a laryngoscopy, endoscopy and bronchoscopy to determine that all was well with her passage ways. The examination showed normal ear morphology, normal trachea and bronchi as well as bilateral vocal chords.

They called in a neurologist. Shelby also had a Grade I intraventricular hemorrage. They did a sleep study that was inconclusive and decided to try to eliminate this irregular twitching by prescribing phenobarbital. Once she was set up on 2 doses of phenobarbital a day they decided to let me take her home. Shelby went home on her 18th day of life closely monitored by an apnea monitor. It wasn't until 4 months of age that we convinced the doctors that the phenobarbital wasn't stopping the twitching and we didn't feel that it was needed. We then had to wean her off of the drug due to addictive complications that the drug has.

Once home, with the exception of endless doctor visits, (at least that is what it felt like,) we fell into an easy pattern. I was no longer working and had the time to go through the long and treacherous steps that we have been through. When Shelby was born she never really opened her eyes more than just a slit. During her stay in the NICU I would ask many a nurse when she would open her eyes. No one really had a viable response for me. I began lifting her eyelids with my finger to see whether there was any activity behind her lids. There always was. Some slight nystagmus. After some visits with the optholmologist it was learned that the blood vessels in the retina of her left eye were growing improperly. A specialist in this field performed a total of 3 sessions under anesthesia to enable him to perform laser surgery on the retina of her left eye twice followed by one follow up to verify that the problem was taken care of. He claimed that she would have walking vision in her left eye and reading vision in her right.

The neurologist discovered what he thought to be a heart murmur and referred us to a cardiologist. We were also scheduled for an MRI to evaluate her head and the possible causes of her twitching/seizure activity. The MRI displayed no apparent growths or operable conditions. What was found was simply volume loss, more on the left side than the right.

Eventually Shelby began to use her thumb to lift her own eyelids as I did daily to make sure something was taking place under there. At one year of age she was diagnosed with ptosis and we were sent to see a specialist. The specialist had never heard of an infant lifting his or her own eyelids to see. So Shelby proceeded to demonstrate this during our initial consultation and he actually got a photograph.

Shelby was then diagnosed with a PDA, an ASD and bilateral aortic stenosis. No surgery has been performed yet but I am told at some point in her life she will more than likely require it.

Shelby began early intervention with the infant development program at 3 years of age. Receiving OT, PT and visually impaired attention. She was diagnosed with mild to moderate hearing loss in her left ear and moderate hearing loss in her right. She was fitted for hearing aids but once in it proved to be too much amplification and she wouldn't keep them in no matter how hard I tried.

Her vision is not great and until they can evaluate it under anesthesia again we aren't sure about its current levels. Shelby's development is severely delayed. She doesn't walk or talk. She has a weak desire to eat solid foods. It changes daily. Her primary source of nutrition is a liquid diet I'm sure many of you are familiar with called Pediasure and Ensure. Which as many already know, insurance does not cover the cost of because everyone must eat to survive and just because she requires something special does not mean they have to cover the cost.

In October of 1994 therapists had concerns with her hips. X-rays displayed dislocated hips. In December 1994 she underwent double hip surgery followed by 6 weeks in a body cast. Not a great experience. To date she still is not walking. The OT and PT that she receives through city schools is not enough. Now therapists are concerned about her ankle and want her to return to the orthopedic specialist to be fitted for braces. The double hip surgery and body cast did not change her ability to crawl and walk, what makes them think this will change if we proceed as requested?

She requires another ptosis correction surgery just as soon as I make arrangements to do so to install the permanent slings. During the last few years we have experienced many hospital stays due to dehydration. Due to her eating habits she has been unable to build up enough fat reserves to see her through the cold seasons. When she gets sick she won't take her bottle and it only takes about 24 hours before she begins to dehydrate. Most of the time she is admitted to the hospital, they hook her up to an IV to restore her fluids and then when she is eating on her own they discharge her provided I feel comfortable with it. In December 1995 she had a g-tube installed laproscopically. 4 months later we had them remove it because of lack of use and the fear of it being pulled out.

In December of 1998 after visiting the hospital 4 times back to back every 2 months we were approached about another g-tube. We allowed it provided that they could install the g-button and if it could be done without surgery. They were able to install a g-button endoscopically. No fundalplication was in place during either installation of feeding tubes.

We managed to stay away from the hospital for 8 months until she began vomiting. It got to the point where she was vomiting what they refer to at the hospital as "coffee grounds". Most likely due to the g-button which essentially is like having an ulcer. It was then learned that she had a urinary tract infection.

We just went through testing to rule out any kidney/bladder problems. The tests were non-conclusive.

The many medical procedures that the doctors want Shelby to go through with, I have a hard time allowing for. In the beginning I didn't know any better and many of the procedures they wanted her to go through happened with no obvious improvements. This makes me less likely to jump right out and do them.

We never hooked up with geneticists to push for more. We never requested a prognosis or expectations for life. We simply take one day at a time. We see that Shelby's needs are met and that she is comfortable and content. No matter how much is done to subject Shelby to a guinea pigs way of life in the medical field, the chromosome abnormality can not be corrected at all.

It saddens me to know how many are afflicted with this abnormality knowing that when Shelby was born they claimed there were few to no cases in medical history of Shelby's. Shelby is still totally dependent on others for everything. During our last hospital stay in July, clinical social workers were adamant that I see them before Shelby is discharged. During the previous stay when they set Shelby up with the g-button they wanted to meet with me because I was against another g-tube. I agreed to one before they could meet with me. When I met with them this last time they asked me if I was familiar with Childrens Convalescent Hospital. I told them that I was. They asked me if I have considered it. I said absolutely not. They asked me if it ever too much. I responded with only during these times. They then asked me if I would know when it was too much. I claimed that I hoped so and then I said as long as Shelby shows signs of knowing who I am and who her father and other significant people in her life I could never consider it. End of discussion.

Since I have been at it for almost 8 years now I have seen a great deal. If anyone would like to talk about it I would be more than happy to share our experiences and what knowledge we have. I will not apologize for the length of this story because I have always wanted to hear all the details of those who have been there too.

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Richard

Partial Trisomy 16q

When Richard was first born he had some trouble breathing. He was a planned home birth, so we took him to the local hospital were they kept him for 3 days, then they transferred to the local children's hospital because he was not gaining weight. While he was at the local children's hospital the doctors kept on asking me how much I had to drink during my pregnancy and what drugs I had taken (the answer to which was none). I found out later that this was because he had features found in Fetal Alcohol Syndrome or Fetal Hydantoinaid syndrome. Richard was born with rocker bottom feet, pseudo club feet, hypospadius, knee and elbow contractures, wide set eyes, and they thought he might have had coarctation of the aorta. When he was 6 month old the geneticist told us he had partial trisomy 18 and would not live more than 2 months. Then he asked us if we wanted our son to die in the hospital or die at home. We chose to take him home with us because we knew we could give him the love he needed and we would allow him to live as long as he decided to stay with us. He had several pneumonias in his first few years and one episode of meningitis, when he was 2 and 1/2 years old and had a temperature of over 107. He has been able to stay out of the hospitals for the past 2 years, except we just had ear tubes put in to see if it might help his hearing. Richard still has a very hard time gaining weight and has scolosis and kyphosis, lordosis of the spinal cord, a dislocated left hip, he has lost 3 teeth and the dentist has pulled 3 teeth and he has 2 more on the bottom coming in. We have a back brace to help with his scolosis and he has a wheelchair to help with mobility. He eats pureed foods, although he has started eating small bites of soft food just recently.

We went to the SOFT conference last year and while talking to Dr. Carey he stated that Richard did not seem to be a partial 18, but more like a partial 16. After the SOFT conference our doctor was slow in following the recommendations we received, so we called the Bureau of Special Health Care Needs and asked them to set us up with a geneticist so we could get some of the recommendations that were given to us. When we saw Dr. Braddock, he also said the same things that Dr. Carey did and did a new Karyotype on Richard and found out he has a partial trisomy 16 along with a deletion of the short arm of the 18th chromosome. Dr. Braddock stated that Richard was the only child he was aware of with his particular chromosome abnormality and could not tell how long he would live.

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Katrin

Partial Trisomy 16p+

More information to follow.

Meghanne

Partial Trisomy 16q+

Meghanne was born on September 29, 2001. She is a lovable sweet baby and loves attention. My pregnancy was normal other than having constant nausea. All tests came back negative. I had my first ultrasound at 14 weeks gestation and everything was normal for a 12 weeks gestation. So they decided to move my due date from Sept. 28 to Oct. 13. My second ultrasound was at 24 weeks and again the baby was by average only big enough to be 22 weeks. They decided to keep the due date this time. The first ultrasound worried me a little but this time I was really worried that something was wrong, even though they said not to worry.

On Sept. 28 I was having mild cramping all day long, but I didn't think anything of it because I have been hav1ng mild cramping for the last 2 weeks. But later that night I knew that I was in labor, so I called my husband at work and we got to the hospital just in time. I was fully dilated and one hour later Meghanne was born at 7lbs 2oz and 19 3/4 inches long. It was a pleasant short labor, two pushes and she was out. I was so happy to finally hold the baby that was growing inside me.

When they put her on my stomach I noticed there was something wrong, she didn't have a cry. It was a very weak hoarse cry and it scared me. They took her over to the warming bed (there was no NICU) and immediately began working on her. They noticed she was having difficulty breathing so they gave her oxygen and put an IV through her umbilical cord. It was then that they noticed there were only two vessels.

Meghanne was noted the have micrognathia (small chin) which caused her tongue to fall to the back of her mouth, and this is why she was having difficulty breathing. But that still didn't explain the weak cry.

Meghanne was then sent to a bigger hospital with an NICU. I was released right away so that I could go and see Meghanne (there were no available beds in the other hospital). They told me there were no complications so I could leave. I was happy to do so.

When I got to the NICU she was hooked up to so many tubes and wires and it was scary. All the beeps made me nervous. But I knew I was lucky that she was still alive.

Meghanne had a scope put down her throat to see if there was nay blockage. It was all clear and the Dr. gave the go ahead to start feeding. At that time she was given only fluids. I tried breast-feeding but it seemed too difficult for her. She had difficulty feeding from a bottle as well; she had a poor latch due to a combination of a high palate and micrognathia.

Here is a list of noted problems at birth: Meghanne had a small VSD which is now closed on its own. Her right ear was slightly abnormal( cupped), She had a small head, bilateral fifth
finger which was slightly turned in and slightly clasped thumbs. Her toes had underdeveloped nails, especially the big toes, she had irregular positioning of the middle toes. She has a short neck, long tapering fingers, a dimple in the crease of the buttocks between the vagina and the rectum. She also has a broad nasal passage and tip, with a narrow nasal passage and small nostrils. She also has a thin upper lip and a down turned mouth.

When we met the neonatal doctor her told us he thinks Meghanne may have Pierre Robin Sequence, but that test came back negative. He then wanted us to get blood work done and then referred us to a geneticist. The geneticist told us that Meghanne had an extra piece of 16p attached to the end of 16q. She said there were no other cases like Meghanne's and that she didn't know what Meghanne would be like in the future. She did tell us that there is a chance that she will be developmentally slow, and that was all she could tell us.

Meghanne has also failed her first two hearing tests. The third hearing test could not be completed because she was too fussy and the results were not clear. Her fourth hearing test was good. She has a little fluid building up in the left ear and the right ear is clear.
Today Meghanne is doing well. She is currently seeing a PT, CT, and is on a waiting list to see an OT. She just recently started to reach for and grasp objects. We are currently working on rolling over and sitting up. She has a lot of muscle tension in he arms and keeps them bent most of the time. She also likes to arch her back a lot when in a sitting position. At five months she began to smile, that was a terrific time.

I look forward to hearing from other parents.

UPDATE JANUARY 2004 Much has happened since October 2002. We have been through a lot of ups and downs with Meghanne. In November of 2002, Meghanne began having what is described as "grand mal" seizures. It was very scary. John had just gotten up to get ready for work when he noticed that Meghanne was not quite right, the day before she had, had between 60 and 70 absence seizures. We called the ambulance and they came right away and took her to the emergency room at Hotel Dieu. They took her immediately and started to work on her. She had several seizures in the ambulance on the way up there . They were able to stop the seizures and gave her something to sedate her. She was finally able to rest. We don't know how long throughout the night she had been seizing. When Dr. Morgan arrived she admitted her to the paediatrics unit for overnight observation. She was released the next day with a prescription for Valproic Acid, as well as for an inhaler and aero-chamber. She was discovered to have asthma as well. In January of 2003 we went to see Dr. Siu for a genetics follow-up appt. She said that Meghanne seems to be doing fairly well and is not too concerned over all about her development. We already know that she is delayed and will continue to be delayed but she is still improving in her development. She took her measurements and Meghanne falls in the 25th percentile for her weight and height. Her fingers fit into the 3rd percentile, her head falls below the 2nd percentile and her ears are in the 75th percentile. We need to be sure that her head circumference pattern does no go down or she could have more complications. In April 2003 Meghanne saw Dr. Cooper as her follow up appt. was scheduled. She did indeed need glasses. She is near-sighted in both eyes, her right eye worse than the left. She doe not tolerate them too well. She pulls them off a lot unless her hands are occupied and her attention is deferred from her face. I am not sure if they have made any improvement yet in her sight. When we are outdoors I notice more change than when we are indoors. She looks around more often and is more aware of her surroundings. I will keep trying to get her used to her glasses. She seems to think that since she does not like to wear glasses that no one likes to wear them and tries to pull off everyone glasses. She will now follow-up with Dr. Hawkswood in February. Again in April 2003 Meghanne saw an ENT specialist, Dr. Abdallah, about her hearing. She went in for an ABR in May and the results came back as mild to moderate hearing loss in both ears. Later that month we went to see an audiologist to confirm the results of the ABR and to see about hearing aids for Meghanne. It was not until September that Meghanne finally got her hearing aids after a struggle and a few mix ups with their office. We had to wait for approval from the Government and they for some reason had forgotten to apply and then felt that I was supposed to apply. It really was a big mix up. The important thing is that she has them now even though I feel she does not need them. I think that because it has taken so long for her to get them (4 months) I feel her hearing has gotten better. I suppose she would need a whole new set of testing for this to become a reality. Meghanne does not tolerate wearing them well at all. She has a habit of playing with her ears on an almost constant basis, the moment she feels something different she pulls them out. She cannot lay with them in her ear because they whistle and I cannot leave her alone for any length of time because she will pull them out and chew on them. I feel they are more trouble then they are worth. I have a hard time motivating myself to put them on her because I feel so aggravated fighting with her to keep them in. She regularly sees an audiologist to check up on how things are doing. Return to top of page In July of 2003 Meghanne was once again having violent seizures. We had decided not to chance anything and brought Meghanne into the hospital ourselves. Lucky for us they took her in right away (typically we would have to wait our turn). It took them several shots of meds. to finally get the seizures to stop, she had been seizing for almost an hour total. Once they stopped she was able to rest. She had an IV in each arm, one for fluids and one for meds. She was in the emergency for a couple hours and then was sent to the pediatrics unit again. Meghanne was very irritable the first night she was there. It took the nurses several hours to get her to calm down and go to sleep. When she saw us come in the next morning she was very happy to see us but she was still not quite herself. I came every day to be with her to help out the nurses as much a possible, my Dad and Mom came in a few times to see her as well as Margo her in-home care worker . Everyone could tell that she was just in a miserable mood. Each day she was in a better mood but would still have her moments of being fussy and nothing seemed to calm her down. I stayed all day until she went to sleep at night. I hated leaving her. Alyssa could not visit because of the SARS issue that was going on. We found out the combination of medication that Meghanne was on was upsetting her stomach. They were colliding with one another so they decided to wean her off the Valproic Acid and put her on the Dilantin. Meghanne was in the hospital for 5 days and then we got to take her home. By then she was in a much more tolerable mood. In September of 2003 Meghanne was once again having seizures and was brought to the hospital by ambulance. She was having several different types of seizures and they were coming one after the other with no end in sight. I was by myself (I could not get a hold of John) and it was scary. I am just glad that since this was not my first trip to the hospital I was not so frazzled and was able to remain calm. We were there at the hospital until late that night, it took a while for them to get a bed for Meghanne. She was not there for a long stay (just over night) and was released the next morning with once again new medications. She was completely taken off the Dilantin and was put on Lamictal and Clobazam. We were also given some other forms of medication incase of an emergency so we would not have to keep coming to the hospital. She was given Ativan (which never seemed to work) and Diastat, which we still use to this day once in a while to control her seizures. Over all they seem to be under control. In October of 2003 Meghanne went in to have a special procedure where a scope is used to look down her throat to see why she has no voice and cannot seem to talk. Dr. Tietze performed the procedure (another ENT specialist) Dr. Abdallah did not seem concerned that there was anything wrong with her voice. We found out that Meghanne has partially webbed vocal chords and that her chords are smaller than they should be for her size. For the time being we have decided to see if the hearing aids will entice her to try and speak on her own (I have not seen any improvement). The next alternative will be to have her referred to a Paediatric ENT specialist in Toronto to have her reassessed to possibly have surgery to fix the problem. Her next follow-up is at the end of February with Dr. Tietze from there we will decide what will be done. In January 2004 Meghanne had an appt. with a Paediatric Neurologist, Dr. Campbell. He has decided to have her come back to London to have and EEG done there at the end of March and have an MRI done in July. He would like to find out what part of the brain is being affected by the seizures and how her chromosome disorder may be affecting them or how it is affect by the seizures themselves. He is just hoping to try and find some answers. He also told us what type of seizure she may be having. He thinks she is having Partial Complex Seizures. Because I have described a few different types of seizures this seems to be the perfect combination off all that I described to him. I agree after doing my own research. We are extremely proud of all her accomplishments as each one is such a challenge for her as you all know. Over the last year Meghanne has continued to improve physically and mentally. Here is a list of what she has accomplished so far: -13 mon. old: Hold her own bottle -13 mon. old: Shook head no in imitation Sits alone for 2 minutes -17 mon. old: Claps in imitation -18 mon. old: Fed herself a french fry Supporting more weight on forearms and learning to control balance -20 mon. old: Put herself into sitting position -23 mon. old: Makes goofy faces at the camera -24 mon. old: Pulls self up to furniture -24 mon. old: Started to creep on hands and knees -25 mon. old: Started to crawl Starting to cruise along furniture -26 mon. old: Learned to say Hi in imitation We are currently in the process of trying to get funding to put Meghanne in daycare for a few mornings a week to get her to socialize with other children. At the daycare we are looking at, they have a special worker that with will work with Meghanne one-on-one to help her progress. The only down fall is that the daycare is 20 minutes away and we just had a baby at the end of February (a boy named Evan) so it will be a bit of a challenge at first but I am willing to do anything if it will help Meghanne out. We are also seeing improvement in her balance and are excited at the possibility of her walking sometime in the near future. She will stand by herself for short spurts and plays a lot with her balance when she leaning against something. Since we were told she may never walk this is a big excitement to us.

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Nicholas B.

Trisomy 16q+ Inversion

Our second pregnancy seemed to be going well. I felt great, the baby was active, and friends were envious of how little I was. At 33 weeks my doctor said I was measuring pretty small, but did not seem alarmed. My next visit was at 35 weeks, and there was no real measurable growth of my tummy or any weight gain. We did a sonogram, which showed IUGR (growth restriction) and a two-vessel umbilical cord. I was referred to a specialist for a level II sonogram. The IUGR and two-vessel cord were confirmed, and there appeared to be a problem with the baby's heart. We had a fetal echocardiogram, which showed a VSD, and indication that there might also be a coarctation of the aorta. The pediatric cardiologist was very encouraging; these cardiac defects could be corrected. The coarctation repair would be done in the first week of life. Back to the perinatologist for another sonogram, we decided to take one unknown out of the picture and find out the gender of our child, we were having another boy!

When the doctors wanted to admit me to the hospital immediately, we begged to be allowed to go home that night. The next day was Thanksgiving, and we were hosting the family at our house. They agreed after a non-stress test showed the baby was doing fine. Our family arrived that afternoon, we re-acquainted our 2-year-old with his grandparents and arranged for my brother to host Thanksgiving dinner. The next morning I was admitted. The plan was to do an amniocentesis on Monday and hopefully deliver the baby on Friday.

After a long weekend in the hospital, my amnio was delayed until Tuesday. At the doctors' suggestion we authorized a FSH test along with lung maturity testing. Nicholas' lungs were not ready yet, so the delivery was delayed, another amnio would be done in 10 days. Preliminary genetics testing ruled out any chromosomal abnormalities. The second amnio still did not indicate lung maturity, and revealed that Nicholas had not grown appreciably during my hospital stay. He needed to be delivered before the uterine environment deteriorated any further. On Friday, December 10th, Nicholas was delivered via c-section to an audience including several neo-natal specialists and a respiratory therapist. He cried before he was completely extracted, and we all breathed a sigh of relief that his lungs seemed okay. I got a quick peek at our tiny little boy before he was whisked off to the NICU for an echocardiogram.

Later that day we learned the more detailed genetics testing had revealed an "unusual arrangement" of the long arm of chromosome 16. We both had blood drawn on Monday to determine if either of us had a similar "re-arrangement". By this time the cytogeneticist had communicated that Nicholas had an inversion and partial duplication in the long arm of chromosome 16, and neither of our tests revealed any anomaly. We met with the geneticist, who could offer us no real information about this anomaly. She had been unable to find any reported cases of similar anomalies, and could not tell us what to expect. This was one of the most helpless feelings we ever experienced. We had a beautiful baby boy with cardiac defects that could be easily repaired, but no idea what other problems he might experience. He was to have the coarctation repair as soon as the PDA closed, and we would monitor the VSD and ASD over the next 2 years.

Nicholas did well in the NICU; he was breathing on his own, with a little extra oxygen administered to keep his oxygen saturation at the right levels. Digoxin was required periodically to keep his lungs from getting too wet. Otherwise, he was gaining weight, was tolerating breast milk through a feeding tube, and appeared robust. When Nicholas was eight days old, on Saturday the 18th, he had surgery to repair the coarctation of the aorta and ligate the PDA. Surgery was successful and he was transferred to the PICU. He was expected to be extubated after 48 hours and then transferred to the floor soon after that. Nicholas was recovering from the surgery well; the echos showed that his heart repair looked good. On Monday he was weaned from the ventilator, but had to be re-intubated after a few hours. On Tuesday he experienced hypotension when his dobutamine drip was changed. He was stabilized, but the doctors were concerned that he did not appear very robust. We received a phone call at 4:00am, Nicholas had deteriorated during the night and was gravely ill. When we arrived at the hospital we saw that he was lethargic, slightly jaundiced, his pupils were fixed and dilated. The doctors said that his kidneys and liver were not functioning. By 6:00 the doctor told us that Nicholas would not live, his system was not metabolizing waste enzymes and was becoming acidic, he was poisoning himself. We had to make a choice, take him off the life support, or wait until he went into cardiac arrest. She assured us that he had not felt any pain.

Nicholas was taken off the machines and we held him for the only time in his short life. He died peacefully in my arms that morning. His doctors and nurses cried with us, it had been so unexpected. When we discovered DOC16 we felt like Nicholas' angel had been looking over us. Some of the helplessness of not knowing anything about his chromosomal disorder was gone. We still don't know what caused Nicholas' condition, and the symptoms that led to his death, but we hope that by sharing our story and experience, and supporting genetic research, some other family will not have to experience the awful helplessness we felt.

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Shaun

Partial Trisomy 16q(24.1)

Shaun was born 2 weeks late with a normal pregnancy in April of 1994. We had no family history to worry about. When it was discovered that he had a Ventricular Septal Defect we were shocked, We were told he'd need surgery at about 6 months, as the VSD would not close on its own. At one month and 1 day old his breathing abruptly changed. We took him to the pediatrician and then the cardiologist. He was diagnosed with a coarctation of the aorta. Both of these congenital defects were repaired 2 days later. His heart is fine. He has no limits and is on no medication.

When he was 9 months old, we moved to a new town and doctor. The doctor became concerned with discrepancies in head circumference readings, and had suspected that Shaun had cranial stenosis. A CAT scan showed that to be incorrect, but did alert them to an abnormality. A MRI confirmed that he had one enlarged ventricle of the brain. They checked for internal hemorrhage, and thankfully didn't find one. It was determined that it was a birth defect. He was diagnosed with Static Encephalopathy-non progressive.

Shaun is developmentally delayed all across the spectrum. He began receiving therapy by 18 months. He first rolled at about the right time, and could sit up (though he sagged) at 10 months. At 11 months he army crawled and began to "cruise" at 15 months. Speech was absent, accept for a few guttural sounds.

I was told by his PT that it would take years for him to get the balance necessary and develop the muscle strength to walk
unaided. Literally 2 days later he let go of the furniture and walked unaided across the room. It was a great day.

At about 4 years old, he was diagnosed with severe oral apraxia, a motor planning problem that is similar to what happens when an adult suffers a stroke and loses his ability to speak. It is physically impossible for him to make his muscles do things voluntarily. Unlike recovering stroke victims who at one time could speak and need only to re learn, Shaun has no such base. He must be taught absolutely everything from how to suck on a straw, blow, swallow, stick out his tongue, where to place his tongue to formulate sounds, etc. Thanks to a phenomenal speech therapist that specializes in this disorder he is making great progress. His first therapist said he would rely mainly on augmented speech, and sign and would most likely never speak. Since starting with his current therapist his vocabulary has grown from 2 words to 40 + in just 1 year. It will still take a long time for him to overcome this disorder, but he will.

Shaun has continued to progress. He does so in a somewhat spiked manor. He has some skills that are way beyond his age, and then some that should accomplished but are still emerging. He is an average of 3 -31/2 developmentally behind his actual age.

In January 1999, we consulted with geneticist to try to find a reason for his disability. They suspected De George Syndrome and were startled to find that he had a Chromosome 16 abnormality at 16q 24.1. They had never encountered this before, and were unable to find any reported cases that involved the same break point. There is no other chromosomal material involved. It was determined that this was a de novo occurrence. His younger sister is unaffected. We had always known that Shaun was one of God's special kids, now we knew for sure.

Shaun is due to start Kindergarten this fall (2000), we expect that he will transition well. He will receive pt/ot/speech through school and will have an aide. Privately he will receive pt and speech.

As there are no other children known to have this precise break point, we can only speculate on his future. There are no new medical issues expected. He will have a normal life expectancy, and will be mostly independent. Nothing is known about his cognitive abilities, so far he has not cooperated when given the tests. I think given the nature of his issues, and vast amount of information un known it is to soon to tell. The school... well they have a different opinion. and that is another story.

Finding out about DOC 16 Foundation has been a God send for us. Through them we found that we are not alone. Our doctors are now aware of DOC too. If we can be of any help to other families, feel free to contact us.

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Charly

Partial Trisomy 16; unbalanced inversion

Charly was very small during the pregnancy, BUT the doctor said, it would not be a problem and decided to simply postpone the delivery date three weeks. However, Charly came two weeks before the first computed delivery date. The birth lasted relatively long but as Charly was born, he did not cry. He was immediately given oxygen. The doctor looked at us for a long time with a peculiar look, as he searched for some words of comfort. He explained he was unable to help, that Charly would look different, he had a cleft palate and a heart-murmur (he was also very small 42cm high and weighed 2590 grams). He was taken immediately to a children's clinic. I had to wait to go with him, I will never forget that overwhelming feeling.

The next day I could leave the hospital and we drove right away to see Charly in the clinic. It was so sad to see him lying there. He was so small. The doctors had no idea what to do. Because of his heart problems he had to go to another hospital in Goettingen (a city) in the cardiology department. He was taken in an incubator to the hospital by an ambulance, and he was also taken in an incubator to every test. It was discovered that Charly had ASD, VSD, an aorta and pulmonary [problem]. He was very weak and was given a stomach probe. One day later his condition worsened, he had a ruptured hernia on both sides and had an immediate operation.

After that he was in the intensive care for three weeks. There was blood taken for a genetic test, however, we trusted the doctors, who thought it would eventually be Pierre-Rubin Syndrome. We stayed another four more weeks at the children's clinic, and then someone said to us that the genetic test discovered that Charly had a partial trisomy 16p because of an unbalanced inversion. The doctors told us Charly would not live long (my mother and I have a balanced inversion). Because of this we could take Charly home. BUT after two weeks we had to go back to the cardiology department for three more weeks, because the situation got worse for Charly and no one knew why. They helped him get better and then we finally were able to go home.

Now Charly was already 12 weeks old. He was so unruly, cried often (quiet and miserable) and seldom had he opened his eyes. He must still now and again go to a hospital because of bronchitis or stomach-intestinal-flu. BUT that is the exception. Charly has always been small and light, however he continually became quieter and more peaceful, and at five months old, he laughed for the first time. Charly has a strong developmental disability, he has turned to Vojta, received early aid from counseling and must develop his speech with phonics. He can not sit or crawl, however he is so cool! We are so proud of him, because he has gone through so much. He is a small fighter! We love him so much. Also, the whole family loves him just how he is. Unfortunately, there are some people, even close friends, who treat him unfairly, but that does not concern us.

I must also write, how happy we are, that there is an organization out there, because here we found no one who has this sickness and the doctors also no little about it.

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Samual

Partial Trisomy 16p+
46xy,der(3)t(3;16)(p26.2;24.1) 

Here is an update on our little Samual, now 3.

Samual was born back in February 2000, at 7lb 15oz. Born with a floppy larynx we nicknamed him squeaky. At days Samual and I were released from hospital and on our way to what we thought would be a perfect world, especially after being told at the age of 22 after having both of my fallopian tubes cut during an emergency appendectomy, i may not have been able to produce children. On leaving Hospital with Samual he had lost weight and being told by the nursing staff that was quite a normal thing for babies in there first week. 2 days later i attended my first Maternal Child health check with Samual, only to be told that he had lost still more weight. Advised to eat nuts and cheese to help with my milk supply i did just that. (how ever there was plenty of milk there). Being a first time mother and all I just did what was advised to me.

3 days later I went back for another weight check with Samual. again only to be told that he was not down to 4lb 3oz. I was advised by the Maternal health centre nurse to put him on the bottle as my milk was not enough for him. I knew there was plenty of milk but also knew in my heart there was some other underlying problem.

I then rang my local GP. (also a very close friend of mine). When arriving at the GP I was told that our little Samual Probably has what is known as Cystic Fibrosis and that he was going to be admitted into hospital for testing. We went straight there.

Samual was now 21 days old and finally aloud to leave hospital after extensive testing to find out why he was not gaining weight. After being told that he had Cystic Fibrosis I lost my milk completely, as would any mother being told there child has a terminal illness. Well we were released again from hospital and ready to start again. 7 days later we had our little boy dedicated to the lord. 3 weeks after being discharged from hospital we had a follow up appointment with the respitory doctor. My husband (Michael) and I thought this was just routine, only to find out that when we arrived there was again more disappointing news. Our son had also been diagnosed with an extremely rare, infact only person in the world listed with an unbalanced chromosome translocation of chromosomes 3 and 16. Both Michael and I were tested to see if the translocation had come from either one of us. it was found that Michael has a balanced translocation of the 3rd and 16th chromosomes. we were then referred to a paediatrician. More testing....Samual at the age of 18mth began and early intervention program. At the age of 11mths Samual sat alone for the first time. We were told that because of the delay in sitting he would probably not walk until he was around 4y/of or if he would walk at all because of the severity of his hypotonia (weak muscles). at 2years and 7 days old our little boy walked 12 steps across our lounge floor. Samual is still attending the early intervention program once a week for 3hrs where he gets Physio, speech, O.T and also gets to interact with other children with Special needs. Samual also has 45mins a week of private speech, and will soon visiting an O.T once a month. Samual also visits an orthopaedic Specialist once every six months for his inturned Feet, he walks on his inner ankle, and is now wearing special shoes to correct this. Samual has also in his short life had many stays in hospital. Samual has undergone many surgical procedures including, a Nissen fundoplication, for servere Gastro-reflux, broncoscopies, gastroscopies, a division of his servere tongue tie and also tonsils, adenoids and a uvulectomy.

Samual is now 3 years old and beginning to communicate well thru makaton signing and some verbal talk. He confidently tells everyone that "my daddy home". When actually his daddy is at work. To look at our little man he does not seem to have anything Physically wrong and we have many people comment on how premmie he was, but in actual fact he was only 8days early. Samual is said to have a head shaped like that of a premmie child.

Mentally Samual is now around 12-15mths developmentally delayed, but enjoying life to his fullest as we are with him. He is a delight to all and is bringing much joy to all who come in contact with him.

I have learnt thru all that We have been thru with our little man to be strong as He is a gift from God and we are only looking after him for the time he is with us and in doing that we will give him our all.

Remember we are all drawn to this world by the colours we are given.

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Michael

Partial trisomy 16Q+

Michael is having problems with his speech. He is almost three and a half. He doesn't talk very well; however he does say some words, but they are very hard to make out. I am around him all the time; therefore I know what he tries to say most of the time. There are times I am frustrated, because I don't know what he says. He is very behind in his motor skills area. He can't do things kids do his age. He is not potty trained. He will not sit for me when I try to explain to him what he needs to do.

His Developmental Delays
Doctor said that Michael is working at a 21 month old level. He is over three now. Michael throws things, hits, pinches, kicks, tries to bite sometimes. He gets very frustrated. I have a 21-month-old daughter that talks non stop. Michael actually picks things up from her. It's supposed to be the other way around, but she should be learning from him.

Michael over all is a bright little boy. He goes to school everyday and is in OT, PT, and Speech Therapy. He is using is hands to talk. He knows some sign language. Learned from therapy. That helps sometimes. Michael knows where the school takes them to play at the park; therefore when we pass by the park after school sometimes he yells "kids, kids, kids. It is not really that clear but I understand him. He knows where to turn going to his grandma and grandpa's house. When you pass the road he yells " pa pa , pa pa." Sometimes he will cry. I have to tell him we will see grandpa in a few minutes.

So he is very bright. He just can't talk and is slow doing everything else. He has been like this since birth. He didn't crawl till he was 11 1/2 months old, walk: almost 17 months old, sit up without support: 9 - 10 months old. Well, I hope someone can give me some more information on this because I know what he was diagnosed with other than that I know nothing about it...thank you.

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Nicholas

Trisomy 16p+

Nicholas, as so many other children like him, was given little chance, if any at all, of surviving past his first birthday. He was born with a cleft palate, ASD, VSD, one functioning kidney, and displayed facial features characteristics of a chromosome disorder. To make a long story short, he is now 7 years old and the most amazing human I have ever known. He thrives on love and affection, has quite a temper, and has an incredibly strong determination. It's funny; his pediatrician still talks about the first time he saw Nicholas, only 2 hours old. He said he could tell by the sound of his cry that he was a fighter. We've had tremendous ups and downs with Nicholas (too many to write about), but he always seems to make it through.

Nicholas walks with assistance, is non-verbal, but lets you know what he wants in his own way and is developing self-feeding skills. His only real health issue right now is his seizures.

I truly believe that Nicholas had and has a guardian angel watching over him. Everyday, for the first two months of his life that were spent in the hospital I said a prayer to him. And now he has a plaque with that prayer above his bed.

"Angel of God, my guardian dear,
To whom God's love, commits me here.
Ever this day, be at my side,
To light and guard, to rule and guide,
Amen"
Nicholas is a blessing to everyone who has ever had the privilege of knowing him. These children are so special; blessing to us all.

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Julia 2004

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