Jadalyn

Unbalanced Translocation: Monosomy 6, Trisomy 16

My name is Liz Sidener. I just joined the Trisomy 16 group in the last few weeks.

I have received a few e-mails and pictures and I am amazed at the similarity to my little Jadalyn. She is now 15 months old. She has an Unbalanced Translocation: Monosomy 6, Trisomy 16. I still do not have the final karyotype but I'm working on it from her genetic doctor.

She was born September 3, 2003. We had no idea that anything would be wrong and so I gave birth at a small hospital close to my home. My water broke over the weekend but I didn't have any contractions so Tuesday I went in to the hospital. Still no contractions, or very little and not consistent. I ended up getting every intervention
known to man! Pitocin, Epidural and the next day a Cesarean Section. Through the whole thing Jadalyn was fine, no distress, no clue to her health status. When they cut me open and pulled Jadalyn out they knew right away that something was wrong and gave each other a look.

My husband sensed right away from their actions but did not want to freak me out so he remained calm. They whisked Jadalyn away and I really didn't know what was happening. In the recovery room the nurse brought Jadalyn in and said that something was wrong but they weren't sure and so they had to bring her to another hospital in our area with a NICU. This still makes me feel so teary. I have a lot of unresolved issues about her birth and everything else... She ended up getting
transported to Children's Hospital Los Angeles the next day by helicopter. I was stuck in the hospital recovering from my surgery and my poor husband was going back and forth between the two hospitals visiting us. What a trooper he is. The reason I never had contractions, really, was because Jadalyn has hydrocephallus and so her head was large and she could not descend into my pelvis. Jadalyn has a lot of health issues due to her chromosomal abnormality: hydrocephallus (she has a VP shunt), two holes in her heart (ASD/PDA repaired), displaced hips, club feet, malrotation of her intestines (this was repaired) Also, she could not coordinate her suck/swallow reflex and would gag and choke on the least amount of food. So they placed a G-tube in her tummy so that she would get enough food to nourish her.

After she had been in the NICU for almost two months they suddenly had a meeting with us and told us that they thought she would not live, would not grow, would not development and if she did at all she would be severely retarded. We were shocked beyond belief. Someone had screwed up and not told us this long before. After her last surgery in the NICU (Malrotation and G-Tube) Jadalyn began to have respitory distress and different problems. She has laryngomalasia (floppy airway and epiglottis) and so they were concerned that it was not strong enough to stay open and! allow her to breathe on her own. We did not want to do a trachiotomy due to her prognosis. So they told us to come back the next day and she was going to die. Oh my God, I can not tell you the anguish we felt. But she didn't die when they took the breathing tube out. She just kept breathing. She came home a week later with a hospice nurse. She kept breathing (although she was O2 dependent 24 hours a day for quite a few months - now she only has it at night). She kept growing. She is now 26 inches long and 19 pounds. She kept developing (albeit slowly - she is VERY delayed - possibly at the development of a 1-2 month old) and she does respond to us and those around her and she did not fade away (as predicted by the NICU doctors). She is very strong (strong willed too!) and has wanted to be here every step of the way. She kept going under the radar from the time she was conceived. I had every prenatal tes! t known to man and due to the rarity of her genetic condition, it was not detected on the amniocentisis or my 3-D ultrasound. So it was a total surprise to everyone when they finally had to do a c-section and she had a very large head (due to the hydrocephallus) and her body was twisted up (both of her hips are displaced and she has club feet). She looks much better now than in the early days. She is my little beauty queen! She had 5 glorious months of no hospitalization, coming off of oxygen, doing well and then last July she was hospitalized for two months due to a yeast infection in her V.P. Shunt (in her head). I took time off on the California Paid Leave Act (a Godsend!) and lived at the hospital with Jadalyn. She has had about 4 - 5 shunt revision surgeries since July. She has been in and out of the hospital every three weeks and now I'm just resigned to it. The last time she got a gastro-intestinal flu and got dehydrated. Her "trick" is to! hold her breath and turn blue. That is what almost almost leads us to taking her to the hospital. That and vomiting. Right now she has a cold but she is recovering and I am so thankful. This week she has to have a short surgery to put tubes in her ears. She had an ABR Hearing Test in the hospital in August and they could get no response and thought she had complete hearing loss. I could not believe this as she does respond to music, our voices, etc. So they said we should have the test redone after she had recovered from her shunt surgery. First we had to see an ENT (Ear Nose Throat) doctor to see if she had water in her middle ear.

Well, it turns out she has water in both of her inner ears and so this could explain her aversion to moving her head (possible inner ear/equilibrium issues) and also could improve her hearing. Yeah! So I am excited that this will be a positive surgery for her and wait to see how she responds during her heal! ing time and beyond. She is a trooper, a fighter, a winner and I love her deeply. She has definitely changed my life for the better! Here is the most recent pictures taken of her. She is most comfortable in a reclining or sidelying position but she is getting stronger and more able to sit up with our assistance lately. I look forward to being a part of this group and learning from everyone.

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Micro-deletion Chromosome 16p 13.3

Trinity was born with Rubinstein-Taybi Syndrome on July 21, 2000.  She weighed 5lbs

 5 ozs. and was 17 ¼ inches long. Trinity was not   premature, but her mother did have pre-term labor in her 8 month due to polyhydraminous (excessive amount of amminiotic fluid). During that time they discovered that there was a two week growth retardation in the baby. Her head, stomach and femur all measured differently.  Trinity was born at 38 weeks.  We knew before Trinity was born that there was going to be something genetically wrong with her due to the polyhydraminous, but we didn’t know what.  RTS can’t be diagnosed prior to birth and not always right after birth and it is not hereditary.  She was diagnosed 12 hours later due to difficulty in eating and then the neonatologist started noticing different features about her, such as her hands (broad thumb), feet (first big toe and deep crease on the bottom between her first and second toe, the second and third toes are fused together), eyes (broad bridge), ears (lower set), high arched palate, small mouth, small chin.  We almost lost her several times, due to her eating and aspiration of liquids.  She does not eat regular food well due to eating and swallowing issues, so she is on Pediasure for her main nourishment.

Trinity was born with many medical issues related to RTS.  One month after she was born she was transferred to Children’s Hospital in New Orleans, La. for further treatment. She was diagnosed with Pulmonary Valve Stenosis, ASD, and a heart murmur, kidney reflux at 3 months to present, GTC seizures, developmental delays, non verbal, strabismus (2 surgeries), feeding tube for 8 months after birth, several episodes of aspirational pneumonia, April 2003, Trinity passed 2 kidney stones, constipation is always present.

Trinity’s cognitive age is between 6-10 months and other areas it is a little higher, such as her fine motor skills.  We have therapist that come to the house to work with her weekly and she is homebound taught, due to her immune system is so weak at time.  

My precious Trinity has endured a lot in her 4 years of being here on this earth, but there is one thing I can tell you, she is a FIGHTER.  This little girl is the most lovable, huggable and has a smile and laugh that will make you just melt. 

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Del (16) (q13q21)

Our youngest son, Taku, was born on May 24, 1981. I had an amnio during the pregnancy and results indicated a normal, healthy boy. But the test was wrong. After Taku was born, our family life was never to be the same.

Taku stayed in the hospital for three months. I still remember that scene after 18 years when the doctor came to speak to us. The doctor said we better send Taku to an institution or group home because he will destroy our family someday. She also said that this is the only way to keep our family together.

I made up my mind at once and said that Taku is one of our family and he's coming home with us. Everybody said that Taku would not live long and every time I heard that I felt deeply depressed. I recently found an old calendar and recalled how weak, sick and small Taku was.

Taku had a doctor's appointment almost every week until he was four years old. He had to see a wide variety of specialists, including the pediatrician, pediatric cardiologist, audiologist, pediatric dentist, plastic surgeon, orthopedist, dermatologist, ophthalmologist, plus cleft palate clinic, genetic clinic, OT and PT.

He started having seizures when he was four. Sometimes the seizures were so severe we rushed him to the emergency room. Luckily we lived near the children's hospital. Every three months we went to the lab to check on medication levels for the seizure medicine but even with powerful medications, not all of his seizures were suppressed.

When Taku was eight years old he had patent ductus arteriosus surgery. After that surgery his seizures were less severe and less frequent. He had his last seizure at twelve and since then we've reduced his medication little by little until he stopped taking all the medication at 13 _. The doctor said later that Taku's brain needed more time to grow.

Taku started walking sometime that year. The doctor said that if a child doesn't walk by 7, they never will. We are lucky parents.

This spring the pediatric dentist informed us that Taku's tooth roots are very short so he will lose all his teeth someday and a couple of teeth are already moving.

This summer Taku's legs were so sore that he barely walked for a couple of days. We took him to the orthopedist and had some x-rays. They showed that both leg bones weren't in hip socket and Taku would need hip replacement in the near future. That news broke my heart.

His growth is very, very slow. His size is about an eight year old's and he still has lots of mental and physical problems. Taku is a healthy and happy boy now. We are not sure about his future, but we hope everything will be okay. He is a miracle boy and he is my and everybody's love.

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Seth
46, XY, -16, +del (16) t (16;20) (p13.3;q11.23)

Seth was sent home from the hospital 2 days after birth, but wasn't exhibiting any interest in feeding. After 6 weeks of almost daily visits to our family pediatrician, Seth was admitted to Riley Children's Hospital in Indianapolis, IN as "failure to thrive." We stayed 2 weeks and after many tests, including chromosomal testing, we were sent home with an Ng tube since Seth wasn't sucking or swallowing.

About a month later we received the above diagnosis and were informed by a genetic counselor that Seth would probably be a vegetable and would not be capable of interacting with our family. We immediately enrolled Seth in our state's early intervention program and started OT, PT, and Speech Therapy.

Seth is now 6 and a wonderful, loving little boy. He is mentally retarded to a degree, but sometimes seems so bright that it is difficult to really know what he is capable of. He is terribly motivated and works hard at any task he is assigned. He was beginning to walk with minimal assist, but was recently diagnosed with a stress fracture of his left foot and is back to square one. He loves to be on the go and attends all of his older brother's baseball, football, and basketball games.

We have recently had him evaluated by a Neuropsychologist. We feel that Seth has some autistic-like tendencies - lots of self-stimulation movements - and are hoping to gain more insight into how Seth processes information and learns after we meet with the doctor. He loves puzzles and loves to stack things - blocks, books, chalk, cans, etc-anything that is stackable! We use Mayer/Johnson pictures to aid communication and encourage vocalizations (which consist mostly of growls and grumbles). Seth also uses an AlphaTalker successfully and has recently been evaluated by an augmentative communication specialist who feels Seth is highly capable of a more sophisticated device and has recommended a DynoMyte.

We would love to correspond with other families who have children similar to Seth and are always looking for more information on partial monosomy 16, partial trisomy 20.

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Lottie
46, XX, del (16) (p12.2 p13.11)

Lottie was taken to special care at two days old with feeding difficulties. It was there that a doctor discovered some of her reflexes were abnormal. Her progress was very slow and she reached her milestones very late. We were told that she might never walk or talk. A chromosome test was taken but revealed nothing at this stage. When I was three months pregnant with my son George my doctor suggested my husband Paul and I as well as Lottie have our chromosomes tested. It was then that her abnormality was detected. George was happily born without these problems.

Lottie has grown into a lovely 7-year-old. She is very active and takes Ritalin. She attends a special school and continues to progress well. She shows no signs of physical problems although riding a bike etc. took a long time to learn. She is hyperactive, but a really lovely child. She loves shopping, seeing friends, and going to McDonald's just like any other child her age. Her speech is sometimes difficult for strangers to understand but progresses all the time. I would love to hear from anyone with a child with a similar deletion, especially anyone who has a younger child and is concerned for the future. At 20 months when Lottie couldn't sit and everyone else's kids were running around, her future looked bleak. Now we argue about what clothes to wear. I still get a buzz watching her run around the garden - even though she rarely sits still!

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The Laughlin Family
deletion

I am a mom of 2 beautiful children and this is our story. My oldest child is a boy and I was 35 when he was born. The pregnancy was uneventful, and a healthy baby boy was born. He is now three.

When my son was 10 months old, my husband and I tried once again to conceive, and did. Since I was now almost 37, I opted to have an alpha-fetoprotein blood test done. It came back positive. We were horrified. Many people, including the doctor's office, told me the percentage for positive results is high and everything was probably okay. I then opted for an amniocentesis to reassure us that everything would be fine. Well, that's when the roller coaster ride of our life really began!

On a Friday afternoon, I received a call at work asking that my husband and I to come to the doctors office on Monday afternoon to discuss the results with the doctor. Due to the testing that was done, I was expecting to hear the news that our baby had Down Syndrome.

We spent the weekend very upset and discouraged! When we met with the doctor, we never expected what he was about to hit us with - our baby (at this time we now know it's a girl) had part of chromosome 16 missing. We were then being told that this meant that our baby would have facial deformities and probably retarded. We were both, needless to say, totally devastated. We were then told that the Mayo Clinic had concurred with the results. My husband and I had blood samples taken from us to determine where this may have originated. The next day, I had a sonogram performed that determined that there were, at that time, no facial deformities. I then met with a genetic counselor. She tried to gently tell me that this meant that the baby would be retarded, and a high chance that she would be profoundly retarded. I was then told that she probably wouldn't make it to term and if she did, she would probably die shortly after birth due to the brain not being able to tell the body how to function. I was being told that our baby would die! We were crushed. Before my mother died, we had told her that we would name our daughter after her, and now my mother's namesake would not have a chance to hear stories about her grandparents. I couldn't return to work and I sat home all day and cried. I couldn't bring myself to go to work the next day, or the next. I sat home and prayed very hard that our baby would be all right. All of our friends and family prayed too.

Thursday morning at 11:30, I received a call that brought the roller coaster from the bottom of the ride to the top!! It was the doctor from the Buffalo lab that had been doing the workup on this case. She asked me many questions and was amazed at each answer. She asked if I graduated from High School and I replied that I have a Master's Degree in Computer Science. Many other questions were asked and she finally told me that I have the same exact piece of the chromosome missing. Since both of my parents are dead, we could not test them. My brother was tested and his chromosomes are normal. My son was then tested and he also has the same piece of the chromosome missing. This changed everything - now we would probably have a perfectly normal baby girl. Our miracle had happened!!! The doctor even said that this is a miracle - wow - a scientist admitting to a miracle!!! Well, the rest of the pregnancy was fine and we delivered a perfect little girl.

She is now 1 1/2 years old and is being potty trained - her idea! I thank GOD everyday for our beautiful daughter. I think back to what we went through and find myself crying because I am so happy that we didn't terminate the pregnancy. The doctors were going to counsel us to terminate, but something inside said not to. I'm glad that I listened to my "mother's instinct"!

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Microdeletion on 16p

Since birth we always knew our daughter, Paige, was
special, as most parents experience. I even remember
secretly telling my husband how lucky we were to have
such a good and beautiful baby. We soon started to
notice that she was not like the other infants her
age. While they were all progressing and rolling and
sitting and so on Paige was not meeting any of our
milestones. I was a stay at home mom and gave my
undivided attention to my new daughter, so it was
confusing that she was not only missing her milestones
but falling behind when I fully expected her to be
advanced with all of the "working out" we were doing.
I was doing everything right and still no or little
results. So, the testing started and at every turn we
were disappointed with no answers and then delighted
when MRI's etc were all coming back and the results
were that she was "fine". It's been a real roller
coaster of emotions and now we know the ride is
slowing to a stop. We have our answer, and yet NO
ANSWERS. Paige has a VERY rare Chromosome condition.

She has a microdeletion on chromosome 16p. There is
not another reported case as of now, there is no
syndrome, no name, no indication of what the future
holds for her. I cried thinking of what she might be
missing out on later in life. Before I found out, I
had acted out in my mind how I would comfort her with
her first heartbreak, help her pick her prom dress
out, marriage, all the things a mother dreams of for
her daughter. Now I find myself having to create new
dreams for her future. I have learned alot this past
year. My research has led me to pictures and stories
of other children that are worse off, as often as I am
advised to find comfort in the fact that she is not as
effected as they are, it doesn't comfort me. I just
recently decided I have to accept that I may not be
happy with what we know she has, but instead be
delighted with what we know she does NOT have. She is
the happiest child her age that I know, she is not in
pain, there are no surgeries that she is undergoing to
survive. If I start to get down, instead of finding
others who are worse off, I just go to her and her big
"Spongebob" smile heals me. Everyone that sees her, is
drawn to her and her great personality and sweet
disposition. I would not change her for anything! I
would love to share photos of her if you want to print
this story. They will surely give hope and healing to
other new families who are part of this condition or
other chromosome conditions. Because it's not ALL bad!
:)

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