Unbalanced Translocation: Monosomy 6, Trisomy 16
My name is Liz. I just joined the Trisomy 16 group in the last few weeks. [December 2004]
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 develope, 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 healing 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.