Kevin
Mosaic Trisomy 16
My husband and I decided to conceive during the summer of 2002, and have the baby in 2003. We were successful and very happy when the hpt was positive. Our first OB appointment was the week of July 4th. We saw our little butterbean for the first time on an ultrasound, at 6 weeks. Around 12 weeks, it was suggested that I be tested for AFP, but we decided to just go straight for the amniocentesis. I had the amnio done at 16 weeks, only because of my advanced maternal age of 37. Results came back positive for mt16, approx. 1/3 of my son's cells were trisomic on chromosome16. We were devastated, as we had never heard of this. We met with a genetic counselor in ! Atlanta, who also knew nothing of mt16. She did some research, and gave us some info. She basically said the baby would likely have heart defects, mental and physical retardation and most likely I would have premature labor, which would only add to the problems. From everything we had read, it seemed the best thing would be a termination of the pregnancy. We found the website, trisomy16.org, and read all the information we could. We chose not to terminate, because we believed God had a better plan than we ever could, and whether our baby died in utereo or was physically and/or mentally handicapped, we were determined to give him a chance to grow and to be born.
We went back to the Trisomy 16 website, again and again, looking for something positive, something to give us hope. Karen mailed us lots of useful and helpful information, with stories written from courageous hearts. While some made us hopeful, most made us cry. Through all the heartaches, operations, deformities, and death, they all carried the same resounding tone of love. None of the mothers regretted carrying their babies to term, or until whenever the pregnancy ended. Nobody wrote about regrets. All wrote lovingly about their babies and their stories. We were still afraid for our baby, but we were more encouraged each time we read the mt16 stories.
Judging from everything we read through our limited research, it appeared that the main issue with the mt16 is the restriction of the blood flow through the umbilical cord, which in turn causes the baby's body, heart and brain to have developmental issues. We did the echocardiogram to check out baby's heart at 24 weeks, it was normal. We had growth ultrasounds done every 3 weeks, and they appeared structurally normal, except baby was always in the less than 1% in growth size. Even though our baby wasn't growing on track, we held on to hope. We knew we could accept whatever happened.
I wasn't gaining much weight, and neither was baby. At 36 weeks, and the baby at 3 1/2 lbs, the doctor decided my baby needed to come out. We had a c-section on Jan. 22, 2003. Baby Kevin came out crying. He was perfect in every way, except he was small, at 3 1/2 lbs. and 16 inches. They checked him for every imaginable illness, and deformity and only found one, he had a Y-configured uretha duplication. A pediatric urologist was called in, and he determined the problem could be fixed with surgery. His uretha is atropic, meaning it has died, due to non-use. Dr. says Kevin is the 3rd case of urethra duplication he has seen, and the other 2 cases did not have mt16. So, it may or may not be related to the mt16. He stayed i! n Neo-Intensive Care Unit, for 3 weeks, until he could gain up to 4 lbs. They discharged him, and we brought home our perfect little baby.
Kevin is still small for his age, but he is perfect is every way. He is developmentally right on target for his age. We chose not to have Kevin checked for MT16, nor did we test the placenta. The cord blood tested negative for MT16. The nurse noted after birth that the cord appeared to have three vessels, but were narrow. Mentally and developmentally, Kevin is perfect.
Update August 2004
We saw the pediatric urologist for a Cystoscopy, which is a procedure to look inside the urinary tract via the urethra. Kevin was put to sleep for this. Kevin‚s uretha is atropic, and he needs surgery to reconstruct it. Right now, we are justing waiting∑. Trying to decide if we should have the surgery done or not, and if or when.
Kevin sees an endocrinologist to see if he has growth hormone issues. Kevin is currently on Levo-thyroxin once a day to see if it may raise his growth hormone levels (growth hormone) He is not much of an eater, as he seems to be very sensitive to textured foods, and gags often, but we continue to offer a bottle of milk or baby food every 3 hours. He is also on a low dose of Bactrim to prevent urinary tract infections. He has not been sick at all since he was born. No cold, no fever (except for teething), no runny nose, no coughs. He is very active and normal in every other way.