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 him 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.