47 XXY - My Exxtra Special Baby Boy
A Special Baby
Boys that are diagnosed as being 47 XXY prenatally have a much better prognosis than boys diagnosed later in life. I am so grateful that I had that amniocentesis. It gave us the chance to prepare for our special little boy and have appointments lined up for him before he was even born.
Matt was such a sweet little man right from the beginning. He was a much quieter baby than his sister had been. By the time he was 2 days old we realized he was tongue tied and having trouble nursing so the ENT clipped his frenulum so that he could move his tongue better. This condition is hereditary and his sister and father had been tongue tied at birth. It was a simple, in office procedure and he only cried for a moment. However, he still did have trouble nursing even after that.
I learned from one of our specialists, Dr. Samango Sprouse that many 47 XXY boys have difficulty nursing. At two months of age, Matthew had his first appointment with Dr Samango Sprouse. She is a neurodevelopmentalist with an emphasis on young children with genetic disorders. She also has extensive knowledge and expertise in working with little boys such as Matt with 47 XXY. We are very lucky because she is located within a couple of hours of our home. People travel from all over the country to bring their children to her because of her special qualifications.
Matthew also met with Dr. Judith Ross, a pediatric endocrinologist at Thomas Jefferson University Hospital. She directs clinical research that focuses on Turner syndrome (47 XXX) and Klinefelter Syndrome (47 XXY). Matthew was examined thoroughly and enrolled in the first of several studies that he’s participated in. I heard someone say very negatively that they resented their child being a guinea pig and that they would not do studies. I disagree wholeheartedly. The studies that Matthew has participated in have done things for both him and others. He received free care by Dr. Ross and was tracked very closely for his first few years by a doctor with vast knowledge of the anomaly that he has and how children are affected. She provided us with test results as well as recommendations. In my opinion, the participation of our family did help Matt in many ways. It also helps to educate others on a condition that is not well understood. Finally, hopefully, the things that are learned in this study will help other children with 47 XXY, and possibly even Matt in the future. Dr. Ross also prescribed a course of testosterone injections for him at the age of 4, 5 and 6 months old. This is to mimic the testosterone surge that a normal, 46 XY boy would have. After each of the injections, Matthew was much more active and reached his milestones such as rolling over and sitting up. There was a marked difference in his activity level and his progress.
One thing that both Dr. Ross and Dr Samango Sprouse strongly encouraged was that we get in contact with our state’s birth to three program. I’d never heard of the program before and had to spend a little time tracking down who to call. Our coordinator came when he was 3 months old to do our qualification. I had a copy of Matt’s diagnosis for her and Matt qualified automatically based on that. Based on the recommendations of Dr Samango Sprouse and Dr Ross, we started out with a physical therapist and a developmentalist who was also our coordinator. They comprised our team in the beginning. I can’t say enough wonderful things about this program. Throughout the three years we participated in it, we worked with wonderful, dedicated and very well qualified individuals that came to our home weekly to help Matthew. They usually brought a bag of toys or items to help him and he looked forward to them coming. He expectantly looked to see who was at the door whenever it rang and was thrilled to see them. They spent time working with him and also showing me things I could do to help my son. As he got older we added and dropped specialists based on his needs at the time. At around a year of age, we added both an occupational therapist and speech therapist. Matthew never really babbled or made a lot of the vocalizations that my other children had done. He seemed completely uninterested in talking. Dr. Samango Sprouse had recommended that we use infant sign language with Matthew to help him get past his frustrations at not being able to communicate well. That was very effective and he quickly learned the signs. The birth to three program also provided us with Ellie cards. A huge binder filled with photographs of food, toys, and other things that a child might wish to ask for. We put some of the ones we used often on the refrigerator so that he could show us what he wanted. The birth to three program is free and every state has some form of the program, but West Virginia’s was really fabulous. I highly recommend checking into it if you suspect your child may be delayed in any developmental areas.
The only thing that I found disturbing is the unwillingness of our insurance companies to provide any assistance at all. They do not consider these specialists to be medically necessary and do not reimburse us at all. I find that very sad because the services that they provide are so helpful at giving these boys the best start possible. When an insurance company will not assist in any way at all, it puts this care out of reach for many children and families that would benefit tremendously from it.