When our son was diagnosed with 49, XXXXY Syndrome, he was only 6 days old. Finally, after almost a week of being in the NICU, we were able to call our baby, "our son" and name him Thomas James.
When Thomas was born, the doctors on site were unable to pronounce him girl or boy because of his "underdeveloped genitalia." This was of course the last thing we had expected as ultra sounds labeled him a boy on two separate occasions. Although his heart beat, breathing, and everything else seemed to be perfect, our small baby was rushed off to the other major hospital in town to be sure nothing else was "underdeveloped." We were told not to name him and not to refer to him as son or daughter until the chromosomal tests came back. We could use the term "it."
18 hours later, I got to really meet this little person who was kicking me for the past 9 months. This child was beautiful! When my husband and I finally saw his "underdeveloped genitalia", I thought, "How could this not be a boy? He has normal sized testicals and a small penis." Still, the doctors insisted on not giving him any type of sexing until the chromosomal tests came back so they were sure.
When the tests finally came back, we were called into a small room with a few doctors, a specialist, and a genetic councilor. They told us our baby was a boy. At last! We can name him! They also informed us of 49, XXXXY Syndrome. We were given somewhat of a bleak outlook for our tiny man. Leaving the hospital dumbfounded and confused, we wondered if Thomas would ever walk? or feed himself? Would we ever park in handicap parking?
The next few days before Thomas came home were filled with questions to the specialists from two very questioning new parents. Barely any of our questions were answered because the answers simply weren't known.
Luckily, we have come in contact with other families with children with 49, XXXXY Syndrome. We have learned so much from these families and their real life situations. My husband and I try to get our hands on every bit of information available, although limited, to learn and in turn, pass this information on to Thomas's doctors.
The reason for this site is to inform both doctors and families alike. When Thomas was diagnosed, there were no other sites out there that had information on this syndrome; with the exception of a being linked with Klienfelter's Syndrome (47, XXY) or a paragraph here or there on a medical website. My husband and I gathered all the information we could find and assembled everything into an easy to read and understand website that also included a glossary. Through this process we have come in contact with so many wonderful families and have made many close friendships. We are very happy with the result and are always welcoming new stories to the "People with XXXXY Syndrome" page.
His doctors today are very positive and happy with how well he is doing. We have a perfect little boy who brings us so much happiness! Just to see him smile makes us melt; to hear a laugh makes us giggle right along with him. Thomas is perfect to us, as all children are to their parents!
We hope this site provides much information, and possibly answers to questions that seem to sometimes be unanswerable.
For more on Thomas James, click here.
