Luke was born on March 14, 2003. He was one day early and the labor went well except it seemed strange when he didn't coming out crying. I don't remember noticing anything out of the ordinary. However, my wife had some concerns over his eyes. Later own they took us to our room and he had a choking spell and the nurse(s) said they had to suction him out a few times. My wife was trying to nurse him, but he would not nurse. A day or two later the doctor performed the circumcision but I think he found it a little difficult. Anyone with this disorder knows what I mean. We left the hospital and he was a perfect baby but struggled to eat for the 1st 3 weeks. In fact the doctor mentioned that he was just eating enough to live. At that time my wife was advised to quit nursing. He started eating better and as a result started to gain weight. He was about 5 lbs and 5 ounces when he left the hospital and was about the same weight after 3 weeks. At some point my wife started noticing that he wasn't bonding with her like our other children had which was a major concern. I really didn't think much of it but boy was I wrong. Time went on and my wife's concerns just grew but the doctors didn't appear very concerned (i.e. Not as aggressive as we'd like).
One of the 1st medical problems we found was acid reflux (thanks to the pulmonary doctor and my wife for pushing things). Luke never really spit up but started having eating problems again. My wife continued to be concerned about other things and so she asked the doctor to schedule an appointment with a Neurologist and that's when everything started to unfold. I thought the doctor would just send Luke to therapy. Instead she agreed that we had reasons to be concerned. She illustrated it by pointing to his head, meaning it wasn't a muscle problem (i.e. Low tone) but an issue with the brain so she scheduled an MRI.
Luke was so laid back for the MRI that they didn't even sedate him. The results were due the next day but we begged the nurse to give us the results and they finally gave in. Well the results were bad. The brain was underdeveloped and they didn't know the cause and didn't know what was to come (i.e. Is it degenerative? etc.).
The person that read the MRI was very nice to talk with us but seemed agitated when we continued to ask questions. Luckily we had a friend that took notes (she has a sister with down syndrome). A few days later we met with the neurologist and she was very kind but had us run some more tests (i.e. More blood and it's hard to find a vein). During our meeting I asked her if she had ever seen a kid turn out okay that had an MRI that looked like Luke's and she rolled her head back and finally said, No. You really got a sick feeling that she didn't see much light at the end of the tunnel.
A few days later we went to an eye specialists and he thought his eyes looked good but thought he was having a problem with visual processing (i.e. He could see things clearly but didn't connect the dots).
Obviously my wife was right he didn't recognize us like our other children. The doctor told my father it was kind of like dyslexia. We then headed to an appointment with our new pediatrician and he was great. He has worked with several kids that have more than their normal share of issues and he quickly pointed out several of Luke's features that lead him to believe it might be a chromosome issue. A few days later the neurologist called with the results and we learned he had the XXXXY Syndrome. The neurologist was actually encouraged when she heard what he had. That made me think that the MRI must have been horrible for her to be pleased. She had never seen a case like this but had hopes that his brain would continue to develop.
So far his heart and eyes have checked out fine but he has one leg that appears to be shorter than the other so we'll need to see an Orthopedic doctor to check out his hip.
We've met a lot of wonderful doctors and are very pleased with the care we're getting. Many thanks to those that have helped us learn more about the XXXXY Syndrome.
We are very blessed to have been given such a sweet child. We love him very much and thank God that we have this opportunity. When you decide to have a child it's a lot like marriage, "in sickness and in health".Story Submitted by: rambrose@bellsouth.net
