Hello. My name is Becky and I have a 6-year-old son names Jesse. We were told in 2005 that he had DC. The signs started when he was about 1 ½ . We are from a really small town and no one here had answers to questions. We had a sick child and no doctor could find out what was wrong. We finally got a referral to a larger hospital and were finally going down the right track. It took about 1 year to get to that point. We didn’t know it was just the beginning — another year went by and several possible diseases ruled out. Finally we were getting somewhere on this.
When we were told that he possibly had DC we were in shock. We had no clue what was next. We started him on Anadrol. It seems to work for him so far. We’ve seen a lot of doctors. He has had several platelet transfusions over the last 2 years. Jesse has the transfusions done locally and can come home in a matter of 2 to 3 hours. Most of the time he does pretty good. He really loves life. He is getting old enough to realize that he is a little different. He knows that he goes to the doctor more than other children. The hard part for him is that he is a very active child. Jesse just loves life and playing. When he sloes down we know that another hospital visit is in the near future.
We are trying to let him be a normal kid with limits. We put him in school this past year. We take him out on the times we know there is a lot of illness. Jesse’s ANC counts run low so there is always extra caution when it comes to illness. This past winter he only had one hospital stay that lasted longer than 6 hours. We have seen many different specialists lately doe to other complications. We are having trouble with watery eyes and ear infections. Those are the minor problems for the big picture. We are now having problems with his cholesterol and triglyceride – they are both way too high. Jesse is adjusting to a different diet. We try to make it for the whole family so he doesn’t feel bad about it.
We were contacted by the NIH  in 2006. Jesse was flown out to Maryland to meet the team in September 2006. They have been a big help with answering our questions that no other doctor we’ve seen could answer. Now our main focus is keeping his CBC counts good and healthy. The medicine that he is on has put him into premature puberty. He has taken changes with his voice and body hair with ease. Jesse’s overall health is good – we take it one day at a time and count everyday as a blessing with him. I am willing to talk to other parents and patients. All the information we can share may help.
Becky and Jesse.