Genetic and Rare Diseases Information Center (GARD)

After I made my last post, I was thinking about what difference it makes that Javy doesn't have a diagnosis. Imagine if your child suddenly started coughing uncontrollably and having trouble breathing. The doctor's run tests and they can't seem to find the source for these symptoms. Your child's get worse and has to be put on a breathing machine. Your whole world now becomes about your child and trying to figure out how to ease your child's pain. And the doctor's are totally into finding out why, because these symptoms are becoming life threatening, so they work diligently to find out why???

Well, with Javy, his lungs work, his heart works, its seems that he will have a long, healthy life.... Except for the fact that he is noverbal, his legs are so tight they cross when he tries to walk, and he has the mind of a 12-18 month old. He's eight years old and he just now is figuring out how to push his wheelchair independently. He needs assistance to feed himself, bathe himself, to do just about everything. Healthy, but far from any kind of independent life. So year after year they geneticist run tests that always come back negative, he has the occasional MRI, that give no clues as to why this is happening to my child. We've asked plenty of doctors why. Some have pretended to be sympathetic and interested, while some have kind of given the impression that they could care less. One doctor we saw in Birmingham, just kind of shrugged his shoulders like who cares, when my mom asked if there were any more tests that could be done. We even tried to get him into a new program at the Children's Hospital in Birmingham that would run more specific tests like a PET scan, but we were told that it wasn't medically necessary for Javy. So we wait, hoping that this year, the geneticist will pull something out their hat.

So I'm thinking about all this stuff, I mean who does care. I mean, why does it matter. Javy is healthy. After all, treating the symptoms is what they would continue to do even after they found a diagnosis. Over the years, I've learned to just go with the roller coaster ride that comes with Javy's condition and appreciate all the good. But still there's just something missing... I can't just be satisfied with that. What if there was something simple we could do after we find out specifically what part of the brain was dysfunctional? What if there's something that I'm doing with him now that's making his condition worse, like certain types of food or whatever? Too many what-if's already! It's really really tough, but we got to keep fighting even when we get those blank stares from the doctors.

How amazing is this? I'm watching CNN cause that's what is on at work, otherwise I would never watch CNN. Sanjay Gupta is doing a report on the Disease Detectives, who people go to when no one else can find out what is wrong with them. Now I'm thinking, well, Javy doesn't have a disease? But I go to CNN.com and look up the story and there's a link for the National Institute of Health. And it's there that I find a tab for the Genetic and Rare Diseases Information Center (GARD) http://rarediseases.info.nih.gov/GARD/Default.aspx. So there's all kinds of links that I have yet to explore and I even found a research clinic that may be beneficial for Javy. More to come on this subject...