We waited five weeks to meet with a genetic counselor who told us (drumroll, please…) that they really don’t know what Colin’s genetic deletion means. Before they did the test, they warned us that this was a possibility. There is just so much genetic code that has not been studied yet. However, when we were told the gene deletion was on chromosome 5 and I learned that chromosome 5 has been studied extensively because it contains the largest amount of genetic material, I thought they might actually have an answer for us.
Colin has a 5q21.2q21.3 deletion. There is one case in the literature of a girl who had a translocation involving 5q21.3 who had mental retardation, but Colin obviously does not have that. There is some link at 5q21.2 to keratoconus, a thinning disorder of the cornea that causes distortion and reduced vision. There is no *direct* link between keratoconus and Colin’s specific deletion, but it means that it may be a possibility. Keratoconus is usually not seen until adolescence. The genetic counselor just suggested we take Colin for regular eye exams with an opthalmologist.
The geneticist and the genetic counselor want us to follow-up with them once a year. They say that as time goes on and more research is done they may be able to tell us more, so we will definitely stay on top of it. Honestly though, we are not that worried about it at this point. Since there are no direct links to any specific disorders, we really don’t need to do anything with this diagnosis now. We will definitely take him for eye exams annually, but that is the least of our worries at this point. While we certainly don’t want him to have cornea problems, we’re relieved that there is not a direct link to the disease and that they didn’t find anything more serious.
In my last post, I said that I thought alcohol-related neurodevelopmental disorder (ARND) was a fetal alcohol effects (FAE) diagnosis. The geneticist confirmed that it is. I guess they are trying not to use FAE as much anymore because it is such a broad diagnosis. From what I understand, they are trying to find more specific categories or diagnoses. So, while the geneticist says that Colin doesn’t technically have fetal alcohol syndrome, they still sent us home with packets of information on it. We see the developmental pediatrician next week, so maybe we can clear some of this up then.
The geneticist also recommended that we take Colin for a complete child development evaluation. It would a full day assessment where he would be examined by psychology, physical therapy, occupational therapy, speech therapy, nutrition, social work, etc. He’s had a lot of those evaluations already, so we’re not sure if it is necessary, but we will get a second opinion from the developmental pediatrician when we see him next week. On one hand, if he’s really already been evaluated for most of this stuff, I don’t know that we will learn much more. On the other hand, it sounds like the report would be pretty detailed, and maybe a report like this would be helpful if we try to get him qualified for our school district’s bridge services (for age three to kindergarten) next year.
We’re almost inclined to do it just because we have met our family out-of-pocket for insurance this year. We might as well get every single medical service we can before January since it would be “free.” (I use the term “free” very loosely here because we have paid more in medical bills in 2010 than we have paid on our mortgage. It S.U.C.K.S.)
(I am deadly serious when I say that I am trying to think of every medical service we can do before January. I’m even considering a colonoscopy. I’m supposed to have them annually, but I think it’s been two years. I certainly don’t enjoy colonoscopies, but thinking of having a “free” one makes it slightly less revolting. I also tried to get Christian in for a prostate exam. He has a family history of prostate cancer, so I thought he was supposed to have one at age 35. He lucked out that the guideline is actually age 40. I am going to make him have some disgusting moles removed though.)