Autism or Fragile X? A Rare Emotional Post

Lately I don’t “diary” much anymore.  Mainly I blog and sometimes I journal.  Today I want to “diary” though, just to vent a little bit of frustration and sadness.

Today the doctor called and told me she was finally able to find a lab that could draw (blood) for a test for Fragile X Syndrome.  So the order is at the doctor and we just have to pick it up and take it to the lab.  I am not looking forward the scene where Charlie gets his blood drawn for this.  I can’t imagine he will sit still for it, and I’m sure it will be traumatic.  But I don’t want to dwell on that.  If the roads are clear tomorrow, we will go get that test and get it going as soon as possible.  It takes 2 to 4 weeks to get back.

Anyway, if he does have Fragile X, it would explain a lot.  The autistic behaviors, the language delay, the persistent developmental and learning delays, etc.  If the result of the test is “negative” then obviously good that he does not have Fragile X.  But it would still leave the question of what is truly wrong with him.  He is autistic, it seems, but not to the extreme that most expect when they picture someone with autism.

If the result of the test is “positive” then obviously I will be sad that my child has this chromosomal disorder.  But it would explain so much.  Fragile X can cause autistic-like behaviors, mild to severe retardation, and obviously developmental and speech delays, and more.

If you don’t know what Fragile X is, here is a short explanation.  It is a genetic mutation of the X chromosome in one’s DNA.  Boys have an X and a Y chromosome and girls have two X chromosomes.

In this particular mutation, a string of DNA along the X chromosome is either missing or is not there to the extent that it should be, creating a “fragile” appearance to the structure of the X, thus its name, “Fragile X Syndrome.”  This mutation causes an overproduction in the body of something called “mGluR5″ which causes all kinds of problems.

Because it is chromosomal, it manifests not just in developmental/inward problems, but in physical appearance as well.  In addition to the autistic behaviors and delays I’ve already described, it also can cause:

• Long or pointy ears
• Long face
• Large head circumference
• Strabismus (being cross-eyed)
• A symian line on one or both hands (this is a single line all the way across your palm, instead of two lines that curve to miss each other)

And a few other things I can remember just at the moment.

Charlie has several of these features.  Long face, pointy ears, large head circumference and mild strabismus.  Oh, and he is in the 98th percentile for height, which is also a feature of Fragile X.

Here is the kicker.  Fragile X can occur in both boys and girls, but it almost never shows up very obviously in girls because they have TWO x chromosomes, which makes up for the deficit in the structure of the X.

And since it is genetic, if Charlie has it, I probably have it – or gave it him, rather.

And I have several of the physical features as well.  I have the symian line on my left hand, long face, very long ears and a big head.  I also have some of the behavior symptoms that show up most often in girls.  Such as extreme shyness (especially when younger) and typically being really bad at math, to the point where just intermediate math is really hard (that’s me!).  I’ve also always been pretty day-dreamy and ADD (not hyper, just have difficulty concentrating and am easily distracted).

I also communicate MUCH better via the written word than the spoken word.  So much so that I often finish a phone conversation and jump on the computer to flesh out what I was trying say to someone in e-mail.  This is a feature that is coming out in a lot of autistic people who can’t communicate by speaking at all, or very little, but who can write out communication on a typewriter as if they had a degree in literature.  It’s kind of wild.

So anyway, if you ever interacted with me and said, “That girl just ain’t right” – It’s quite possible that you were dead on the money, provable by blood test.  LOL

Anyway, if I’m wrong, I guess at least I know a lot about an interesting subject.  And just move on to the next step of trying to help him.

If I’m right, then it’s on to figure out just how to treat him.  He would need to be seen by dysmorphologists, specialists, and see what else is available to help him.  I guess I will cross that bridge when I get to it (in 2 to 4 weeks).

In the meantime, I did not mean to write this big, long post.  I simply came on here wanting to say that my Bubbee has a hiccup in his brain, and I don’t know how to help him, and I feel sad.  I really hate seeing him struggle.

Here are a couple of pictures of his cute, pointy ears: