Recently, I’ve had a few friends who have spawned some amazing children – happy, playful, learning, doing. I see the pictures on facebook and twitter, and part of me hopes that they’re okay (EDIT: I don’t mean that another part of me hopes they aren’t; perhaps “wonders if they’re okay” would be a better phrase?). I wanted to send out this message to them, as well as to those who are just following Armand but don’t know us: have your children tested. At birth, at least in Ohio, there is newborn testing for various common diseases. But what if your child is uncommon? What if he or she truly is one-in-a-million?
When we were first investigating what was wrong with Armand, he had a muscle biopsy done. The day before he went in, he had to have a check-up by his pediatrician. She said that they most likely would be doing the muscle biopsy to look for metabolic disorders, and because he was screened at birth for the most common ones, there was a very low likelihood that they would come up with anything. Well, there was approximately a 0.0005% chance that he would have GM1 – even lower if you count that he has Type II (0.000125% chance).
Your first step will be to meet with a genetic counselor at your local hospital. From there, they may be able to point you in a direction on the best way to get your child screen, possibly through a DNA or genetic blood test. This test may or may not be covered by insurance – but if you have the money to cover it, it’s completely worth it. You may find something out you never would have known otherwise.
There’s a lot of “what ifs” for us in this regard. If Armand had been tested in this way shortly after birth, would we have been able to get him started on miglustat sooner? Would he still be more “himself”, a stronger little dude still able to say a few words and walk and play? Would it have changed anything at all? I don’t know, I can only play the cards I’m dealt. But if I can pass on this advice to other people, and possible save a child’s life, then maybe there’s a lesson to be learned. Maybe I’m ‘supposed’ to be an activist for this – who knows?