Several months ago we sent in samples to do a WES Genetic test. Whole Exome Sequencing. To see if there is a genetic reason why Ethan is, Ethan.
We have 3 genetic mutations
1 is linked to cleft and high arch palate. His is high, but overall it’s not causing issues. He does have a 50% chance of passing it onto his kids.
The second one is associated with hemiplegia and dystonia/Parkinsonism. We’re trying to see if Neuro thinks that maybe this is part of the reason he struggles so much with his tone, that maybe his brain injury started the Dystonia and he’s struggling more with it? Who knows. His brain injury certainly makes this all super cloudy, but it may change the treatment approach if we can maybe figure out if one thing is triggering another. They’re not overly suspicious that this specific mutation is causing issues right now because he was fine tone-wise before the brain injury.
The third is associated with Epilepsy. This one isn’t a shocker because there is family history. It does however set him up to struggle even more with this beast because now he not only has 2 insults to his brain but also a genetic factor for it.
Now the other big kicker is that even tho the overall mutation has been seen for the second and third one, his SPECIFIC mutations have never been seen before. It’s like we know the colour is blue, but the specific shade is new. This means we don’t really know how it will play out and affect him because there is no one to compare it to. Ethan loves being unique.
We’re waiting to hear if Neuro has any thoughts on this changing treatment plans, but it most likely won’t.In 1-2 years we can reach out to the lab again to see if any other cases have been found with his specific mutation, but again, the brain injury makes everything super muddy as we won’t know what’s causing what.
And realistically it probably wouldn’t even make a difference. We’ll treat symptoms as they come up, just as we have been. We knew the Genetic workup wouldn’t give us a magical answer, and while we know SOME more information, it’s still all a “we don’t really know, it’s a wait and see” game.