Four Eyes

Kiran saw the genetic ophthalmologist today.  It was an interesting appointment.

Doctors often talk quickly or brush through certain statements or topics – One of the things I have gotten very good at is asking clarification questions – really just asking ANY and ALL questions, unveiling my stupidity be damned.

Dr. D. today brushed past this statement in a long monologue: Kiran has a pretty large deletion.  This is talking about the genetic deletion we have known about since his initial chromosomal microarray at birth.  Since no one had ever expressed anything to us about the size of his deletion, I backed her up and asked for more information.

She explained the size of the deletion really doesn’t matter.  There are (and bear with me here; genetics is not my strong suit) certain spots in our sequencing where there could be a small deletion but because there are many genes in that area, a lot of them are affected.  In Kiran’s case, there is only one gene known affected by his (apparently large) deletion.

And again, we heard this: Kiran’s specific deletion is the first one ever reported.  I asked for further clarification: In the United States? In the world?  The answer: Period.  As far as she knows (and it’s a question we will bring up with our geneticist in June), there has never been another report of this specific deletion.

Again – of course – our unique boy.

She does suspect the deletion does explain some of his diagnoses, but of course, we don’t have any definitive answers on this yet.  We may never.  But that was simply the interesting genetic part of the appointment.

Good news: His pupils continue to dilate FAR better post-op (one year post-op for his eye surgery yesterday!).  His vision is continuing to improve.  Other than watching the small cataract in his right eye (which so far isn’t causing any visual problems), she doesn’t foresee any necessary future surgeries at this time.

We had noted he has an astigmatism at his past eye appointments.  Today, she said he is nearsighted.  She measured his prescription with a magical tool I don’t understand (When I go to the eye doc, it’s that whole “This one or this one” game for 100 years) and determined that all of this information, paired with the intermittent crossing of his eyes, means we should give glasses a go.  Oftentimes, when kids go cross-eyed every so often (and come out of it quickly, as Kiran does), it may be that they are trying to focus their vision.

So.  We ordered glasses for Kiran today.  We will get them in 10-14 days, and we have been instructed to start with one hour a day during a visually stimulating and engaging activity.  This is so he will hopefully keep the glasses on and be able to notice the difference.  It takes about an hour for the brain to register the difference, I guess.  From the one hour a day, we will attempt to increase the time the glasses stay on, as he tolerates.  We already have a follow-up with her scheduled after Kiran’s MRI in May, so we will follow up about how the whole glasses thing is going then, too.

This will definitely be an adventure.  Kiran won’t keep sunglasses on.  I can only hope that if we can power through the first several days and his brain can see and appreciate the difference in vision with the prescription lenses….that maybe this won’t be a constant battle.  Maybe.

But then – he’s one of a kind.  And he definitely has his own mind.

But boy, does he sure look cute in glasses!

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