There's no need to go into a historical account of the past 5 years. Anyone who reads this blog knows much of what we've been through. The MRIs, EEGs, doctor visits, blood draw after blood draw with no real answer. Last September our geneticist suggested exome sequencing. It had just become available to the general public (with a $10,000 price tag and the hopes that insurance would cover it). We agreed and they took our blood that day. They said it could be up to 6 months before we heard anything.
Mommy, Ethan and Daddy after our blood draw
Ethan chose the star sunglasses out of the prize box
Fast forward 10 months (which happened to be last Monday). I get a call from the genetic counselor saying they have the results of his exome sequencing and they have a diagnosis. I am in shock. After 5 years of hearing, "All results came back normal. Still no answer," I just don't know how to respond. As she's talking to me, everything is in slow motion. Owen is screaming in the background (I didn't expect an answer, so I didn't prepare by giving him something to keep him quiet) and I don't even have a pen and paper in hand (I used to be prepared with a notebook, pen and a list of possible questions, but in the past I would hang up with the word "normal" written on the page and no answer next to any of my questions). But this time she had an answer and this is what she said:
Ethan has spinocerebellar ataxia 29 (SCA29).
It's a congenital (present from birth), autosomal dominant nonprogressive condition.
This is a brand new gene change in Ethan,
and was not inherited from either you or your husband.
This condition is extremely rare and without the exome sequencing,
we very likely would never have found his diagnosis.
It's so rare, in fact,
that there are only 7 pieces of information I can find written about it,
which document less than 10 people with this condition.
The best part, again, is that it is nonprogressive,
which makes it different than the other spinocerebellar ataxias.
The condition is static (meaning it doesn't change - get better or get worse),
but those with SCA29 often do slowly improve as they adapt to the condition.
After my conversation with her, we set up an appointment to meet with our neurologist and geneticist. We had that meeting this past Monday, where we discussed his diagnosis in more detail. His neurologist ordered an EEG, just to keep our eye out for seizures (those with SCA in general can have a higher risk for seizures) and an appointment with an orthopedist to get a base-line look at his hips and back (because of his ataxia and low muscle tone, we know problems can arise in the future). They also gave us a few websites where we can go to get names of people who might have more information about SCA29 or might be able to get us in touch with the few others they know of who have it (which, right now, seem to be less than 10 people in the world).
Ethan yesterday with his neurologist and geneticist
Monday night I sent some emails to a few researchers and then today I sent an email to a neurologist at UCLA who wrote one of the articles on SCA29.
Two hours later she called me. I said, "Thank you so much for contacting me so quickly."
She said, "I don't know if you realize just how rare your son is."
I think we do.
So, we'll continue to contact researchers and specialists with the hopes of finding and speaking with the few other families out there who have SCA29. And, as our neurologist said, there are probably others out there with the same condition, but haven't had their exome sequenced, so they don't yet know that this is what they have. Again, the best news is that this isn't progressive, so everything Ethan works so hard to accomplish each day will stay with him. And as we enter this new stage of our journey, know that we will continue to appreciate all your prayers and positive thoughts for our family and especially for Ethan.
After my conversation with her, we set up an appointment to meet with our neurologist and geneticist. We had that meeting this past Monday, where we discussed his diagnosis in more detail. His neurologist ordered an EEG, just to keep our eye out for seizures (those with SCA in general can have a higher risk for seizures) and an appointment with an orthopedist to get a base-line look at his hips and back (because of his ataxia and low muscle tone, we know problems can arise in the future). They also gave us a few websites where we can go to get names of people who might have more information about SCA29 or might be able to get us in touch with the few others they know of who have it (which, right now, seem to be less than 10 people in the world).
Ethan yesterday with his neurologist and geneticist
Two hours later she called me. I said, "Thank you so much for contacting me so quickly."
She said, "I don't know if you realize just how rare your son is."
I think we do.
So, we'll continue to contact researchers and specialists with the hopes of finding and speaking with the few other families out there who have SCA29. And, as our neurologist said, there are probably others out there with the same condition, but haven't had their exome sequenced, so they don't yet know that this is what they have. Again, the best news is that this isn't progressive, so everything Ethan works so hard to accomplish each day will stay with him. And as we enter this new stage of our journey, know that we will continue to appreciate all your prayers and positive thoughts for our family and especially for Ethan.
