I don’t think this post will be long.
I’m not sure what to say, and I’m frustrated, and I hate posting negative posts. Jason encouraged me, however, to go ahead and post while I’m still frustrated and worried, because I started this blog to reach out to other parents in situations like this… and do I really want them to think I’m always fine with all of this?
He’s right. Other parents should see that this is really getting to me. That I worry about a lot of things. That this can feel very, very hopeless at times.
So– the NIH got back to us a few weeks ago, after many months of waiting. But… it wasn’t what I’d hoped for (which was a simple hope, really. Just an answer. A name. An explanation. A springboard for a plan.)
It was, instead, what we are used to.
“We found something, and we don’t know what it means. So… we need more testing.”
Yep. They told me that they’d found something while analyzing the dystonia panel, but they don’t know if it’s significant. So, again, Jason and I needed to have genetic testing done as well, to see if either of us carry the same variant that they spotted in Trevor.
They also told us that the HSP (Hereditary Spastic Paraplegia) panel came back completely normal. So he doesn’t have that. (We really thought he had that. )
Now, a little background — Trevor has always been noted to have dystonic posturing in his left foot. They, at first, suspected Dopa Responsive Dystonia for about a year, and we were so very hopeful. Dope Responsive Dystonia would have been the only thing in The List of Things that we would have been happy about, because it’s actually treatable. Find the right dosage of dopamine, and BAM–he’s a completely normally functioning kid. But… each test they attempted to use to confirm DRD came back ambiguous. Jussssst suspicious enough to keep them looking, but never confirmation. Spinal tap, genetic testing (that’s where Jason also had the same variant, but they decided that if Jason had the variant and no symptoms, and Trevor wasn’t responding to dopamine, and they didn’t really recognize the variant anyways… then Trevor doesn’t have DRD.)
So– Dr. Blackstone wanted to look for HSP, and also Dystonia types 1 and 6, which are the ones it would be if it wasn’t DRD (type 5).
When they told me they’d found a variant and needed blood from Jason and from me, they would not tell me what the variant was, yet. They just asked me to be patient while they analyzed Jason’s and my DNA, and that I’d know more in a few weeks. By looking over the notes from our visit, Dr. Blackstone only wanted to test for DYT1 and DYT6. So… unless he changed his mind and ran a full panel and never mentioned that, then I can only assume that’s all they tested for within the dystonias.
Yesterday, I received a response from them that said this:
“Thanks for checking in with me. We have the results back on you and your husband’s blood work and you carry the same variant as Trevor. This could mean one of two things:
1. The variant is completely benign (since we assume you do not have symptoms) and is not the culprit.
2. The variant is the culprit and you have mild to no symptoms
To help sort this out, Dr. Blackstone would like to invite you and Trevor back to the NIH for further evaluations including MRIs and CT scans of the brain. Our study will pay for your travel (plane) and your hotel stay.”
At first I thought, “Oh, wow. So Trevor’s disorder/disease comes from my side.” but then I realized, no… this could be just like when Jason had a similar variant– essentially, an odd little genetic mutation that means nothing, it just happened to show up in the location that they were looking for something else.
So my assumption was that they want an MRI and CT from Trevor and from me so that they can look further into the dystonia possibility. That, in itself, frustrated me… because now I wondered, “Well… does this mean that I could, at any point in my life, begin to deteriorate like Trevor?”
It was a lot to think about. I emailed back and asked oh-so-nicely (maybe twice) if they could please tell me more about this variant. Where is it located? What gene? What is it called? Has it ever been seen before?
But… it was a Friday afternoon, and I heard nothing back — of course, leaving me to obsess. As I read and re-read and re-read about both Dystonia type 1 (DYT1) and Dystonia type 6 (DYT6), I realized something I’d forgotten about dystonia in general — MRI and CT scans are normal in primary, uncomplicated dystonias.
So what, then, are they looking for when they fly Trevor and me
back out to Maryland?…
Disclaimer: When a genetic panel comes back normal, it technically doesn’t mean you don’t have That Thing. It means you don’t show *any known variants* that cause it. So, sometimes, people say “Oh you could still have it, just without genetic confirmation.”
Well, who the hell wants that conclusion? “Ummm… welp… we didn’t find anything. So.. we’ll call this _________. Sound good? Ok. Bye.”
To me, that’s worse than real answers, even if I don’t like the answers.