I feel like I could make this a really long, dramatized, interesting post. You know, pauses for effect and all that…
But I really don’t feel like it.
-and since I wanted other parents out there to find this and know somebody’s real experience, I guess when I don’t feel like it, I shouldn’t fake it.
**If you’re not into reading the deep explanations, but you are following Trevor and watching for news, I’ll summarize:
Trevor has been tentatively diagnosed (assumed to have, unless new information arises) with an incredibly rare form of an already incredibly rare disease called
It causes calcium deposits to grow in the brain over time, affecting brain function as it spreads.
It is progressive, degenerative, and life-limiting.
Currently there is no treatment, though there are a few (very few) research teams studying it, so there is hope for a treatment to be found in Trevor’s lifetime.
Now, if you’re into details, keep reading:
A few weeks ago, the team at the NIH let me know that they’d found a variant in Trevor and in me that was in the PDGFRB gene, and was something that causes movement disorder and other symptoms, and they wanted us to come back for CT scans and a consult. Although they didn’t want to discuss it with me further without seeing us there in the clinic, it didn’t take long for me to narrow it down.
I knew they were looking at Familial Idiopathic Basal Ganglia Calcification – often referred to as Fahr’s Disease. (I emailed and asked if they could confirm that, but they avoided answering, and just told me to wait until I got to the clinic, then they’d go over everything with me. )
FIBGC / Fahr’s Disease can cause: Physical Symptoms– like: movement disorder (like dystonia, as Trevor displays) tremor spasticity (as Trevor displays) ataxia (as Trevor displays) Parkinsonism chorea (facial tics or twisting) athetosis posturing (as Trevor displays) instability and falls (as Trevor displays) dysarthria dyskinesia gait disorder (as Trevor displays) sensory changes (Trevor displays a strong intolerance to extremes in temperature) pain Cognitive symptoms –– like: cognitive delay (possible: Trevor really struggles with reading in school) memory loss/malfunction (possible: he does seem unusually forgetful and unaware/impulsive — then again, he’s an 8 year old boy. So… there’s that.) speech disorder dementia Psychiatric symptoms — like: mild to severe psychosis mild to severe mood disorder(s
I tried not to obsess, but to be honest, there wasn’t much material I could obtain to obsess with
, really. This is down to something so rare, not much is out there about it. Approx. 70 families in the world are documented to have this disease. (There’s more to that, but I’ll get back to it). Through some Googling, though, I was able to connect with a mom who has three sons with this disease, and my search led me to her Facebook Page — Leypoldt Brothers.
During my weeks of waiting, she gave me whatever information that she could, and much hope and encouragement along the way. I was grateful to have someone to go to to ask questions, or to just hear “It’s ok to feel that way.”
I kept thinking maybe they’d tell me this wasn’t really it, it was just a guess, nobody has ever seen this mutation, etc… and we’d move on to looking at other things. I thought about adding an entry to this blog about it as I waited, but I didn’t want to be all dramatic, talking about this tragic, rare disease, only to find out it wasn’t what Trevor has anyway. People who love Trevor follow this blog, and it wouldn’t be right to work people up over a “maybe this is it”.
But I’ll tell you — when they found the GCH-1 gene mutation, I knew in my bones that just wasn’t it, even though I desperately wanted it to be — just take dopamine and be a normally functioning kid. It sounded like a dream.
I felt dread going into this, because I felt, deep down, that this actually was it this time.
Fast forward to one cancelled flight, one-week wait, a hotel reservation that almost wasn’t found when we arrived, and an hour wait in admissions, and there we were, sitting in the NINDS clinic, as the doctor explained to me that yes,
this mutation in PDGFRB (c .2083C>T) is known, and has been found in and connected to Fahr’s in another family recently.
I spent a long time there, but essentially what I took away from it was:
- Whether the CT scans show calcification today or not, the tentative diagnosis remains– Trevor and I are too young to be sure we’d have calcifications large enough to see on a CT scan
- This is the diagnosis they’re going with. It theoretically could change if further research disproved the conclusion that this genetic mutation is causative of Fahr’s disease, but as it stands now — this is it.
- There is nothing we can do except treat the symptoms
- This is progressive, degenerative, and life-limiting. Whether it is terminal, and how quickly it becomes terminal can vary widely, so they can’t tell me anything definitive. Only that it will shorten his life, and that it will get worse.
The team has their theories on who else in my family it may be passing down the line to/from, but to protect their privacy I won’t discuss that here. I’ll only say that they are very interested in testing other family members and confirming or ruling out the presence of this mutation to better understand the lineage, and to better inform our family as we go along.
Jason and I are still gathering our thoughts and our feelings.
I don’t know what this means for Trevor. I don’t know what this means for my other children who each had a 50% of inheriting it, and could begin to display symptoms at any time, if they did inherit it. I don’t know what this means for me, either, as this is a disease that typically doesn’t manifest until later in life, anyways. Like, right around my age.
This post is getting long, rambly, and shamefully disorganized (and lacking cute pictures at opportune moments), so although I know some of you may want to know more, such as their theories on why Trevor is manifesting at such a young age, or why this makes me nervous for my own future, I’ll have to discuss it later. I’ll post follow-ups as Jason and I work through this, and as we piece together more of what this means for us and for our family.
For now, this is about Trevor– Trevor’s road has come to an intersection. Certainly not a stop or an end, as that sounds so morbid– but for the road to his diagnosis, we actually did finally get somewhere, and now we get to decide in which direction we head as a family– whether we mope about this and treat it as an execution order, living in fear and anxiety, or whether we move forward with our heads held high and continue with life as it is and has always been.
I think, the best road might be in between those two. We aren’t ostriches, we aren’t drama-queens, we must recognize this for what it is, move forward with courage, and refuse to dwell or settle for a second-rate life for any of us or for our children.
(Is it weird to say I just wish my child had cancer? Something that people know about, that doctors are scrambling to get under their thumb? Something that has a treatment, an action plan, and lots and lots of documented stories and cases? Something that when you tell people, they say, “Ohhhhhh…” instead of “Huh?” Don’t judge me…. this is such a strange place to be.)
I do know that just as I felt the responsibility to write this blog in order to give another desperately Googling parent something to hold on to, I also know that we, as a family with Very Rare Disease rearing its head, have a responsibility to be a part of the solution, the education, the fundraising for research, the information gathering, and the voice of this underrepresented and thus lacking-a-cure disease.
I do know that Trevor looks, to me, exactly the same today as he did 24 hours ago before we knew what we know now. Freckled, goofy, and 8 years old. Oh, and happy.
Did I mention happy?