My doctor just called me. He found the amphysin blood test he was looking for, and how to get it processed, so he wants to send me for that. We talked about what else it could be, and what comes next. I pushed him to think of things other than Stiff Man Syndrome, this last test, because it's really looking like I don't have it, since the first and most common blood test for it was negative, and I want to know what we do next. So I asked him what else we're going to do.
We talked about Hereditary Spastic Paraplegia (HSP), and how those symptoms really match me better than anything else there is. It's a mostly untestable disease, so he wants to eliminate everything else. He does think I have HSP, though, especially because I have two major markers for it: 1) two people in my immediate family (sister & brother) have scoliosis, and 2) I have incredibly highly arched feet. Scoliosis genetically runs in the same families as HSP. And my podiatrist a few years ago said I had the most highly arched feet he had ever seen (and he looks at feet all day, every day!!!). Highly arched feet is a sign of HSP. So, those things, combined with the fact that my symptoms match it exactly, really got my doctor excited about HSP just now, and he said it is a very possible diagnosis.
His only hesitation before he declares that I have HSP is that we eliminate the one remaining blood test for Stiff Man Syndrome. Diagnosing HSP is all about eliminating everything else. And we've done that! Muscles, MRI for brain and full spine, all Autoimmune Tests, Peripheral Nerve tests, everything!! So, he's going to mail me the lab paperwork, and next week I'll go to the hospital to give blood for that last test. Approximately two weeks after that, he should have the results, and then we'll know.
Just to tell you why I'm so sure that test for Stiff Man will be negative, 1) the symptoms really don't match me, and 2), 85% of the people with stiff man test positive in the blood test I already took, and was negative on, and only about 1.7% of the people with stiff man test positive on this second blood test. So, the odds of me still having this disease are bottomed off the chart, they're so low.
This is why I so wanted to ask him what is next, because it's something we needed to get ready for. So, it was a great conversation. At least I won't have to get a babysitter next week for a doctor's appointment, that's nice. I can take the kids with me to the hospital, easy.
So, just to introduce HSP to you a little.... it isn't one disease, but it is a CATEGORY of diseases. Genetic diseases. Currently, there are over 30 varieties that gene tests can be done for. There are also a very large number of other varieties that can't be tested for. So, a person could test negative on the first 30, and still have one of the many other untestable forms of HSP. The other problem is that each of the genetic tests for the 30 known types run about $6,000 each, my doctor tells me. Unfortunately, I don't have the kind of insurance that will allow me to pursue that.
If you want to research it, this is a good page of information: http://www.sp-foundation.org/. Some pages that describe it, I've found, describe me exactly, and other webpages are not quite on. This is because, again, it's a category, and there are slight variations in the different diseases.
The thing that is going wrong, the techincal terms, are: "axonal degeneration in the corticospinal tract". This is permanent nerve breakdown in the portion of the brain stem that controls voluntary movement.
There is no treatment or cure for HSP. All I can do is take anti-spasm medication, which I'm already on. That's it. Just get used to it and get on with life.
Hereditary Spastic Paraplegia is genetic, passed down from my family, but appears to be very rare in my family even, since so one we know of has anything like it. So, that's really good news, meaning it most likely won't get passed down to my kids or grandkids. It'll probably just be recessive for many, many generations, or maybe Brian's genes will knock it out of the gene pool completely. :-) Either way, no worries there. Big relief.
It's an incredibly rare disease. Because it's so rare, there isn't any research being done on HSP. There are a few tiny groups trying to raise money, but it's the more common diseases that get all the research money. So, maybe I was right, maybe I am like FDR, and have a disease that will be diagnosed someday, just not in my lifetime. I'm amazed right now, actually, with how accurate that analogy is turning out to be. Must have been inspiration from God, to help me understand everything! :-) Thank you!
So, this is excellent news, really! It means we're down to only two possible diseases. One more test, and then it'll only be one possible diagnosis. Yaaayyyy!!! Back in April, I prayed that I really wanted this done by the end of July, because we start homeschool every year on the first week of August! Wow, it looks like it's going to happen! It's a miracle!!
Well, that's it for now. It'll be about three weeks, I estimate, until that last test result comes in, but I gotta tell ya, it's such a relief to know that testing is almost coming to an end!!! I did the math, and with appointments, testing, and waiting, I've been actively pursuing this for 5 months now! I look forward to a break. :-)
I can really feel the help of all of your prayers and thoughts for me. I'm so happy we're at this point, and that we're almost done. And I'll actually know what's wrong with me. Thank you, again, to everyone!! I'll keep you updated as more happens. :-)
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