Hereditary Spastic Paraplegia

Done at last! Done at last! Thank God Almighty! It is done at last!!!
.
Looks like my post below, from this morning, worked like washing your car before it rains! I posted that he'll never call with the test results, and he calls! Yay!
.
The blood tests for the last two things he was checking for did, in fact, come back negative today. That was the last of the tests. My doctor told me just now that I am now diagnosed with Hereditary Spastic Paraplegia (HSP).
.
I know it's odd to be celebrating receiving a diagnosis of a degenerative uncurable cripping disease, but I've already had really serious symptoms of the degenerative uncurable cripping disease for a year and a half. I've already adapted to the knowledge that I have such a disease, so it's a celebratory thing now to actually have a name for it! Yay!
.
I'd like to thank the Academy, I'd like to thank God, and I'd like to thank my friends and family all over the country and world who have been there for me, and have prayed that I would someday get diagnosed. Thank you!!
.
It's so nice to know what I have. I was pretty darn sure that these last blood tests would be negative, so I joined some national HSP clubs and email lists like a month ago, and have met lots of other people online who have this disease too. It's nice to have a disease with a home. I just can't go on anymore telling people that I don't know why I can't walk. It's a pretty big thing, and to not know why, was also pretty big. I thank God that that part of my life is over. :-)
.
.
Hereditary Spastic Paraplegia isn't really one disease, it's a category of similar diseases. We'll never know which version I have. There are many, and there’s no way to test for them all with current medical technology. So, one person with HSP can have symptoms a little different from another, because of the variety of the types of HSP.
.
The condition is genetic, which means it’s simply in my DNA. There was nothing anyone did that could have or did cause it. I was just born to be a paraplegic. Isn’t that a weird thing? I never used to know that could happen to a person.
.
If you want to research it more, this is a good page of information:http://www.sp-foundation.org/hsp.htm.

.

There is also a brief description here: http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm

.
The thing that is going wrong, in technical terms, is: "axonal degeneration in the corticospinal tract". This is permanent nerve breakdown in the portion of the brain and brainstem (and spine in some people) that control voluntary movement. Everyone has genes which make the proteins needed to keep nerves and axons between the nerves functioning. My genes were programmed to stop providing some of those proteins as I age. Therefore, some of the nerve signals to move can’t get through.
.
There is no treatment or cure for HSP. All I can do is take anti-spasm medication, which I'm already on, and get mobility equipment, which I took care of a long time ago. That's it. Just get used to it and get on with life.
.
I got worse three times last year, which was fast. That’s why I went from walking to wheeling in less than six months. Then it was stable for a long time. Over the month of July just now, I've gotten worse again. This will keep happening the rest of my life, though it used to happen more slowly (less often) when I was younger, and will probably slow down again in the future. Apparently it’s normal for the disease to really manifest itself when people are in their 20’s, 30’s, or 40’s. I’m 35, now, and it’s been really affecting my life for about 7 years now, so I’d say that’s right on.
.
Now, my torso is as effected as my legs are. I can't sit up without support for more than a few seconds anymore. I used to be equivalent to like a T10 paraplegic, but now I’m like a T1 paraplegic. Incomplete, of course. I can still feel everything, and there’s plenty of moving I can still do. I even take a few steps every morning. I've ordered some taller back posts for my chair, and we've adjusted how my wheelchair gets into my car, and I use my scooter more around the house now. Basically, I've adapted again. :-)
.

Nothing Yet

Well, I don't know what's going on with the doctor now.

The blood test should have taken 1-2 weeks. Today marks 3 weeks since I gave the blood for it.

Monday I called my doctor, and he said he checked Friday and that day, Monday, for results, but they were not there yet. He promised he would call me back Tuesday or Wednesday and let me know if he had received results yet.

By Wednesday afternoon, he had still not called. I called the lab that my bloodwork was sent to. They weren't able to tell me the results, but they were able to tell me that they faxed the results to my doctor on Monday, two days prior.

Then I called my doctor again, to make sure he knew that I knew he'd had the results for 2 days now. He got mad, said he was very busy, and that the lab where he picks up results already closed at 12:30 that day, so he'd get them tomorrow. He promised to call me Thursday with results.

Now, it's afternoon on Thursday. 3 weeks after blood was given. Over 3 days since the results were faxed to my doctor, and the third day that my doctor has "promised" to call me.

I kept not posting here to my blog because I figured that at any moment in the last 1.5 weeks I would have that damn test result. But alas, I do not. So, I thought I'd just update you anyway.

It has been almost a year since I first went to a doctor to try to get diagnosed. It was too much for me after a while, I was at my doctor limit, like I am now, so I took a break. Not including that break in between doctors, I've been seeing doctors and getting tests and waiting for results for 179 days so far. That's 6 months! I've been a chair user for 14.5 months, so I'm already used to it and fully adapted, and I just want to get this darn diagnostic stage over with. Homeschool is starting up, I need to get on with my life. 6 months and still waiting! Could you imagine how it would be on nationalized medicine??!! I'd probably literally never get diagnosed.

I really want to get this over with. I have no more energy for this, it must end soon. Please hope with me that it ends really soon! Like that he calls me back this week!! It's not too much to ask, I don't think.

Thank you!! :-)

Fireworks

Here's a great video. You can't see him, but it's Sam with a sparkler in each hand, while spinning in circles! We had a fun 4th of July! :-)

Doctor Phone Call -- Good Progress

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. :-)