Hello Everyone! :-)

I have an undiagnosable progressive neuromuscular disease. It's most closely related to Primary Lateral Sclerosis in its symptoms and progression.  We attempted diagnosis for 3 years, but we are resting from that now, since my disease is so rare and it appears it won't be diagnosed in my lifetime (see more on that below).  

We've noticed that as the disease slowly progresses up my body, affecting legs, then hips, then back, then arms, etc., that the affected muscles change.  Once affected, each region of muscles in my body becomes pseudohypertrophic, meaning that the muscles get physically bigger, but are actually partially replaced with scar tissue or something, so that the muscles, while appearing bigger, are quite a great deal weaker. 

My muscles are strong for a brief time (a few minutes) when fully rested (like not moving at all for 4 hours).  The muscles seem to just wear out incredibly quickly.  It's like the exhaustion that a person gets after running several miles, more miles than that person is conditioned to run.  After a while of that excessive running, you just have to sit down or collapse to the ground.  If I'm totally rested, and haven't moved a muscle in 6 hours, then I go from completely refreshed to exhausted and either sitting down or collapsing in about 3-5 minutes.  After which I'm very tired, and can't do that again for a few more hours. Or sometimes I do a minute here, then rest, then a minute there, then rest, for a total of about 3-4 minutes, then I have to rest for several hours.  This is how it works with my legs, and has for the last 4 years.  My back hit this level last year, and my arms are almost completely there now.  Once a part of my body is affected by the disease, and after those muscles go through the change to pseudohypertropy, which takes about 6 months to complete per muscle group, the weakness level, like that of my legs and hips as described above, has so far remained constant. 

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ATTEMPTS AT DIAGNOSIS

We did what it took for 3 years in our many attempts to get diagnosed, however, after that time, both we and the doctors were ready to stop.  I'm very grateful that we're done, because I like just living my life, and I don't like being with doctors all the time. 

Here is the brief overview of those experiences:

Neurologists #1 & #2 -- We don't know, we're not specialists.  Go see someone else.

Neurologist #3 (specialist) -- It matches PLS (Primary Lateral Sclerosis) except that PLS can only occur from the head down (bulbar onset), not from the legs up (legs onset) like you have.  See one more specialist.

Neurologist #4 (Mayo Clinic-equivalent super-specialist) -- It matches PLS except that PLS can only begin after someone turns 50 years old.  Also, you have strength for a moment then lose it.  Someone with PLS would be consistent in their weakness. I don't know what you have.

Note:  The reasons that Neuro #3 & #4 stated in order to prove I don't have PLS negate each other, (meaning: the one had no problem with me being under 50, and the other had no problem with legs onset).  In addition, both of those statements are disproved by other people diagnosed with PLS here on Patients Like Me. 

The part of the disease, however, that I am strong for a moment and then weak for a long time, they say, is not consistent with PLS.  They say that a person with PLS would be more consistent in their weakness.  That symptom is probably the key to isolating my unique disease.  (Or, another possibility is that it could be that that's how the disease presents itself in patients in their 30's, since my doctors were not familiar with how PLS would present to a patient as young as me).

I appear to have a really rare form of some disease.  Something that is so rare that it hasn't yet been identified and categorized as a disease yet, at this time.  There's no cure for similar diseases at this time yet anyway, so it's no loss to me not to have a name for my disease.  :-)

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CONSISTENCY OF PROGRESSION

Here's a list showing affected areas (which is from the listed spinal cord nerve root location, meaning I'm affected from that location and down) for the listed year; and where I was in January to where I was in December of that year...

2006-07  Sacrum                 difficulty walking, then a cane, then crutches
2008       L5 up to T10          manual wheelchair, legs affected
2009       T10 up to T5          manual chair, legs and lower back affected
2010       T5 to C6                manual wheelchair then switch to powerchair
01/2011  C6 to C5               powerchair, legs, back, and hands now affected
03/2011  C5 to C4               forearms now weak, like torso, hands, legs
06/2011  C3                        breathing affected, saw pulmonologist
12/2011  C1                        chest, upper arms, upper back now affected
01/2012                              neck support now required

>> This appears to reveal a very consistent pattern of 6-7 vertebral nerve roots of progression per year. 
 

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RECENT HISTORY

January 2012:

As each new part of my body becomes affected by the disease, the muscles go through a pattern.  Currently, this is happening with my pectoral, bicep, deltoid, neck, and upper back muscles.  Newly affected muscles are those which I'm still used to using all the time, because I'm still used to being able to use them, but they get very weak and also injured with very little use (like raising my arm up once, for one second).  Then I ice the muscles, and wait several days for healing for the muscle pain to go away.  This pattern tells me that the muscles there have grown much weaker.  Even once the muscle heals if I let it rest enough, it will never be strong again, and must then be rested for several hours at a time before I can use it briefly.  

Based on my history, that the next step, the step that I'm almost at now, is that my arms and neck will be as weak as my legs, or more accurately to say, they will need to rest as long as my legs do between uses, which is several hours between use.  This means I am now at the stage where I have to figure out how to live my life going for several hours without using my arms at all, then use them briefly (I'm using that time now for meals), then rest them again.  Sometimes my arms aren't done recharging when I'm hungry, so we've already begun the part where sometimes people have to feed me.  Not to give me a plate of food, but to put bites of food in my mouth for me, because sometimes I'm hungry but my arms are too tired to move.  I have also this month started to wear a neck support to keep my head up.

January 2011:  

My triceps have now joined my lower body in being very weak.  So, now I'm very weak from C5 down, only a little weak from there up to the neck, and fine above the neck.  

As of last month I now sometimes can't shower myself or get myself food, and need to have these things done for me on occasion.  I can still feed myself if the food is cut up and the plate is placed in my lap.  My friends are bringing us food sometimes and my husband is doing the rest of the meals.  We are looking into long term solutions to keeping me fed.  My husband has become my caretaker a lot more, and is fully helping in showering me and getting me ready in the morning.  I'm pretty much at the stage where if something isn't in my lap, my arms can't get to it and I can't lean forward to reach it.  

December 2010:  

Just finished my final attempt to get diagnosed.  We just went to my 4th neurologist, this one at a place that is Mayo-Clinic equivalent (and very far away).   Whatever disease I have, it's too rare for anyone to have seen or heard of it before.  My husband and I will just have to take care of me completely on my own, since the doctors just keep sending me home with nothing.  At least I don't have to keep going, since it's always so fruitless. Also, we finally finished buying a ramp van.  

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PHOTO

The photo posted here on PLM was taken November, 2008.  I am now in a power chair, the boys are a lot taller, and my husband is still as cute as ever!  :-)