Hi Sille,
I doubt you’ll find more active forums, because it’s a very rare disease, I think I read estimates are 500-2000 cases in the US. I’m excited one exists at all!! ��
I've never read or heard of any of those symptoms in your second para being associated with PLS. For me personally, I don't have any of them.
My progression of symptoms, over 3 years, in 6 month increments, looked like this:
-January 2015: 49 years old, ridiculously healthy, no afflictions ever, very athletic and strong.
- 3 years ago Jun 2015 (50): First fall...I tripped on my toe when racing my nieces and nephews.
-2 1/2 years ago Dec 2015: Could still hike and scuba dive, but ditched the high heels because I started losing my balance and walking oddly. Noticed my toes seemed to keep catching and tripping me, and it seemed like the timing was off on my right leg. Told my doc, she sent me for a brain MRI which came back normal. At the same time, I had elevated CA125 (an antibody that could indicate ovarian cancer) and had a full hysterectomy. Biopsies came back normal. (Maybe not relevant, but autoimmune so who knows.)
-2 years ago Jun 2016: Had to limit the difficulty of hikes, couldn't climb well. Seemed like I walked like Frankenstein when cold. Started to fall more often. Doc referred me to muscoskeletal who identified spasticity and referred me to neuro. Spine MRI came back normal. (No MS.) Tests for all sorts of vitamin, toxic mineral, blood, etc ad nauseum came back normal, eliminating a whole slew of ailments. Neurologist tells me I have hyperreflexia, upward flexing toes, and spasticity in all of my limbs, worst on the right side, especially right leg.
1 1/2 years ago Dec 2016: My right hand begins to respond slowly and can’t do the fingers flicking thing very well. My left leg now behaves kind of like my right one; both seem hard to move correctly and draggy, like the timing is off. EMG test (teeny needles poked in your legs to test the electric signals) came back normal, which eliminates more diseases. I’m in physical therapy now. I start taking baclofen. Not sure if it helps or not, but doesn’t seem to hurt.
1 year ago Jun 2017: Walking with a hiking pole (too vain for a cane) to avoid falls, which happen about once a week now. Both of my hands move kind of funny now, and my fingers rest oddly (second finger bends down, 3rd and 4th rest right next to or on top of each other) although this doesn’t affect normal activities. Sometimes I get surprising urgency to go, and occasionally can’t quite get there in time and have accidents. (I manage this better now just by ensuring I go often.) Another autoimmune thing surfaces, elevated “VGKC” (Voltage Gated Potassium Channel), and because of the autoimmune stuff I go in for IVIG (plasma transfusions via IV; you get them for 4 hours for 4 consecutive days) which in some rare cases fix symptoms like mine. Sadly, no effect. Another neurologist (I have 3 now, working together, that specialize in different areas) starts me on a series of drug trials, none of which seem to have any positive effect, although some seem to make me groggy or irritable, and I quit them all after a short time, except baclofen. Initial panels of genetic tests come back negative.
6 mos ago Dec 2017: Still falling about once a week. Went to two walking poles after a really scary one that whacked my head pretty good, and although it didn’t do damage (superficial) it bled like hell and really scared me. (The worst falls are the “backwards” falls because you can’t protect your head.) I have a serious “shuffle step” going on now. I have always had “restless leg syndrome” in that I get a little leg jerk when I’m really sleepy, but now I get that jerk even when not sleepy, and it seems to pull my whole body, and makes me gasp when it happens sort of like when you get a random shiver, but much stronger. Another autoimmune thing, this time the thyroid antibodies. Thyroid issues are pretty common, but because random antibodies seems to be a thing with me now, got the full body PET CT Scan with an oncololgist and came back clean for cancer. The endocrinologist has me on meds to fire my renegade thyroid. Choked up and lost it when I finally asked the doc for a handicapped parking tag. Gave in to a wheelchair in the airport, it’s just too big and too hard.
Now: A walker. Which contrary to what one might think is actually quite empowering because it improves self sufficiency, I should have gone to it earlier. Not only do I not fall (hallelujia!) but I’m not clinging to walls when I use it, and I can carry stuff on it, which is AWESOME…it’s very liberating. (Funny how we adapt to the “new normals”, right?) Also, I have started to develop cramps more often, something I rarely had before, in my shins and the top of my forearms. (Previously everything was painless.) I have trouble lifting things and lateral movement with my right arm, but not sure if that’s due to my disease or the last vestiges of a torn rotator cuff from a fall a few months ago. And my whole body jerks, although still not often, seem more severe. Also I wake up every hour (weirdly like “on the hour”) almost every night now, so am going to a pulmonologist next week to see if everything’s still cool with my breathing. I can still drive. And I work. And I’m still doing a lot of things, just learning how to do them differently. Walking’s pretty hard now, though, and exhausting. My symptoms ebb and flow (good days and bad days) with a downward trend, but always seem worse if I’m tired or cold.
I don’t have a diagnosis yet for PLS, but my differential diagnosis is now down to either that or HPS. My primary neurologist believes it is PLS, but I think we need to do one last genetic test to confirm which it is. He noted that I don’t have a raspy voice and my face and tongue are ok, but other than that, all roads point to PLS. My mother’s first cousin had ALS and died two years after diagnosis. My mother’s brother has MS, but is doing just fine in his 70s. I am a gulf war vet who served 5 deployments, and we are 2X as likely to develop ALS, which in my thinking probably is true with PLS also, there just aren’t enough cases to say. I’m reluctant to do the genetic test because I’ve decided to file for disability with the VA and don’t know if the diagnosis would screw up my chances.
Very long winded answer to your post when I could have stopped at the first sentence, ha ha! I guess it’s the first time I’ve written down my symptoms like this. Anyhow, tells you what my symptoms were and weren’t, if helpful.