Something Is Wrong, But I Can't Get Answers.

[b_farm_84]

I’m a 37 year old man. Until a year ago, my health seemed very good.

It started after a bout of heavy yard work. The next day I felt a level of tiredness I’d never felt before. My concern started when it lasted for days. Then other things started to kick in.

A few days later, I started coughing. It wasn’t coming from deep down. Felt like a tickle in my throat that would not go away. Walking up the stairs felt funny…every time I put weight on the front part of my foot, my calves seemed “shaky.” They didn’t hurt. It just felt like I’d done a bout of heavy weightlifting.

About the same time, I started to feel like my shoulders were suffering from heavy workout fatigue 27-7. If I lifted up a heavy pan while cooking, it felt like it was a heavy weight.

Went to the doctor. Blood tests normal. Rheumatological tests normal.

Started to feel what I described as “butterfly flutters” in my eyeball. I thought I had an eye problem, but then they started happening in the most random spots on my body. Sometimes it would be in my shoulder, and sometimes in my quad. Ringing in my ears kicked in as well.. Happens two, three times a week.

My bowels changed. My movements have been borderline runny my whole life, but suddenly, they’re hard as a rock. My diet hasn’t changed….I just keep constipated a lot more.

Back to the doc. Normal tests, except for slightly elevated ANA (1:160). Saw rheumatologists, but inflammation and specific autoantibody panels all came back normal.

Whenever these things flare up badly, I have problems thinking.

Any physical exertion puts me in bed for a day or two. It feels like it just exhausts my resources.

I hope you guys can understand my worries, and maybe provide some feedback. All these normal tests, but I feel as if my body is breaking down. My hands even feel “awkward” when I type.

There's a dull ache at the bottom of my back, and when I clench my buttcheeks, those muscles always seem to have an ache as well.

I cannot get an answer about what is going on with me.

ALS occurred to me after much Googling of my symptoms. I even looked on my 23andMe list for genetic risk factors. One of them .... I can't remember the SNP name, was the ALS risk variant. I believe it doubles ALS risk. It's a C/C, whereas the normal variant is a T/T, or a T/C.

I admit that I'm scared right now after all the negative autoimmune tests.

 

[Nikki J]

It really doesn’t sound like ALS. I would be surprised if it turns out to be neurologic. It sounds systemic. How good is your pcp? It seems like you need a really good internist to narrow things down You didn’t have covid did you? Did they test antibodies?

 

[b_farm_84]

No Covid auto-antibodies. I'm not sure what a pcp test is. I've had a bunch of stuff done, though. Thyroid tests are normal. Creatine Kinease in the middle, which is normal range.

It seems so strange to me, because there's definitely something wrong. My body feels like it's turning against me, here.

Another reason this worries me so much, aside from being a dad to two wonderful girls, is that I have two half siblings that passed younger than me. Mysterious causes too. A 32 year old half-brother who died of a hypertensive cardiovascular event. No one knew anything was wrong with him. Other half-brother died at 27. Just had a long seizure out of the blue in the middle of work, and was gone. No prior indicators. All of us have different fathers.

 

[Bestfriends14]

Hi there,

It sure does not sound like ALS to me, but rather something viral or systemic, as Nikki said. What other medical professionals have you seen? Sometimes, even without a change of diet, lack of exercise and proper hydration (water, not juices) can plug a person up, along with causing great fatigue.

 

[Nikki J]

pcp is primary care provider you need a superb internist maybe a genetic counselor but I do not believe your answer is here

 

[b_farm_84]

I've seen primary care doctors and a rheumatologist. I called an internist based on Nikki J's advice.

I had a positive ANA (1:160), and an ever-so-slightly positive rheumatoid factor (that disappeared the second time I took the test.). Also trigger-finger EVERY SINGLE MORNING. I have to snap my ring finger back in place.

So the rheumo tested me for lupus, rheumatoid arthritis, muscle connective tissue disease, and thyroid. They were all negative.

I showed the rheumo pics my wife had taken of these weird pink rashes I've been getting on my body when my symptoms seem to flare up. Random places, splotchy and pink. He says make an appointment with a neurologist, so that's what I'm gonna do.

You both say it doesn't sound like ALS and I believe you. I've tried REALLY hydrating every day, but it hasn't made a different.

Whatever's wrong with me seems to have this strange crossover between seeming like both autoimmune, but having SOME things in common with ALS, like the muscle weakness and the twitches at random spots on the body.

I'm thinking of asking docs about MS? Regardless, thank you for your quick responses.

 

[KimT]

Did they test you for Lyme disease? That can be done by your primary care through a blood test. I'm sure they did but, if not, they probably should.

It really doesn't sound anything like ALS but I agree you should keep the appointment with the neuro, just to cover other basis. It sounds systemic to me.

 

[lgelb]

There are many variants of autoimmune and connective tissue disorders. Just because you didn't test positive in a couple of ways doesn't mean you don't have one of thousands of possible variants.

 

[b_farm_84]

I've had a few new appointments. I suppose it's my nerves driving me to write more than anything else. However, the news I've received doesn't seem promising. Honest to God, I feel like I need to talk about this or its gonna drive me crazy.

On the advice of a forum member, I saw an internist who sent me to a new rheumatologist.

New rheumo ran tests. About 15 vials of blood in all. That didn't bother me. However, the actual exam was a different story.

She gives me a strength test. Reaches underneath my legs and asks me to pull them back down. I can barely do it. I used to lift weights like crazy...now I can barely get past the resistance of a woman pushing upwards on my ankles.

Then she taps my knees with the reflex hammer. I've never seen my legs jump like that in my life.

Rheumo tells me I have "brisk" reflexes. There's something different about my body that is utterly alien. I don't know what it's doing anymore.

It hit me then. There's something wrong that goes way beyond anxiety or lack of sleep. The way I mix up words. These twitches on the left side on my body. I can see them under my skin. They're more frequent now.

The rubbery feeling in my legs when walking down stairs. It doesn't hurt. It just feels light and slightly shaky.

Mostly it was just the concern I saw in her eyes.

 

[affected]

The great news is it still doesn't sound even remotely like ALS.
Please do come back and let us know the diagnosis, it sounds like doctors are following a diagnostic path which is great, and if you can just calm yourself and work with them, this is really most likely very treatable.
We haven't examined you, so really can't say more than has been said already. All the best, do ask your doctor for help if you can't stay calm enough.