Mystery Disease

[JSB]

Hello!I have been ill for over 2 years. No Doctor can figure it out. I am not sure if ALS could be involved. I had an iron infusion/possibly covid 2 years ago and had a reaction reaction 5 days later and have not been the same.

I have a ton of symptoms. I have trouble walking because of weak pelvis and weak shoulders, huge upper arms and legs that are weak, but feel like cement at the same time. Head feels like a bobble head, trouble swallowing, slow chewing and eating. Dry eyes that are squinty and painful and can't be in the sun. Loss of strength and sensation in the trunk of my body, muscle twitching all over. It just feels like everything is in slow motion.

At the very beginning of this I could not swallow at all until my primary thought to give me steroids which gave me the ability to eat again.I can still walk, but it does not even feel human because I don't have the strength in the trunk of my body and I have an extremely weak diaphram/sternum. My diaphram/sternum is not pushing my belly down like it should. The only thing I can compare my walking to is marshmallow state puffman.

I have been to so many specialists,but no one really knows. One neurologist thinks I have a metabolic muscular disease. I had an infectious disease dr. test for Myasthenia Gravis and a specific antibody for that test came back borderline, but the doctor told me that labcorp did more testing and said it was nothing. They have found a few things with my spine and neck, but nothing major. High epstein barr titers at the beginning of all of this, high ALT, low carbon dioxide in blood, low deha sulfate, slightly high TSH and my glucose is sometimes a little high.

I took two separate tests for long covid and they both came back negative. I had to get an iron infusion for years of long periods and the doctor did a single one time infusion. I was extremely tired before all of this came on, but I still exercised all of the time. My reaction came on a day after walking on the bike trail and it was hot that day. I have only had thyroid disease and only take synthroid. I dont take any other medication.

Any help would be appreciated. Thanks!

 

[lgelb]

My thought is, I'd make sure you were imaged/had labs to rule out sarcoidosis. There are certainly other differentials, but that one comes to mind. I would be working with an internist comfortable with complex diagnostic processes. Often, but not always, these are at academic medical centers such as Johns Hopkins or U Maryland in Baltimore.

Fortunately, you have described nothing related to ALS.

 

[JSB]

Thankyou so much for taking the time to reply to me.I appreciate it.I was looking at sarcoidosis as one of the possible causes when I was trying to do my own research.I did forget to mention that my speech can get really slow at times and I have lost the strength in my facial muscles to smile,laugh,etc.It physically hurts to do any of these things because of the loss of strength in the face and diaphram/sternum.It is very odd.

 

[Nikki J]

If you have truly exhausted all the resources of academic medical centers you might look into the NIH undiagnosed program.

 

[JSB]

Thankyou so much for taking the time to respond.I appreciate it.NIH will be my next stop if I can get in.I just got my Genetic Testing Back and it showed what could be a possibility of some muscular dydstrophies including limb girdle muscular dystrophy.I am going to have my specialists look into that more too.Thanks Again!