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whoviantrekwarsgirl

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Let me start by saying I really hope you all tell me it's all in my head. I've read the sticky thread but I'm still unsure, so please bear with me while I ask for experienced opinions.

A little background.

A couple years before I was born (I'm 34 now), my paternal Grandmother and uncle (her son) both passed away from ALS. He was 25 when diagnosed and died at 26. She was in her late 40's and survived 4 years after diagnosis (so I'm told). Fast forward 21 years and my father was diagnosed at 46, and passed 8 months later at 47. Due to family history, he had genetic testing and was confirmed to have the SOD1 mutation.

I've had the possibility stuck in the back of my mind for 12 years, and always got scared any time I tripped or twitched, but was usually able to brush it off as the symptoms never lasted.

This time is different. My symptoms aren't going away. If not for the family history of the disease I probably wouldn't even think twice about it, and after reading several threads I'm still not entirely convinced. However, I'm absolutely petrified to go to the Dr at this point, so I thought I would ask you lovely, brave, amazing people for your opinions on my current symptoms.

A few months ago I noticed my thumb twitching rather severely. I brushed it off as it came and went. I started having more frequent muscle twitching in my arms and stomach shortly afterward. A couple of months ago I started to feel like my arms are constantly trembling, like I'm shaking from inside. This has now moved to my hands and I have a slight visible constant shaking in my hands now, but mostly only noticible when I'm holding my phone/tablet/book/etc. In the last couple of weeks, I've noted that my hands start to cramp up if holding something for more than a couple minutes, and my upper arms would feel very fatigued and start to ache, but the pain/cramping would diminish when I set the object down. However, in the last couple of days the cramping and fatigue is nearly constant and I find it difficult to fully open my hand for more than a few seconds before having to let it relax and fingers curl up slightly. Now I'm getting some twitching and cramping in my legs, and light cramping and numbness (well, not numb so much as no feeling at all) in my left foot. Add to all of this stomach problems I've been having for several months, where I feel nauseated almost every night (among other things), which is getting worse. Dr Google suggests my stomach symptoms to possibly be gastroparesis (weak stomach), but I'll take that with a grain of salt. I'm physically exhausted all of the time and feel like I'm getting out of breath doing things that never used to phase me. I struggle to pull myself off the sofa after sitting a while and in the morning I'm so stiff and achy it's slow going getting out of bed. Ive struggled to sleep the last few nights because of the cramping, twitching and aching. Something's wrong. I don't think I explained everything well enough, anyway. It's very hard to describe exactly what I'm experiencing.

I watched my father quickly deteriorate, but I was still quite young and couldn't handle watching him die, so I don't really know what exactly he felt as the disease progressed. He didn't talk and I didn't ask. I only know what I saw. He never completely lost the ability to speak, walk or use his hands before he died from respiratory failure, but his hands trembled badly and he had to use a walker. He whispered in the end but only because he could barely breathe. My regrettable ignorance is part of what has me confused over my own symptoms.

Thanks for your time. <3
 
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Atsugi

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I don't sugar coat anything.

With your family history, you're worried. And you know it. So does your body. All those twitches, stomach problems, and even exhaustion are NOT ALS, but I'm betting they are stress, plain and simple. The subconscious mind controls the body, and when it's worried, it can make our bodies hurt physically.

You never mentioned any symptoms of ALS. Sometimes there is cramping in the onset of ALS, but cramping can be many things--often stress.

See your family doc, an MD, and tell her everything. Get this fixed. When your inner fears and anxieties take over, they can destroy your relationships, your job, and your self-esteem. That's no way to live.

I can't say you have nothing to worry about, but it's not happening today, Whovian.
 

whoviantrekwarsgirl

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Thank you. I much prefer it when people don't beat around the bush. <3
 

KimT

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OK, you are from a FALS family. A lot of your symptoms don't sound like ALS. But hearing it from us is not going to make it true or false.

All I can tell you is what I would do. I'd get tested. I'm the type of person who needs to know, one way or another. You might not even have the SOD1 mutation so your worries would be over for good. Even if you have it, you still might not currently have ALS.

I agree with Mike that our bodies can do just about anything. Last year I was totally convinced that ALS was affecting my swallowing. I was choking and my pills wouldn't go down. I went back to Mayo and insisted they do another swallow test. It was the same as two years before. So even with ALS, my mind can give me symptoms that just aren't caused by the disease.
 

Nikki J

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I agree that your symptoms are non specific but given family history it is important to be seen.

SOD1 has multiple variants and can present in different ways. SOD1 carriers can also twitch for years before anything else happens according to my neurologist.

I agree you should consider very strongly genetic testing which means getting genetic counseling from someone who specializes in MND counseling. You then have to wait a month to have the test per UK rules.

Aside from the knowing your status issue there is now hope for SOD1 carriers. A gene blocking trial for SOD1 PALS is underway right now. When they get it right there is a good chance they will try it in carriers before they get symptoms

Good luck. Let us know what happens
 

whoviantrekwarsgirl

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Wow, I didn't know about the gene blocking trial. I feel like I've not heard much about research and trials since I relocated to the UK (I'm originally from Massachusetts).

Thanks for the info. I am contemplating asking my GP about a referral for genetic testing. Just have to get the courage.
 

Nikki J

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Look up antisense therapy. Also Biogen whose trial it is. There is or soon will be at least one UK site for SOD1 ALS
 
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