Some Questions From a Newbie

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KateMMA

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Hi everyone!

My diagnosis recently changed from Hirayama's to ALS and I'm going to have a second opinion at the UC Davis ALS clinic in a few weeks and I wanted to know what to expect.

I was seeing a neuromuscular specialist until recently (I moved from California to Hawaii) and now I'm seeing a neurophysiologist. Of course, neither of them diagnosed me in just one visit and it was a series of blood work, MRIs, x-rays, EMGs and nerve conduction studies. So, what should I expect from my second opinion appointment? They'll have my medical record, so will they just look at that and do a clinical assessment or will they do an EMG/nerve conduction study, or something else entirely? Also, is there anything I should ask?

On a separate note, I'm having pain in my calf kind of like when a needle goes in wrong during an EMG. Is that a sign of disease progression, as in muscle wasting, or is it probably just a strain and nothing to do with ALS? I was hoping to be able to avoid walking assistance devices for a bit longer and this is scaring me a little. I've been slow progressing so far, hence the initial misdiagnosis, so I'm hoping it's nothing to worry about and I still have time.

Also, before my diagnosis, I was planning to lose the baby weight (about 20-30 pounds) but after reading on this forum that losing weight can accelerate progression, I'm a little hesitant. I'd rather be chubby and stick around a little bit longer to see my babies grow up if that's what it takes! 😁

Lastly, does anything ever get back to feeling normal again after diagnosis? It's not that I'm crying all the time or depressed or anything but it just feels like "the diagnosis" is just ever present. Not in a way that keeps me from going about my day but everything reminds me about it. I constantly think, "I won't be able to do that someday" or, when my best friend (also in her 30s) said something about saving something for her grandkids in about 25-30 years, all I could think was, "Oh yeah, I'll never get to meet my grandchildren."

It feels like a loss of innocence. I can't just live a normal life anymore; everything is slightly shaded by this disease now. I feel like I can never go back to just living, which is especially sad because I don't know how much life I have left now.

Anyway, thanks for reading if you made it this far! Also, if this is not the right place to post these kinds of questions, please let me know.
 

Nikki J

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As far as what they will do at the second opinion it will depend Of course they should review your records but they should also take their own history and do their own exam. It is not unusual to have them want their own emg but it isn’t a given. If they have any doubt they would but also sometimes they just want one from someone whose work they know well. They may want other tests as well. My sister had three opinions and each added a couple of blood tests.

I don’t think the pain is directly a sign of progression. The only thing might be that you injured it slightly because you are weaker?? Not necessarily but if you think you are weak do not risk a fall. A walker is much more dignified than a fall and falls are dangerous.

my clinic believes in the benefit of a little fluff. Anecdotally in my FALS friends the fluffier PALS are around longer

it does get better. You get a new normal especially with slow progression. It is never the same though. And none of us know how long we are given. I have had a couple of friends who were healthy when I was diagnosed die since of cancer.

have you had genetic testing yet? As a young PALS especially this is something you should get

there is a post in the resource section on second opinions Resource - Second opinions and first clinic visits
 

KateMMA

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Hi Nikki!

Thanks for the info. I'll stay "fluffy" and enjoy my chips and guac guilt free!

They did genetic testing and said I tested negative for any of the known genetic variants. I was relieved because I know it's more common in young PALS and I was worried about passing it on to my boys.

I'm hoping to get back to a new normal soon. I think getting past the second opinion and having a better idea of my prognosis, options, and creating a plan will help. So far I only have symptoms in my hands and can still do almost everything on my own, albeit with difficulty and cramping, so I want to get back to enjoying life. I love life and I'm a very positive person, so I hate to think that's being taken away from me along with the physical aspects.
 

KateMMA

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Nikki,

I just read the thread you linked and, wow, it is amazing! The time and energy you and some of the others on this forum give is incredible and much appreciated!

It reminded me of something when I read the part about asking about other diseases or causes. I was diagnosed with Celiac disease in August 2019 and my symptoms for both it and ALS began in January 2018. I've always thought there must be a connection, as well as a connection to pregnancy because the symptoms for both celiac and ALS started during my first pregnancy, plateaued and then got worse again with my second pregnancy. I mentioned this to my providers and they always said there's no connection.

I learned in the last few weeks on this forum that celiac can mimic ALS and then read some studies on it. I know that I'm grasping for straws, as I'm sure most newly diagnosed PALS are, but do you know of anyone on this forum or in real life who has had these connections? Or anyone who has ultimately found to have celiac mimicking ALS?

I've been gluten free since August 2019 but only two of three of my antibody tests have come down to the normal range. I'm not sure why.

Of course, I'll ask at my second opinion about the possible connections but I hope it's not dismissed as easily as before.
 

Nikki J

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There is a paper you probably read that is a case study of someone whose ALS turned out to be celiac. The only person I know who had an ALS diagnosis and then celiac really had both but he also was SOD1 FALS
 
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