I was reassured until i spoke to Genetic Counselor

[hollingusa]

My parents are fine. Ugh. This is so upsetting after having put this to rest

 

[Nikki J]

Carrying a mutation does not diagnose you. Your emg and your exam are still normal. One of your parents is almost certainly a carrier and they are fine. Talk to an als genetic counselor. Absolute worst case you develop very late onset ALS 4 and get to live a normal lifespan without bulbar or respiratory involvement but you are not there yet

 

[hollingusa]

Today she replied "I didn't want to let another minute pass without reassuring you that while the gene is associated with all sort of alarming things your specific genetic variant is not the right sort to cause those things. It's confusing and I promise to explain it in detail, but I am not worried for you with this result."

So I do feel better. Thanks again Nikki

 

[Nikki J]

Ah I thought there were different variants with different associations. It happens with other fals mutations. For example sod1 which in the most common variant causes very aggressive ALS. Among the hundreds of variants some cause less aggressive als and others are just benign. It sounds like you have the equivalent benign variant. Genetic testing can be very helpful but it needs to be done and interpreted with caution

 

[hollingusa]

Hi. So sorry to buy you folks again. Nothing has gotten better for me with PT and chiro, but I also have no failure and although I know my affected limbs are weaker, they arent clinically weak.

Anyways; on reddit which I need to stay off of, someone who claims to be diagnosed with als has said that atrophy will come before weakness in most cases and that you can have atrophy precede weakness for even 2 Yeats and still have a clean emg. The clean emgs are what have given me hope so this is concerning to me. I will say that this member had been called our as a "troll" by many but it's still too late for my anxiety. Is there truth to what he's said? I though the weakness comes from thr disconnect to the muscle and then due to that, it will atrophy. Thanks for insight

 

[Nikki J]

No. That person has had multiple profiles and is indeed a troll. Don’t believe anything they say. It is nonsense. What you thought is correct. And once a muscle is atrophied from ALS the emg will be florid

Reddit is dangerous Honestly most of the internet is. Trust your doctors. Real people who actually went to medical school and di residencies and often fellowships in their specialties. A significant number of people with ALS are dead in 2 years Most are significantly impaired. This forum has some ultraslow progression examples but even we had abnormal emgs from the start

 

[hollingusa]

Thanks Nikki. Obv you can tell I do have a great deal.of anxiety and even this troll can get me going