Symtoms and family history

[LaurenMackenzie]

Hi, everyone. Thank you for taking the time to read my post. I apologize, it is very long. I have a referral to a neurologist but i am very scared. I have been experiencing a strange sort of dullness/ weakness in my right thumb for at least a month now and I feel like it's progressing to my pointer finger. My right hand is dominant but yet my thumb is skinner on this hand. I also see muscle wasting in the " split hand form. My nurse didn't see that , but she saw a more prominent thumb bone on the left thumb, but a skinner less muscular thumb just behind the knuckle on the right. I notice the weakness/ weird dullness the most when holding a cup. I have an extremely strong family history of ALS. I have lost my maternal grandfather, many of his brothers, and his brother lost about half of is 9 or 10 kids to ALS so far. ( so my grandfather several great uncles and several cousins) the strange thing about my family history is that all the people in my family diagnosed so far have been men. If I have it, I'd be the first female. Would it be unusual that my grandfather had it but none of his children did yet for one of his grandchildren ( me) to get it? The only thing I can think of is that my only uncle died in his 50s and my mom at 64 so maybe they were too young to have developed it? ( I'm glad so far non of my grandfather's kids have seemed to have gotten it my aunts range in age from early 60s to early 70s and again my mom died at 64 from COPD). I am also heterozygous for a bunch of risk snps and maybe homozygous for one. I havent checked them all. I hope that I haven't started to ramble. I guess what I'm asking is , do I have reason to already believe my life is over? I had type 1 diabetes for 18 years and just had a kidney pancreas transplant. I thought I had a second chance at life and now I'm convinced that I'm dying again. Thanks for reading , I'm sure this gets tiring after a while. I really appreciate you all.

 

[Nikki J]

Well first as you know if whatever mutation the family has your mother did not inherit then you can’t either. So the closest person is two steps away. There isn’t a mutation that I know of that only affects men so unfortunately your sex doesn’t protect you.

I saw your reddit post before it was removed. 23and me is not reliable. Ignore it.

If you want genetic testing it should be real ALS testing with genetic counseling. Your neurologist can order it

To decide you are dying is very premature. Even if you are a genetic carrier you are not immune to the many more common issue that can cause thumb weakness You have not even seen a neurologist yet

 

[LaurenMackenzie]

Hi, Nikki . Thank you so much for your reply. I really tired to temper this post compared to my reddit post. I can see how that wouldn't be welcomed here. Since my Mom died at 64 ( and didn't have ALS symptoms that I know of) I'll never know if she was a carrier. She did have falls/ slurred speech and some other issues at times, but she was also heavily medicated, on oxygen etc, for COPD and congestive heart failure. One of my aunts has MS. My uncle died kind of young around 50. I guess I can still be tested for the common mutations. I know ALS only has a slight predominance in men up to a certain age and then that disappears. That's why I find my family history so strange. I ache for my family members who have gotten this disease and I don't want ro become the first woman in the family to have it. I really hope there is another explanation for my thumb/ pointer finger weakness, because everything I read about it combined with thw muscle loss , says it's very specific to ALS. Thank you again for your reply. I really, really do appreciate it. I can update after my neurology appt/ testing if that's okay?

 

[Nikki J]

Please do let us know. Will hope for good news.