Fiance with fear of ALS

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Meissama

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My fiance lost her father to als 10yrs ago. And it is believed his father passed away as well from the same disease.

She is only 31 and to my eye shows zero symptoms of ALS. She has refused to get genetic due to a fear of a positive result which she figures is her immediate death sentence. I am hoping to lay down the info I have and if anyone could confirm or raise alarms that would be great.

She is 31, over weight but all blood work and such show healthy otherwise. (No emg done though would like to set one up but given current situation, not sure about approval). She has complained of twitching. Sporadic quick twinges. Lasting a few seconds. Calves, knees, back/shoulder region. Doesn't seem to happen when she is in motion just relaxing. As far as I'm aware fascinations are long term fine twitches that last long periods of time that correspond with or are post muscle atrophy/ withering which i see no signs of. No signs of weakness cept for occasional knew give out. Not dropping just, no slurring, otherwise normal motor function. She has 1 older sister who is in her later 30s with no issues.

Her fear stems from her father. He passed away when he was 49 (diag at 48). He was a military veteran who was an accountant for a bus company post military career. He was in 1st Persian gulf war. His father also died of ALS while serving a prison sentence in 1989 in his early 50s. Her father has 3 siblings all still living with no signs of ALS. No other signs of long term FALS. Still awaiting info from UPenn about the specific details of his disease. Hoping for info on which gene.

She has a habit of simply accepting only that she has it. And constantly second guesses everything. Hopefully her seeing other peoples opinions on the matter may help.

Thank you,
James
 

Nikki J

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Hi. I am sorry your fiancee has such fear.

if her grandfather did have ALS ( you said believed to have) it is considered possible FALS. Her father would have had about a 1 in 100 chance of getting SALS if his dad had it This is because everyone with ALS probably has a slight ( currently unidentifiable) genetic predisposition that only manifests with a series of also unknown triggers. I would think this is actually a little more likely given her dad was in first Gulf. A lot of issues have come from there.

10 years ago the majority of FALS genes were unknown. Even if there was testing chances are good it sjowed. Othing. Even now around 30 percent of clear FALS ( multi relatives multi generations) has no identifiable mutation

twitching alone means nothing and it is common for family members even of clear SALS to worry. Being 31 with the men being almost 20 years older speaks against her developing ALS soon even if it is FALS and even if she carries a mutation. If her dad had one to give it is only 50 percent possible she got it.

i would suggest seeing an ALS genetic counselor ( Penn would be a good place). An emg is never reassuring to the anxious. Too soon done wrong etc. is what we see after
 

lgelb

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I think you may be closer to RWJ or Columbia as a genetics clinic once you have the Penn info.

Nikki's point about the age difference is key, as well as 50/50 odds that she even has whatever mutation there may be.

When I read about overweight and twitching, I always want to make sure that she has been screened for diabetes and thyroid dysfunction?

And I'm guessing with this constellation of fear (of both knowing and not knowing) that she has other anxiety issues as well. So some no-commitment telemedicine counseling to "clarify how best to decide if/how to follow up" on the whole ALS thing -- people often use short-term counseling to illuminate best practices for making big decisions -- might help also. The convos you two may have had can get circular and sometimes it's good to break up the pattern a little.

Best,
Laurie
 

Nikki J

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I know people who were happy with their Penn counseling. Columbia is good if you actually have FALS now ( which I do not believe is the case). I am less sure about the fit for her. I don’t know anything about RWJ but all genetic counselors are not created equal.
i agree general anxiety counseling should be a first stop though
 
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