How do you balance being mindful of possible onset and keeping anxiety in check?

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OregonRNDad

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My question is to those familial ALS members both diagnosed and undiagnosed on how you keep an eye out for symptoms, but keep anxiety in check?

My mother was diagnosed in March 2015 and thankfully has been progressing slowly. Her mother lived for 13 years from diagnosis. Other family members in our line (particularly the men) have had a much more typical length of life from diagnosis (2-5 years). In 2016 the local ALS clinic assisted my mother in testing for known gene markers (an expensive and appreciated gift at the time). She was tested for SOD1, FIG4, OPTN, VCP, UBQLN2, FUS, TARDBP, ANG, and C9orf72 which were all unfortunately negative. We have just recently found Invitae and I have paid to have a more comprehensive genetic panel performed on my mother. At the time of writing this post we are still awaiting results and pray we get a positive result so that other family members have something to test for, if they wish.

This disease is nothing new to our family. I think we have been able to decently keep anxiety in check. Not attributing every muscle cramp or spasm to the disease. But there is a natural fear that one of us may lose that flip of a coin, 50/50 chance of getting the disease. So here it is. This year I have been having pretty consistent cramps, spasms, and fasciculations. They are all over and have not seemed to correspond to any clinical weakness, so I have ignored them. I have noted that normal activities like mowing and trimming the lawn results in horrible hand and leg cramps all night. If I work overtime or walk a lot during a day out with the family, I get very fatigued and develop a limp. Most of this I have noted, but not given a lot of credit to because there has not been a marked progression. This brings us to a month ago. My wife and I decided that we would get away for a combined birthday gift to each other. I worked a bunch of overtime to get the funds together and along came the associated fatigue and even limp, but I have not recovered. Getting up from a seated position is very difficult, I limp constantly, have noted mild difficulty "pinching" between my right thumb and anything (turning the ignition key, opening a soda, or holding a plate with my thumb over the edge) and noted when messing around that I could not skip because of weakness in my right foot/ankle. That caught me off guard and I started self-testing. I cannot walk on my tiptoes or heels because of my right leg. I cannot lay in bed and lift my right leg straight up more than an inch or two off the bed before it just falls back to the bed. I have noted I can climb stairs, but with difficulty and feel wiped out and even more difficult is walking up a slope. My right toes catch, and it is very difficult.

I don't want to go running for testing due to my anxiety, but I also would want to know if I have developed ALS. How do you determine at what point you begin checking things out vs seeing if symptoms resolve? The more anxious I am about these findings, of course the more sensitive I am to every little period of fatigue, spasm, cough, choke, cramp, etc. I would appreciate knowing how you and your families have dealt with this.

My current plan is to wait for the genetic testing of my mother to come back. If she is positive for anything, I too will be tested. If she is positive and I am negative, great I will be much more tolerant of the need to see my doctor. If we are both positive then I will see my doctor right away. If she comes back negative, I am still in the same boat. I guess I would go ahead and be seen, but I still haven't decided. When this horrible disease is a big part of your family history you develop a certain level of acceptance, but the not knowing seems to be an additional torture.

Anyway, thank you all for listening to me and offering up any advice or experiences you might have.
 

Nikki J

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Being from a clear FALS family with no identifiable gene is awful. That was my family until 2012. My sister was diagnosed just as the test for c9 came about. So I have been there. It is better if you have an identified gene. You can decide about testing and you can have hope someone is working on your mutation. That said the advances in SALS treatments will probably help your family.

How to deal is very individual. If your mother is currently affected chances are you are not and sympathy symptoms are common even in non blood relatives. However since you have bothersome and somewhat disabling symptoms you need to go to a doctor. I would say this even if you were not FALS. Whatever this is you need to know and get treatment
 

OregonRNDad

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That is great insight. Thank you. I have read so many threads on here where people are pushing and pushing with a "are you sure this isn't ALS?" kind of mentality when it is so very clear it is not. I want so desperately not to be that way or even come across that way. I am grateful for the health I have and do enjoy. That being said, knowing you have a 50/50 chance of having inherited it, but not being able to know for sure if you have, can set up a stressful scenario. You go through all those typical thoughts of, "oh crap, no...no I am just tired or maybe I twisted my ankle and didn't know it, or I am getting older, or I just need to lose weight" but it lingers in the back of your mind.
Mom has been diagnosed 7.5 years now. She had been my grandmothers primary care giver as I grew up (again my grandmother lived 13 years from diagnosis). And always was pretty anxious about it, which i now understand much better. It got so bad for my mom that sometimes we wondered if she WANTED to be sick. And then it caused some speculation and doubt in the family when she did develop symptoms and end up diagnosed. A little bit of "The Boy Who Cried Wolf" type of situation. Which i have always wanted to avoid. Anyway, I hope the genetic testing gives our family some answers.

I know that my posts have been lengthy, but it kind of helps to vent these thoughts and feelings to someone other than my wife and especially to those I know are most apt to understand. Thank you.
 

Nikki J

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You are in a different situation than the vast majority of the worried well. Go get seen. present your symptoms in an organized manner. Don’t ask is it als but do share the family history. There are support places for FALS. There is a FALS facebook group and although more people know their family mutation now there are people like you who don’t. IAMALS has a monthly support group meeting on zoom for FALS. I have never attended but it is the last Thursday of the month usually though I think this month will be different because of the holiday. It does help to connect with others I think. Being FALS is hard for others to understand.

assuming you get cleared you might look into the dials study ( aka preventals) if you are at least 40 They study asymptomatic first degree relatives and unlike miami prefals accept people with an unknown family mutation if they have a clear family history
 

OregonRNDad

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Again Nikki, great insight.

My Mother's testing just came back. Showed C9orf72 repeats detected within normal range. And of greater interest, KIF5A c.3020G>T (p. Arg1007Met). I am still looking into this. It is listed as a Variance of Uncertain Significance (VUS). But what i have been able to read thus far, it fits my family circumstances well. I was wondering if there are any families on here with experience with this variant?
 

Nikki J

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so c9 was negative? Everyone has at least a couple of repeats. I believe your mother’s kifa5a variant is considered likely pathogenic but check with a geneticist. Strongly suggest joined the fb group. There aren’t a lot of fals here and even fewer asymptomatic family members and kifa5a is fairly rare. I know there used to be someone with it in the fb group plus I remember posting a link to a presentation by Dr Brown where he talked about it and about c9. If you searched you could probably find it
 

duster

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Oregon -- you pulled me out of lurking. Similarly, family history of ALS on father's side going back to great-grandfather, some folks go within a couple years and others have slower progression.

To your point there's a fine line between body awareness and hypervigilance. I don't see as you mention your age, but many of those symptoms can result from exertion. For what it's worth, at the age of 63, keeping the yard up (we have about an acre that I walk) does take it out of me, and recovery is always longer with age. Still, I concur with Nikki in that seeing your physician would be best -- he or she might be able to address some concerns succinctly, hopefully without additional studies. The symptoms you mention are of clearly concerning to the point you can't put them out of your mind, so it is time to engage the healthcare system a bit...

There is an emerging body of work on 'watchful waiting' with cancer and some other diseases, and the toll it takes on the patient's mental status. You would do well to take whatever path needs be to get this concern from top of mind to back of mind.
 
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