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Boumike

New member
Joined
Feb 28, 2019
Messages
3
Reason
Lost a loved one
Country
CA
State
British Columbia
Hello everyone!

This ended up being a very long post so I I'm going to put a tldr at the end for those of you with limited energy.

This is my first post here and as a c9 carrier I will likely be lurking around for a while as it is the most comfort I have found so far. I want to say thank you so much for having this message board and the very detailed posts especially for the DIHALS visitors like myself. As you can tell I've already been lurking for a few days and thankfully have mostly moved into the probably not ALS part of the spectrum, but I do still have some concerns and I'd like to share my story at any rate.

So to start my dad and grandad (paternal) both passed away due to ALS with positive c9orf72 gene results. This motivated me to get myself tested for c9, of which I tested positive with >100 repeats. For those of you (possible lurkers/future readers) reading the c9 mutation is a hexonucletide repeat mutation with subsequent generations extending the number of repeats. There is no correlation between length of the repeat and age of onset although this is hypothesized. What is significant is 20-30 repeats are normal, 30-90 (I think) is intermediate and over 100 is high risk, which I am.

Anyway when I first found out I noticed I produced a lot of saliva. Got pretty convinced that I had ALS until I pieced together that it's also an anxiety symptom and correlates with some pretty bad news. Didn't stop me from waking up in a dinner-plate-sized puddle of drool. I worked through it however, and have not had an issue like that since. I'll call this the first (insert clever name?) sort of incident.

The second was when my dad passed away, my hands were feeling weak and tingly and clunky and I got really scared. And of course I eventually remembered that I had carpal tunnel syndrome and did my stretches and am now fine with no incident since of that sort since. What I'm trying to say is that I am familiar with how easy it is to let anxiety get the better of me and cause 'symptoms'. Also pertinent is I am a 30 year old male that is pretty healthy (I think, more in a bit).

So, assuming that I am not currently presenting symptoms, I am currently in the third (incident? I need a better name as I assume there will be more) but this one is spooking me a bit more I think, which has motivated me to make this post. Either way I think it'll be good for me to make this connections as I have watched two different family members get taken from me so I am quite familiar with the disease.

I'll break down the case for (ALS) and case against in two sections to make it easier to talk about. I'll start with the case for and my fears so as to more easily talk about my own mental countermeasures and the reasons I am particularly spooked.

It started as some minor twitching, a little bit in my left arm and my side while I was traveling in Vancouver (1 hr flight from home). I tried to not think about it much but it got progressively worse (in the span of a out a week) until it began affecting my sleep, my fiance could also feel then as she snuggled. It got so bad it started hurting as the muscles spazed consistently for hours. But it seemed pretty random, left and right biceps/triceps/shoulders and my left and right sides of my torso bending around to my back. There didn't seem to be any discernable pattern.

That was the worst of it however as after reading (mostly on this forum) that fasics, especially random/non localized with no discernable muscle weakness or atrophy strongly points away. They have mostly gotten better although they have not passed completely. I am more concerned that what I have been experiencing I'd spasticity and here I must concede ignorance and the main motivator for my post. I can not find evidence that spasticity can be caused by anything other then nerve damage, although muscle tension and cramping is a known anxiety symptom and I am unsure what the difference is if I am experiencing them.

What I feel is pretty severe tightness in the places I'm twitching, to the point of hurting. I've had muscle cramps before but this almost gets to the point a being sharp throbbing pain, as I currently feel in my back and shoulders. This does not affect my range of movement by any discernable amount and stretching seems to offer a modicum of relief as does a warm bath.

The other thing that's been concerning me is i've suddenly started to snore. I've never been a snorer before but last night it was sufficient to wake my fiance up and she's never heard me snore like that, it's literally never come up, not once. It is possible that I'm sleeping on my back more since the muscle twitching started but I do believe I was on my side last night.

Anyway my dad started with bulbar onset with the 'drunken voice' the Read This sticky outlines and that is what eventually got him diagnosed. I am concerned I may have lost muscle mass in the back of my throat and this somehow might be related to the twitching/stiffness/cramping.

I think I'm further concerned as my dad and mom just thought he had a cold that wasn't going away as he started just being raspy, I don't think the slurred speech started until later. I feel like I may be experiencing something simiar as I've had a cold for a while now, although it seemed to have gone away. Just the two together I guess is worrying me.

Anyway, as I've said Im increasingly starting to feel that it's just another round of anxiety, although I can't deny the ominous feeling I get as I type this out. Anyway the big thing is all of this coincides with a major stressor. See I participate in an series of FTD research studies out of the Djavad Mowafaghian Centre for Brain Health at UBC. I have recently concluded my second visit, but the thing is it's my first visit since my dad passed away. I did find myself thinking about it a lot as I did have an uptick of twitching as we were leaving up to the trip. A lot of difficult questions are asked and it's also how I got my gene results in the first place.

Thing is part of the testing is a full work up by a neurologist who, as far as I know, found zero muscle weakness or atrophy as well as zero uptick in reflex response. This was only last week. The twitching seemed to subside during the examination interestingly. Since then I've also noticed no degredation of fine motor control outside of the stiffness from my muscle issues. I also have a tap test app on my phone and my tap speed has been consistent with the past year and a bit with zero loss of speed. Admittedly I don't know how reliable an indicator this is but I feel like it's evidence against ALS at any rate. I play video games regularly and paint minis and am also a full time student so any loss of motor control or strength I think I'd notice pretty quick especicially since it's ALWAYS on my mind.

I have a Dr.s appt this Monday and we've talked about getting an EMG before, the last time was with my hands when my dad passed, but we ultimately decided it wasn't needed. At this stage even if I am leaning more to the 'im fine' I think a clean EMG is pretty conclusive and would really help the next time I get spooked. It is a struggle as a c9 carrier.

But it still hurts, my back and shoulders I can feel the muscle pulsating, my side is tender and I had trouble getting to sleep due to the pain. If it does turn out to be nothing I'll go to be psychiatrist and hopefully find a way of dealing with the anxiety symptoms and I'm starting to think that the snoring was just brought on my the flu as I've been feeling really rundown and stuffed up as well as having bouts of nausea and diarreah. It just feels so strange that all my voice and throat symptoms show up during all the twitching.

Perhaps I've just frayed my nerves so much with stress that it's taking a toll. I am a full time physics-student that was working on homework during my trip to Vancouver. Money's tight and was working up to a midterm that I had previously gotten a terrible grade in. Money's also really tight and I have put on alot of weight and a few of these twitches have definitely just been my own heart beat, although not all of them have been. High blood pressure runs in both side of the family and clearly is not helped my the truly monumental amount of stress I've been enduring the past few weeks. It was also the one thing my neurologist did say he found.

Anyway that's my plan, get an EMG, assuming it shows nothing try and find better strategies for combating anxiety. In the mean time I'm going to try a light work out with stretching and see how my body feels after. I am definitely the most sedentary I've ever been so maybe that's a contriubutor.

I also forgot to mention that activity seems to agitate the twitching/tightness. I did 5 (very shaky) pushups while typing to more or less see if I could and it definitely seemed to spur them onwards.

I realize this is an exceedingly long post so I'll do a quick tldr for those of you with limited energy. I tried to make this concise but it is a lot for me so I hope it's not too sloppy.

Tldr: c9 carrier exception g spontaneous sporadic muscle twitching, stiffness and pain. History of a anxiety about positive test results as have lost both my dad and grandpa to ALS. Concerned that I'm exhibiting spasticity but could be anxiety related muscle tension, unsure as to the difference. No loss of dexterity, strength of fine motor skills as confirmed by a neurologist last week. No EMG yet but endeavouring to procure one. Been having trouble clearing phlem and started snoring while I slept for the first time ever. Related to high blood pressure/weight gain perhaps? Full time recently engaged student, money's tight, school is stressful, as is wondering if I'll live to see my wedding, so anxiety makes sense.

Well that about wraps it up. I want to thank you all so much for this community. It's the one of the few places I've found that I really feel like people understand. I think I'll be around even if I turn out to be fine and especially so if I don't. I also want to thank you for taking the time read what I've had to say. I eagerly await any insight/opinions you guys have.

P.S forgot to mention, grandpa was diagnosed at 62, dad diagnosed at 49, I'm currently 30. All c9 carriers.
 
Last edited by a moderator:

lgelb

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Lost a loved one
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Very sorry to hear about your family's losses to FALS. Of course, you will hear from those who know more about FALS, but I think your insight that anxiety, stress, BP, cold/flu, weight could underlie your current issues is very likely true.

Apart from ALS, you sound like a recipe for early stroke, so I hope you and your PCP are treating your high BP and working on weight loss with a healthy diet and movement. Neither of these entails a lot of cash (ask for a generic antihypertensive), but could prevent years of disability. You might also want to Google Epworth score and see if you are at risk for sleep apnea.

Best,
Laurie
 

Nikki J

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Joined
Mar 22, 2012
Messages
7,364
Reason
PALS
Diagnosis
04/2014
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US
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MA
Hi
Sorry about your family. I am c9 too.

You are extremely young for a c9 presentation. The researchers usually say not before 35. Late 50s is more common but of course there are people younger than 50s. Both our families have examples

It doesn’t sound like ALS and you recently had a normal neuro exam ( thank you for participating in research)


Living as a gene carrier can be challenging. You need to find a way so that c9 does not steal your life away prematurely. You can also live in hope as research into c9 has exploded. The first gene blocking trial has started, other therspies are in the pipeline and once something works they are going to try to have a prevention trial for carriers. My doctor is extremely optimistic for my asymptomatic family members

Don’t smoke! Smoking has been associated with ALS. I also heard a preliminary report from a study of c9 carriers that one hour or more of VIGOROUS physical exercise DAILY was associated with earlier onset. This is specific to c9 carriers and one hour was the tipping point. This doesn’t mean no exercise. As far as I know this isn’t published. My source is a presentation at the MNDA symposium in Glasgow by Professor Pamela Shaw. Should you require medication for blood pressure you might ask if lisinopril would be appropriate. In population studies it was associated with lower incidence of ALS.
 

Boumike

New member
Joined
Feb 28, 2019
Messages
3
Reason
Lost a loved one
Country
CA
State
British Columbia
Thank you Laurie for the sleep score suggestion as I was concerned about that. I scored well within normal so no fear there!

And Nikki thank you for your reply, this is my first interaction with another known c9 carrier. I'm grateful you're as knowledgeable as you are. I am aware of the multitude of treatments in the pipeline and you're right it's extremely optimistic. My fear tends to be that I'll begin presenting before any of them come up.

As an update for myself I did a light work out yesterday for the first time in like 6 months. Maybe 100 or so jumping jacks, 9 pretty shaky pushups, a 30 second plank, 20 crunches and 10 squats. I used to do workouts like this regularly and it felt more or less the same as normal accounting for not having done anything in a while. I slept fairly soundly last night and now that I've noted to myself that my twitching isn't consistent it helps me. When it did start affecting me I was able to just tell myself that they'll go away soon and was able to avoid stressing about them which helped my sleep.

My throat has gotten real sore now and I suspect I have strep throat which my be contriubiting to feeling weak over all. Also I talked to a child hood friend about the snoring and he said it sounded exactly the same as he remembers from high school sleep overs, even stating that I scored maybe 25% of the time. My fiance and I think she just might never have noticed because, well a bomb can go off beside her and she wouldn't notice haha. She was also pretty anxious that night.

Anyway I don't think I'll be comingletly convinced until I get an EMG however your information about age demographics was reassuring Nikki. Thank you

-Mike
 

Nikki J

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Joined
Mar 22, 2012
Messages
7,364
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PALS
Diagnosis
04/2014
Country
US
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MA
I sent you a link to the FALS Facebook group. There are a lot of c9 people there

If an emg will really reassure you great. The c9 status will always be there though so you need to find a way to live in hope not fear. I know people who are miserable because of every twitch. Don’t let it happen to you
 

Boumike

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Joined
Feb 28, 2019
Messages
3
Reason
Lost a loved one
Country
CA
State
British Columbia
Hey all, I ended up forgetting to do a follow up post as my Dr. Appt ended up going well enough that it alleviated my fears. Thanks for the tip on hypertension, what ended up happening is my percieved twitches were actually me feeling my own pulse in some strange spots due to high blood pressure. Anxiety exacerbated the problem and did give me some anxiety twitches there were real but not consistent. They almost entirely went away aside from the occasionally eye twitch. He did send me for an EKG and some blood work because of my high cholesterol and high blood pressure, but I haven't heard back about anything so that's good! I'm in the process of losing some weight by eating alot more greens and I've gone down a few belt sizes as an added bonus.

Unfortunately the reason I decided to post this at 4 am is I feel like breathing has been slightly more challenging lately, which is odd. I'm not out of breath but air feels... thicker somehow. Like that feeling when you're in a sauna and you have to put that little bit more effort into breathing. Sometimes I don't notice which leads me to think it's just another nerves thing, I am getting into finals and air quality has been really bad due to all the he snow having just melted. My city is notorious for bad air quality on a good day anyway. I actually woke myself up cause I made a weird noise, not a snore but like a squeak? I can't quite describe it. Anyway I know I don't have sleep apnea is I'm not fatigued or tired really. The strangest thing is I don't get winded doing normal activities. I'm just laying there and I think about it and it's hard or something.

I took some melatonin to help me sleep tonight and it's kicking in so I need to wrap this up before it becomes nonsensical. Basically I've never heard of someone presenting respiratory symptoms first but I wanted your guys' opinion. You had some fantastic advice for me last time (even though I still haven't signed up for the Facebook group Nikki, not an avid Facebook user and keep forgetting too) so figured I'd give you an update and express my concerns at the same time. Honestly any insight/advice would be most appreciated. As always thank you so much for your time.


-Mike
 

Nikki J

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Joined
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Messages
7,364
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PALS
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Respiratory onset is exceedingly rare and I ave never met a c9 person with it. It also does not sound like it anyway

I suspect anxiety and again encourage you to seek some support possibly counseling to deal with your c9 status

My other thought if you started on blood pressure meds is a side effect

Good luck
 

KimT

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Extremely helpful member
Joined
Nov 18, 2014
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3,240
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PALS
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08/2015
Country
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South
I'm glad you got good results.

I think it's time to focus on your general health. It might be a good idea to get a sleep study, continue to monitor and treat your BP, and do some walking to lose weight. Walking and swimming are both good choices for general health. Doing "shaky" pushups might make your blood pressure spike and really shouldn't be done if you're dealing with carpel tunnel syndrome. I think water exercise and/or walking will help with pain.

As Nikki said, focus on the hope for c9. I really think it will be the first major breakthrough with gene blocking.

Check back if you ever need support or encouragement. I'm so sorry for the loss of your dad and grandfather.
 
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