19 year old female with family history of ALS

[lauren74]

Hello, I am a 19 year old college student with a family history of ALS, my paternal grandmother and her nephew (her sisters son) both had ALS, so odds are high it's familial. I always thought this would be something I would have to deal with later in my life, maybe I would get a genetic test before having kids, but have been getting concerning progressive symptoms and would like someones opinion.

This started around September or October with dropping items from my hands. I was dropping multiple things a day like my toothbrush, pills, car keys, and food. By late December, my arms were weak, I was having difficulty holding things up and was dropping things even more (I dropped the church bulletin twice in one service, and a glass tube in my orgo lab which I am super careful about). In January my legs felt weak going up and especially down stairs, my feet "slapped" the ground when I walked loud enough that my family noticed, and my left food was sometimes dragging behind me when walking, especially up stairs or curbs. This is also when the twitching started, it was hardly noticeable at first, but it happened all over my body (except my face/mouth until very recently) and have gotten more intense with time.

Today I am still dealing with all of that, and recently my grip in my hands, mostly my left, has gotten much weaker. If I grip anything even lightly, my hand shakes from fatigue. My left hand has also had muscle loss, the muscle between my first finger and thumb is tiny on my left hand much larger on my right hand. My left arm cannot be held up without shaking and both of my legs shake with I lift them up, and I cannot stand up on my toes, squat, or stand on one leg without falling/being unsteady. I am not sure if I have any issues with my mouth and throat, my mom did ask if I'm having trouble swallowing since I choked on a meal a few times, but I have always been prone to choking so that is probably unrelated. I have noticed that sometimes it feels like my mouth moves too slow when I'm talking, I have been talking extra slowly lately and even despite that a few people have asked me to repeat myself.

I have been to my primary care doctor and got blood tests (CK, thyroid, and electrolytes were all normal) and a referral to a neurologist, which I am currently waiting on (appointment is in mid march). I know 19 is very young for this disease, and I am hopeful that this is being caused by something else. I feel like I should be anxious about this, which of course I am a bit, but mostly I'm sad. I feel terrible that my family could have to go through this, and lose me after we lost our dad a few years ago (not to als). I feel like I was just getting my life together, moving in to university and studying chemistry, and I'm worried it's going to be taken away. I try not to tell my mom about my symptoms since I don't want to give her any more to worry about, but this is hard to keep to myself. If anyone has any input I would really appreciate it, thank you

 

[Nikki J]

Are you on a cancel list for the neurologist? What kind of neurologist is it? A general community one? You are probably someone who should go to an academic als center if you are describing accurately. You need an emg and genetic testing. Your pcp could order both but I get they might not feel comfortable. Can you talk to them and ask them to advocate for you and get you into an als center?

I hope it is something else of course but if it is als there is treatment for the second most common genetic form sod1 which would be most likely for you as the most common doesn’t strike at 19. There is also fus which is found in young onset and has a promising trial
You need to be a squeaky wheel here

 

[lauren74]

The neurologist I have an appointment for is a general neurologist and they do not have a cancel list. I made that appointment a while ago when my symptoms were more subjective/less intense, but since then I have been trying to get into a neurologist that specializes in neuromuscular conditions, although they have been hard to talk to, I'm still waiting for them to call back since I sent a referral and records.

I am not sure if I want to get a genetic test until a positive emg since a genetic test won't change the diagnosis. There is a chance that this is not als, but I could get it in the future, and if that's the case I'd rather not know until I need to. Plus this could affect my family, I know one of my aunts was very worried about familial als after the second person got it. Also, do you know if the sod1 mutation cause FTD/ALS? It was not confirmed since this was many years ago but my grandmother had some mood and behavior changes with als that could have been FTD, which from what I've heard is more common with c9 gene.

 

[Nikki J]

You may be told sod1 doesn’t cause ftd. I know families with confirmed sod1 and autopsy confirmed ftd. Fus is known to cause ftd as well as als as are a number of other mutations. I have never heard of a 19 yo with c9 als.

The main reason for getting genetic testing asap is that the treatments for sod1 and fus need to be started early. Genetic testing takes time to come back.

 

[lgelb]

In terms of genetic testing, with or without a positive EMG, you might want to consider your and other family members' reproductive planning, which could be materially affected by results. Academic medical centers have genetics counselors with whom you can discuss.

As Nikki noted, treatment is time-sensitive as well. Normally, it would be a neurologist that would refer to the neuromuscular specialist, so that may be the holdup with your self-referral. But if the general neuro you're booked with is too far out, there will be a general neurologist at any of the following centers, who can easily refer to a neuromuscular colleague.

ALS Clinics/Programs in US and Canada

Includes facilities certified by the ALSA and/or MDA, VA facilities, and other known programs. For more information and to ask for feedback on options in your area, see alsforums.com.

www.easymapmaker.com

 

[rmt]

Maybe I missed it, but how is your dad? He would need to have gotten a gene from your grandmother in order for you to get it. Does he or any of his siblings have ALS or FTD?

 

[Nikki J]

Her dad passed from something else she said

 

[lauren74]

My dad died of a heart attack nearly 6 years ago with no sign of ALS or FTD. His siblings are much younger and also have no signs, plus their genetics would not affect my odds. I realized theres a decent chance that the nephew had genetic testing done since he had ALS pretty recently, probably 2 or 3 years ago, and had a close relative with it, so I'll ask if they know what gene it is.

As for the neurologist, I am still waiting on paperwork to be received to schedule an appointment. The neuro is not trained as a neuromuscular specialist, but typically works with neuromuscular conditions with her info page mentioning ALS and myasthenia gravis specifically. I also have the appointment in march, and I can call around to see if anywhere else can get me on a cancelation list.

I appreciate your advice, although I really wish I was being told I was just being overly worried lol. I'm just going to try to ignore this until I can get testing and focus on school.