Concerned I am presenting with FALS

[Darius]

I’m 26. Male.

My mother and great auntie were diagnosed. My mother very recently actually.

My family has dementia and Alzheimer’s in its lineage - my mother's sister past at 68 years old of sepsis but she had very bad dementia towards the end. And my mother's father had Alzheimer's.

I am unaware of family gene mutation, and have not yet had genetic testing. But I obviously suspect c9 I have not failed diagnostics carried out by my general practitioner, but she admits if I have the symptoms listed below, it'd be necessary to see a neurologist. Which obviously I pushed for.

I’ve got right arm weakness, right leg weakness, that is leading to a very heavy limb feeling. I've also got fasciculations all over my right arm and leg. The right leg and arm are now also showing signs of fasciculations and I cramp a lot in my arms and calves and feet.

I have recently observed my voice begin to stammer and tremor. I also have lower back pain that I can't contribute to much other than some exercise that could intensify it.

 

[Nikki J]

I have moved your thread because you want input on your symptoms and it belongs here.

it is very common to have these fears when a family member is diagnosed especially when there is a FALS pattern

you do not as of now have confirmed clinical weakness. You are also reporting symptoms in multiple areas If they are occurring together that argues against ALS as does back pain. By all means so get checked out however

c9 average onset age for males is late 50s. the general wisdom is not before age 35. There are a few cases below that in the literature but none as young as 26.

if you suspect c9 in the family it is important to get a diagnosed person tested as of a couple of years at least asymptomatic people could not get tested in the UK unless they presented a copy of a family member’s genetic test. I had to give a copy of my test to my cousins when they went for genetic counseling 3 different locations so I believe it to be NHS regulation.
c9 genetic treatment is in trial. If it works they plan to trial carriers so there will likely be prevention for you if your family has c9 and if you inherited the mutation from your mum

 

[Darius]

Hello Nikki,

Thank you for your response.

My GP was eager for me to be seen by a neurologist, so I am currently attempting to book a private consultation with one this week.

Are you saying that if I did indeed manage to obtain an appointment, that any neurologist would not test me (EMG, CT, full neurological, muscle diagnostics) without having a genetic test result at hand even if they were private?

If so, what is the best way for me to get my mother tested - do I reach out to anyone in particular on her behalf? She is just getting to grips with her diagnosis, so I'm a bit cautious not to overwhelm her at this point. But I am sufficiently worried about my symptoms to want to be proactive.

Also, I for me the muscle size in my right arm is noticeable - so this has increased my worry given the emphasis placed on noticing the physical atrophy as well as the weakness.

Thank you again for providing me more information at this time, it's much appreciated.

Best.
Darius

 

[Nikki J]

First no I am saying a genetic test for c9 will not be given to an asymptomatic person who does not have documentation If the neurologist feels you need diagnostic testing as you listed they will order it I doubt you have ALS quite frankly which is why I think gene testing your mom is important. It is important for anyone in the family who is at risk given that knowing the family mutation would be necessary to receive preventive treatment when it arrived.

i think that your mother’s neurologist can order the test. Given family history I am surprised it wasn’t offered. Is she being seen by an MND specialist?

2 family members with MND that are second degree relatives are generally considered possible FALS. Adding in dementia and your location ( if you are ethnically northern European) does make c9 likely in the family.

if you are cleared but confirm c9 in the family please look into the Genfi study. It is a big multi country ftd study and c9 is one of its targets. 3 of my relatives are in it. There is a study site in Manchester

 

[Darius]

The neurologist who diagnosed my mother is a consultant and specialises in muscle disease I believe, not just MND.

He's also the one I'd be seeing privately, if I book this appointment as recommended.

Would you recommend these first steps?

1. Book this appointment consultation for myself (it will be over the phone apparently).
*Will he carry out further testing in person if this call flags anything?

2. Ask neurologist to order the test for my mother.

Anything else?

I will look into the study in Manchester.

 

[Nikki J]

Yes. Talk to the neuro. See what they say. Ask about c9 testing. It is, of course, possible your mum refused or the neuro judged her not ready to deal with the FALS aspect yet. Hopefully she will get tested at some point as it gives information to the family. If you are planning a family at some point and do not yet have a biological child the NHS covers one pregnancy with prescreening technology for genetic carriers . This may matter to you, siblings or cousins

 

[Darius]

Thank you Nikki.

 

[Darius]

I've confirmed my neurologist video consultation for this Thursday, but I feel really anxious and afraid right now.

I feel like I won't be able to relax until an EMG. Do you think it will take a very long time to get an EMG during the pandemic, if the neurologist warrants one?

 

[Darius]

Hi,

Since my last update I have found out the following, and had a neurologist consultation. I am male, 26, in a few days I turn 27.

Family background
My mother and great auntie were diagnosed with MND. My mother quite recently in 2020, at 65.

She has also informed me that the c9 gene is what our family carry - she was tested last year in Manchester, UK. She was diagnosed a year later.

Neurologist consultation/symptoms:
Last week I had a neurologist consultation and the consultant discussed all of the symptoms I've been experiencing.

My symptoms are the following:

• Right arm cramping in my bicep and tricep (when holding the telephone to my hear, typing, writing, squeezing)
• Right hand grip strength perceived as less powerful (when do dumbbell exercises and hand grip crunches)
• Lifting my right arm up for even short periods results in fatigue and some painful cramps, along with tremoring.
• I've also observed physical differences in bicep and tricep muscle size in comparison to my left. This "mild atrophy" was observed by the consultant during our phone call. He didn't notice any scapular winging.
• My right hand and fingers in my right hand overall feel a lot more stiff, as does my right pectoral.
• Twitching is present in my right arm and leg and can persist for long periods.
• In my right leg there is heavy leg sensation when walking. Also very stiff in the knee, and tense in my hamstring and calf.
• I also have lasting fatigue that I cannot contribute to much else other than occasional body weight training exercise - which has recently become very challenging, especially when isolating right sided activities.

The neurologist closed our consultation by saying, if he hadn't known about my family history he would suggest BFS, given it can present with the above. And says symptoms could point toward peripheral nerve hyperexcitability syndrome. But obviously has taken my family history into consideration. As a result he's referred me to neurophysiology at the hospital to perform testing next week. Presumably EMG.

At this stage I'm anxious and after only just getting the official diagnosis on my mother's condition last month, am finding this overwhelmingly stressful to have to go through. I haven't spoken to my family much about my own health checks, as we are focused on my mother, but I'm growing increasingly concerned we could have two cases on our hands in a matter of weeks.

The EMG couldn't come soon enough, although I probably need to take some time and just keep calm as best as I can.

 

[Nikki J]

In other words he thinks it is bfs but in an abundance of caution and solely due to family history he ordered an emg.

so you are freaking out even though if it were ALS it would be an atypical presentation at an age that would get a paper written about you.

all you can do is have the emg and promise yourself you will believe the results. And remember lots of people have little benign findings on emgs. ALS has a distinctive pattern. Next week is just around the corner. Let us know what happens

 

[affected]

Please calm down, let them do the tests, but with respect I want to suggest you maybe think about supporting your mum who is dealing with the actuality of having this disease and needs all the support you can give. When she is gone you won't be able to get the time back with her that you could have now.
As Nikki says, you just would not present with the same disease in the same year, 40 years younger than your mother.

 

[Darius]

I take both of your collective words and advice seriously, and apologise if the update message appeared disrespectful.

I do believe focusing on my mother is of upmost importance right now and will update you with regards to my next visit to the hospital.

I also have a genetic counsellor consultation in the next fortnight, not sure if that is relevant or not.

 

[Nikki J]

Good luck.
re the genetic counselor if you want to get tested for c9 ( or think you might) that is the way to proceed.
unless they have changed the rules there is a mandatory 1 month wait after counseling before you can do the test.

I encourage you to think very very very hard about testing. You are very emotional now and once you know you can’t put the genie back in the bottle. I know people who wish they never found out

that said, if you are going to start a family soon you need to know if you might want to use technology to have an unaffected child

you can participate in gen fi research without knowing your mutation status

i know someone whose counselor suggested living for 2 weeks as if you knew you were negative and 2 weeks as positive to see how they felt.

in the not so distant future there will be prevention trials ( years not months) you would probably want to know then but that testing could be done when that is closer.
the genetic counselor is a good thing. You can go and then say not yet. After counseling 2 of my relatives chose not to test

I am sorry about your mum. I have been through this with multiple relatives including my mum and sister. It is very hard

 

[Darius]

I visited the hospital last week, and had an EMG and nerve conduction test carried out. Upon completion, the EMG technician mentioned he noticed "subtle differences" between my right and left side. And I'd have to wait to speak with my neurologist about his analysis next week.

I rang my GP to keep her in the loop, as my neurology visits have been privately organised.

Since then I've checked my medical records online to see if my EMG results have been logged, which you can do in the UK, they haven't. But it appears the letter of referral my GP sent to the hospital that does genetic testing mention "I'd like to refer this young gentleman for genetic testing after he has recent been diagnosed with MND, as has his mother".

Either she has misinterpreted the post-EMG feedback I gave her as a diagnosis on our last phone call, or she has heard something from the neurophysiology department at the private hospital before me.

Either way - I'll keep you updated after I speak with my neurologist.

 

[affected]

Sounds like you need to phone your GP rather than sit and stew over this as it seems pretty odd.