Familial ALS history- 44yo/f early symptoms

[KristieOz]

Hi all,

Background: I am 44/yo f with family history of mnd (both my uncles (mum’s brothers) sadly diagnosed and passed, and I since have discovered evidence of Mnd going back on my mum’s father’s side for several generations. Onset ages vary from 20’s to 80’s. Progression rates also vary.

My symptoms: I had vaguely been aware that my hands had felt clunky or less nimble when cooking etc for several months but didn’t think much of it until late August when I was hanging out washing and my ring and pinky finger couldn’t seem to extend up and over the line whilst I was pegging the clothes. That stopped me in my tracks as several days before my left hand had gotten stuck in a painless claw-like position after I’d been holding something and I was able to painlessly stretch it out and thought I was just dehydrated or something until the washing line incident.
I also have some weakness in my right front ankle that has progressed up outer calf (Feels like I’m recovering from a ligament injury or something, but obviously have no such injury).
All over body twitching has also started about 2 weeks ago when at rest.
Today my left hand feels worse than the right, it aches like it’s about to cramp when I use it, my fingers feel stiff and uncoordinated and this morning I found it harder than usual to unclip a container lid while getting breakfast. My wrists are also clunking and it’s difficult to release small things from my hand when I’ve picked something up. It’s like my joints are too stiff or something.

Medically: I have been to my GP and had an mri of my brain and cervical spine. Both were clear. Strength tests performed by gp were fine, but he referred me to a neurologist because of my ongoing symptoms and family history. His referral letter unfortunately queries whether it’s early onset mnd. I see the neurologist next week.

Obviously I’m terrified. I have an almost 7yo boy and I feel I’m getting worse daily. I know I can only be diagnosed by my neurologist, but does this sound familiar at all?

Thank you for listening.

 

[Nikki J]

First don’t obsess over the referral letter. Of course that is why you are going to see whether it is You knew that. That doesn’t mean he really thinks it is necessarily but they have to put the reason/ the question the consultant is being asked.
with family history like yours it is best to get checked. No clinical weakness is a hopeful sign

as you no doubt know inheritance of a mutation is a 50/50 chance. If your mum didn’t inherit it you can’t If she did then it would be 50/50 chance for you. How is your mum?

good luck with the appointment. Do please let us know

 

[KristieOz]

Thanks Nikki.

My mum is well so far, which is why I have done my best not to waste my time worrying until these recent symptoms. Her older brother however, didn’t develop symptoms until he was in his early 80s, while her younger brother’s started in his 50’s. At that time we thought it was sporadic until her older brother was diagnosed decades later.
My mum hasn’t reached her 80’s yet. My grandfather (their father) and two of his 3 siblings also passed of dementia, which I now understand can be an alternative presentation in certain cases. He was also 84.
Anyway, I’m just hoping for the best.

 

[affected]

When you say they passed of dementia, do you mean AH?
Which gene is involved for your family?

I bet your fears are jumping at you, but as Nikki notes, you can't inherit it if your mum doesn't have the gene. The chances that you would develop it so young while your mum is symptom free is really a very low chance.

 

[KristieOz]

Hi affected,

Thanks for your reply.

No one has been tested in my family (we’re in Australia) so I don’t know the gene. My oldest uncle only passed a year ago, and to my knowledge wasn’t tested. Until that time we had no idea that mnd could even be familial. My younger uncle had onset in his 50s so we thought it was sporadic.

I also don’t know what kind of dementia my grandfather had- again it was back in the 1990s and I was 16. I do recall visiting him at his care home and his fingers were permanently frozen in a curled position and he wasn’t mobile. He also had no idea who I was and passed quite quickly. My mum worked with the elderly though and specified it was dementia. She also has not been tested.

To be frank, I had no intention to get tested either as I was quite happy living my life with the knowledge it was a 50/50, and wasn’t going to live in fear of that since I figured something else could easily get me first. I too figured my mother’s lack of symptoms as a good sign that I’d make it to my 70’s.

Since developing these problems though I’ve had to confront this possibility. In doing so I’ve traced through our ancestry which was done by one of mum’s cousins several years ago. In looking closely it seems that whatever gene we have has struck different members of different generations at different ages- eg. A picture of my great grandmother’s brother, (my grandfather’s uncle) wheelchair bound and clearly affected in his 40s. He died at 46. Then there’s a newspaper tribute to my grandfather’s grandmother who died of “a long, painful illness and was ministered to for many years by her dedicated daughter.” She died at 65. My grandfather’s mother however died of a heart attack whilst running for a train at 60, so may have died before symptoms onset.

Trust me, I wish I had no family history. I wish my hands would just work normally again. I’m not an anxious person, and typically quite logical. But unfortunately I can’t ignore the fact that things are getting harder and I’m quite naturally getting scared for what that may mean. I’m still hopeful that it’s something else, and I appreciate you pointing out the fact that there’s still hope in the fact that my mum is asymptomatic.

 

[affected]

I'm also in Australia.
I asked because there are many different kinds of dementia and they are not related to each other.
Only one kind is related to one specific gene that causes ALS. That particular kind does not usually result in memory loss and not recognising people like AD does.

So what I'm saying is that you haven't quite hit a big case of familial ALS in the way you might think.
Your profile doesn't indicate where you are in Oz and you don't have to say, but I'm wondering who you are being referred to. Are you going to be attending an MND clinic where you can see a neuromuscular specialist? Have you sought advice from your state MND association?
It will be important to either quickly rule out ALS, or get you examined and tested by the right branch of neurology.
Honestly, most neurologists in Oz that are not neuromuscular specialists have never seen a case of ALS because it is so rare. Seeing them will be a waste of time.

So far as your mum. The way familial ALS works is that if she does not have the gene, she cannot possibly pass it on to you. She had a 50/50 of having it ONLY if is actually familial which you don't know, you are presuming this as there has been no genetic testing to confirm this in the family members that have had ALS.

I think you need to get seen by the right specialist and get this sorted so that you don't go down a very scary and deep rabbit hole.

 

[Nikki J]

You had commented about someone with onset in their 20s. If it weren’t for that I would say this sounds like C9orf72 onset in 20s is textbook rare though Your 2 uncles make the case for possible FALS by definition it is true the other things are not conclusively ALS but the further back you go the less likely you are going to find definitive diagnoses

you have every right to be concerned and I hope the neurologist is competent to address your issues

 

[KristieOz]

With my grandfather, he recognised my mum but thought I was his daughter in law. I hadn’t seen him since I was six and then saw him again for the first time shortly before he passed when I was 16.

Yeah I understand my ancestry is somewhat speculative with the exception of my two uncles who were diagnosed and the photo of my grandfather’s uncle in the wheelchair would highly suggest it just by the state of his limbs.

I’m in Brisbane and referred to Dan McLaughlin. I saw there is an MND multidisciplinary clinic at prince Charles hospital but didn’t know if I need a referral from my neurologist or can approach them directly.

 

[KristieOz]

Yes, the suspected onset in the person in their 20s (24) was the daughter of the woman in her 60’s who had died after a “long and painful illness and ministered to for many years by her dedicated daughter.” Another obituary was placed for her daughter that is basically the same but instead of saying she was ministered to, it says she left behind a young son. I think she may have predeceased her mother.

The only reason I bothered to trace back through ancestry was because I was hoping of no further evidence of anything and that my uncles were somehow two sporadic cases given their wildly different ages at onset. I could go on and on about other suggestive cases from 2-3 generations ago but that’s truly speculative and doesn’t really change much about where I find myself today.

Thanks and I’m hopeful of some good medical consultants. I’m making videos for my young son while I look and sound the same, which is hard but helpful as I feel like I’m doing something. Obviously my biggest concern (other than not seeing him grow up) is whether or not I’ve sentenced him to a similar fate. That one is really tough.

Anyway. One day at a time.

 

[Nikki J]

Long and painful illness is exceedingly vague. If that is all you have for these 2 I would be just as inclined if not more so to think cancer. Reporting used to be very coy about it. This only matters because the onset age of 20s makes c9 unlikely if true and c9 is the mutation most commonly found with a dementia history mixed with ALS. It is hard to trace back I thought a multi great grandfather and his sister probably had it as they died youngish 50. It turned out the sister had cancer and he had been in a bad accident and succumbed to pneumonia soon after. I hope you have luck with the neurologist. Are you planning to asl for genetic testing? Re your child my neurologist always tells me not to worry for the children in the family. She is sure they will have prevention and cure for the common genetic forms

 

[KristieOz]

Hi Nikki,

Thank you and yes I saw you tell another familial als poster who was worried for her children not to worry for them and all the studies/trials going on. I cried with relief that there is some hope. So thank you for that.

Yes, if mnd is confirmed I will be tested so I can tell my husband. I don’t want him to burden my son with this knowledge until he’s much older (late 20s at least) as I don’t want his life to be ruined. But I do want him to have the option to test himself and potentially take steps if he chooses to start a family to end the genetic risk with him.

 

[affected]

The MND clinic at the Royal is highly recommended. That is where we were diagnosed. Your GP can make a referral. That's how we got there, although actually a speech pathologist got us the appointment very fast (we only had to wait 4 or 5 weeks) and then the GP did the referral.
Dan McLaughlin is a general Neurologist, and probably a waste of your time. Remember it can take months to get appointments with these specialists, so you could delay really knowing by seeing a general neuro and then having to wait for the appointment from another referral.

I don't feel it is helpful to do long conversations speculating on the illness of family members by text here when the information is vague. Especially when you may say one thing, then say you meant something else when we dig deeper. I want to save you some true deep anxiety by suggesting you stop this path. It is different if you have past medical records with diagnostic history to compare.

Getting to the MND Clinic is going to your best action. Maybe you can get a tele-visit with your GP or email to ask for the referral today?
If you are lucky you could get an appointment in the next month or two at most and you can then move forward with clear information.

 

[KristieOz]

Do you mean the Royal Brisbane and Women’s? If so I’ll give them a call.

 

[affected]

Yes that's right - you will need a referral from your GP however.

 

[KristieOz]

Okay thanks. I’ll call my gp and request a referral for there. Really appreciate your guidance.