Is early onset indicative of Fals?

[AP1981]

Something has been playing on my mind. My neurologist said there was a 40% chance of my ALS being genetic as it is so rare to get ALS at 34.

I am certain my dad's side of the family does not carry the gene. He is one of 7 kids, I have 30 cousins. No one has ALS.

My mum's family is small. She has a brother. Her mum died at 90 from Alzheimer's. It was not frontotemporal dementia. My mum's dad died in a car accident at 40. He had a sister who lived until 90 with no disease.

My mum is 64. If I have FALS would my mum have it by now?

 

[Green Queen]

Oh man, that is young.
So sad that you have that diagnosis.
There are people here who can answer your question. They are all catching zzzz on the other side of the world at the mo.

May I ask who your Neuro is?
I see Wally Knezovic at Murdoch.
God bless, Janelle x

 

[AP1981]

I see Merrily at FSH.

Are you at SJOG in Murdoch or FSH?

 

[Nikki J]

Hi
I have never read that statistic. Wondering if your neuro has research to back that up or if it is an off the cuff estimate. It is certainly true that FALS often has a younger onset than SALS. But there are quite a few young people I can think of who appear to be SALS. Has your neuro offered genetic testing? There are tests for about 75 percent of FALS genes.

Could your mom be a carrier? Highly unlikely especially if no one before her had it. I have seen in papers on FALS genetics very occasionally there are people identified as obligate carriers who live to an old age without symptoms. That means they pretty much had to have had the studied gene defect. For example their mom died of ALS and so did their children. There are also cases of someone apparently spontaneously developing a defect when no one before them had it. C9 orf72 ( the gene defect I have) is known to be found in a percentage of SALS maybe as much of 15 percent. You are very young for c9. Even though the average onset is younger than the average for SALS it is not SUPPOSED to occur before 35 and more typically 40s-50s and even older. I place the emphasis because I do know of a case with the very first symptom at 34

 

[BillH]

So sorry to hear this news at your age. Our family has the TARDBP gene. No one in our family has gotten ALS at such a young age. My Mom died in 2001 and she was well past 70, as is one of her brothers today. Most of our family seem to be in their 50's and 60's though when onset starts. I'm only sharing our info and not trying to corelate it to your experience. Like Nikki I would be curious to know if there is some current study or stats that leads your doc in that direction... Esp if no one else in your family has/had it before you. No one in our families has gotten it before their parent or without the parent also having it (no skips). I know, small sample size... Can't draw conclusions but it is one answer to your question.

 

[LeprechaunSean]

I have SALS. Symptoms onset at 32, diagnosed at 33. Whole exome tested, no SOD1 or C9ORF72. From what I have read, common denominators for early onset are athleticism, military service and intense stress.

 

[AP1981]

Interesting about the athleticism. I was running 40km a week and extremely fit prior to onset. I also was going through a stressful pregnancy. Who knows really.

Thanks for everyone's replies. I have no idea where my neuro got the 40% statistic from.

 

[LeprechaunSean]

I was was working out twice a day, running marathons and working 10-14 hours a day prior to onset. I have some articles on my facebook page about athletes with ALS.

https://www.facebook.com/ALSeanTagert/

 

[Green Queen]

AP I'm from Geraldton, so travel to see Wally.
I see him in his rooms...not even sure what the building is called, have to drive passed FSH to get there. Building right next to Murdoch. A bit of a pain to get to his rooms, they are always renovating somewhere!

God bless, Janelle x

 

[Grace89]

AP,
Just sharing...I am also 34 with no family history of ALS. I have a great uncle on my mothers side of the family with Parkinson's that some of my Drs have taken into consideration. It is very odd how it happens to all of us.

 

[akaal]

My family has the SOD1 A4V variety. I have lost a sister at age 54 and a brother at age 47. We have lost 30 family members going back to the early 1900's. The youngest I know of was my sisters daughter (my niece) who was diagnosed at age 27, and died at age 30.

The avg. age in our family seems to be between 45-55 at diagnoses. But as you can see in my nieces case there are extremes, which I think is true for all variations of the disease.

Also life expectancy in my family's case is usually within 3 years of diagnoses, with many dying within a year. I am at close to 2 years since diagnoses myself. slowing down but hanging on.

Peace and Love.

Andy

 

[hjlindley]

I am de nova, which means the the first one with a genetic defect. My onset was certainly the older age than you. Like Nikki I am C9ORF72 but I was exposed to a lot of pesticides growing up in Hawaii. This disease has so many variants. I was already diagnosed when I did the genetic tests. I don't have any children, so I did the tests out of just curiosity. I had an probable diagnosis in 2009, a definitive diagnosis in 2011. I was distal onset so I'm still speaking, breathing, and eating but don't ask me to do anything with my hands. Good luck to you.
Hollister