Status
Not open for further replies.

perfectpour

New member
Joined
Feb 13, 2016
Messages
3
Reason
Lost a loved one
Country
Uni
State
South Carolina
City
Conway
Hi, I belong to a FALS family that has lost 13 members to ALS, including my father at the age of 55 and his brother at the age of 48. They had several aunts, uncles and cousins pass from ALS as well. I still can't believe this, but unfortunately none of them were tested for defective genes.

My question is this...Do you know of a specific defective gene related to ALS that has been identified to makes ALS progress unusually fast in patients? All of my family members with ALS have passed in 10 months or less from the onset of symptoms. So it moves very fast in this family. Just wondering if there is any useful information associated with what our family experiences. Thanks for your time.
 
Hi sorry about the family. One of the sod1 defects is pretty aggressive though the people I knew with it tended to last 12-18 months mostly from first symptoms. And I know people with different genetic defects that have died very quickly. I don't think you can fully rely on the rapidity to say with confidence it is or is not a specific gene. I am sorry you are in this position. I am guessing you would consider testing if you knew what to test for? Not having the option to choose testing is very hard.
 
I am C9 orf 72 positive but de nova, the first occurrence in my family. I am atypical for this gene. I am going on my aid the year with ALS and am still talking, breathing, and eating. We are all very different. The best of luck to you..
 
Our family gene is TARDBP but we do not have near as fast progression as your family seems to. My Mom was about 7 months from "official" diagnosis but she was respiratory onset and had suspected it a year before that. Most of the rest of the aunts, uncles, and cousins I can think of have been a couple years or longer. Have you contacted any of the clinics/hospitals/universities that are researching to see if they might have any opportunities for your family to be tested and followed?

I'm so sorry your family's is so very quick. God bless all of you.
 
Have they linked any genetic anticipation to c9orf72 or SOD1? My family has one ALS case in 9 siblings from my grandfathers generation, and one suspected ALS case ( my mother ) out of 33 cousins from those 9 siblings. Most of the cousins are currently 55+ and my mom is 61. My great aunt who had ALS was 77 at onset. My grandfather was diagnosed with a milder form of Parkinson's at 70 and died at 75 from lung cancer.
 
I have heard that they think onset age decreases by about 7 years per generation in c9. It is not much discussed and it was at least a couple of years ago I heard this. I have never heard it said of sod1 but maybe??? My family had a big decrease between my mother's generation and mine. My sister ,the youngest so far in our family, was 20-35 years younger than the prior generation. We are c9
 
Hi Nikki,
Yes I do want the testing and would love to help out with studies and trials if they needed or could use me. But everyone I have contacted requires previous testing of a family member currently living with ALS or deceased because of ALS. It is so frustrating.
I do not currently have any symptoms. I experience twitching all over, but I am chalking that up to an injury and surgeries that have left me less active(but not weak) for the past 18 months. I guess all I can do is continue to be proactive in this fight for a cure and/or treatment and try to convince any future family members diagnosed with ALS (praying there isn't anymore) to be tested. Thanks for time and have a great day.
 
Yes that is what I know and hear- and every study I have been in not only want an identified defect they need to see the paper result. The only exception which will not help you is UPenn FTD research. They have a c9 study but also one for healthy people with a family history of FTD which can go along with ALS and especially with some forms of FALS. I think they do genetic testing and share results. I mention this for future readers

Hope no one in your family ever has to deal with this again but if you are close to other at risk relatives maybe you can all agree to be tested if the time comes and be sure they clearly instruct their significant other to share the results if they can not. I know of 2 cases where the surviving spouse refused to tell results to the siblings of the deceased PALS. Incredible that someone would be so vindictive but true!

Good luck.
 
Thank you BillH. I have contacted several different agencies and groups. All of which require previous testing of current or past family members diagnosed with FALS. None of my family members were ever tested. Or if they were, no information was ever shared. So frustrating.
 
Status
Not open for further replies.
Back
Top