Awaiting Results

Drumond30

New member
Joined
Apr 30, 2022
Messages
2
Reason
Loved one DX
Diagnosis
12/2021
Country
UK
We are currently waiting on the genetic testing results for my Dad. He was diagnosed with ALS at 71 but had symptoms a year before that. At first we thought it was just sporadic, no family history that we know of. My grandmother died at 70 of cancer. However, my Dad's sister has FTD, diagnosed about 7 years ago in her mid 50s.

Am I right in assuming because there is ALS and FTD in one generation this is considered FALS?

I am early 40s with 2 small children and very frightened about what the results might bring.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
11,731
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
No. One case of ALS and one of FTD does not necessarily mean FALS unless a mutation is found on testing. Bad luck happens . Technically even two cases of ALS in first degree relatives are possible FALS without a positive test. Anyway there is a lot of work being done on genetic FTD/ ALS. Should a FTD/ ALS mutation be identified you should look into the gen fi study. It is ftd but they accept first degree relatives of someone with ALS if the mutation is implicated in FTD. Several of my relatives participated in the last phase and there are some good data from the study already. Answers are close and if you do end up finding a mutation you can help. Studying potential carriers is critical
 

Drumond30

New member
Joined
Apr 30, 2022
Messages
2
Reason
Loved one DX
Diagnosis
12/2021
Country
UK
Thank you for the very quick reply, it is very much appreciated. Life has been a whirlwind since Dec, we never realised there was a link between ALS and FTD until Dad's consultant specifically asked if anyone in the family had ALS or FTD.

Sadly my Dad's progression has been exceptionally fast and he now requires 24/7 care which we are managing as a family at home. The stress of now waiting for the genetic testing is overwhelming on top of caring for Dad, working and keeping a family home with 2 small children running. I believe we have a another 2/3 weeks before the results are back.
 
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