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MJALSWarrior

Member
Joined
Dec 13, 2017
Messages
28
Reason
PALS
Diagnosis
12/2017
Country
US
State
SC
City
Charleston
I was recently diagnosed with Onset Bulbar ALS. The question came up about history and I told the Neuro that my grandfather, a cousin and 2 of my grandfathers nieces had it. My understanding is that to connect it as familial my grandfather would have had to had a genetics test for them to be able to identify the faulty gene that is causing mine. Unfortunately he did not have that done.

I plan on pushing for genetic testing in order for my offspring to have the info to help them if one of them is affected.

Am I reading this right on what the purpose of genetic testing is?
 
With that history it sounds familial. Coincidences happen but not like that. What is the status/ what happened to your relevant parent?

You are absolutely right to insist on genetic testing. I am surprised that it was not immediately offered. Only about 60-70 percent of FALS cases have an identified genetic defect. If you do not test positive for any please look into storing your blood for future testing.

Answers are getting close for FALS and the information will be invaluable for your children as I think prevention will come soon after treatment.

For you too it is vital to find out. SOD1 gene blocking is in trials now. That study was still recruiting as of last week but I think it may be closing soon. It seems promising though no one can discuss what they are finding yet. Everyone sounds optimistic though.

C9orf72 is the most common cause of FALS in European ancestry PALS. I am told 3 different trials for this are expected in under a year. One is supposed to start in the spring.

You need to know your status in case you qualify for a trial
 
It was all on my mothers side. It was her dad that was PALS. My mom passed away Aug 2016 from acute liver failure
 
How old was/ is everybody? C9 has an average age of onset late 50s , can start as young as 35 and people who are carriers are virtually always affected by early 80s ( per my neurogeneticist and also reading)
 
Grandfather was mid 70's, cousin was in her 50's and the two nieces we don't know.
 
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