Stressing

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Zd71

New member
Joined
Dec 2, 2019
Messages
2
Reason
Lost a loved one
Diagnosis
00/0000
Country
AU
State
AU
City
Ayr
Hi. Iam a new member. My mum died from Mnd 15 years ago aged (49) . We thought it was sporadic until her sister died last year at age (68)from Mnd. There are 4 children in this family. None of my grandfathers side have died from disease. My grandmother died at 83 from kidney failure with no signs of Mnd ..... we no nothing of her side of family at all . I Am 48 with 3 children , didn’t have as much anxiety s I do as of late. I’m just scared and needed to tell someone. Sorry if this has upset anyone.
 

Nikki J

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Joined
Mar 22, 2012
Messages
8,423
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
Hi Z

sorry about your family. Was your aunt genetically tested?

it is very likely to be FALS though grim coincidences do happen.

the good news about FALS is we are getting very close to answers. Right now there is an MND conference in Perth. One of the professors was asked at a session given for patients and families how close we are to cure.

he said it depends on what type of ALS for sod1 ( the second most common form of FALS ) within a couple of years. For most ALS we will have mitigating treatments in five years. Then another professor said the other genetic forms will be next.

c9orf72 which is the most common form of FALS in European ancestry populations is currently in trial for gene blocking as is sod1. Sod1 started trials about 2.5 years ahead of c9

I am c9. My neuro is extremely optimistic for my cousins who are asymptomatic but my age. She has told me not to worry about the teenage children
 

KimT

Forum Supporter
Extremely helpful member
Joined
Nov 18, 2014
Messages
3,684
Reason
PALS
Diagnosis
08/2015
Country
US
State
South
City
The Beach
Hi,

You are always welcome to post on this forum and, please, don't worry about upsetting anyone.

Nikki knows more than anyone else about FALS and I think her post was very encouraging.

It's always an option to be tested. If you are clear, your children are as well. I'm not FALS but when I went to Johns Hopkins for a 3rd opinion, they tested me for c9 and they do it routinely now.

The only caveat I would add if you want to get tested is to buy extra life insurance before the test.

There have been odd things with ALS, though very rare. A husband and wife from my home town both had ALS and I know of one other couple who both had it, though it was 15 years apart.

Best wishes and feel free to post any question you might have.
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
8,423
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
A caveat on testing an asymptomatic person if the family gene mutation is unknown. Not all FALS mutations are identified. About 30 percent of PALS with a very clear FALS history ( multi relatives, multi generations) have no identifiable mutation when tested. So an asymptomatic first degree relative may have a 50/50 chance of inheriting a FALS mutation but when you have a 30 percent chance the family mutation is no testable a negative result will be wrong about 15 percent of the time.

generally asymptomatic testing of unknown mutations is not recommended By geneticists. Testing PALS for c9 is now fairly routine but that is a different scenario
 

Zd71

New member
Joined
Dec 2, 2019
Messages
2
Reason
Lost a loved one
Diagnosis
00/0000
Country
AU
State
AU
City
Ayr
Hi Z

sorry about your family. Was your aunt genetically tested?

it is very likely to be FALS though grim coincidences do happen.

the good news about FALS is we are getting very close to answers. Right now there is an MND conference in Perth. One of the professors was asked at a session given for patients and families how close we are to cure.

he said it depends on what type of ALS for sod1 ( the second most common form of FALS ) within a couple of years. For most ALS we will have mitigating treatments in five years. Then another professor said the other genetic forms will be next.

c9orf72 which is the most common form of FALS in European ancestry populations is currently in trial for gene blocking as is sod1. Sod1 started trials about 2.5 years ahead of c9

I am c9. My neuro is extremely optimistic for my cousins who are asymptomatic but my age. She has told me not to worry about the teenage children
Hi no my aunt didn’t do genetic testing. 😢
 
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