Worried about my children

[kdavis7]

Good afternoon,
My father was diagnosed with ALS on October 6, 2017. The critical care neurologist said he was about 16-18 month into the progression of the disease and gave him about 8 months. In retrospect, we feel that he was probably more like 2-3 years into the disease. He passed away October 26. There was no other of his family members that we know of that had it.

ALS runs in my husband's family. His maternal grandmother and his great grandmother both passed from ALS. There were 8 siblings in his mothers family. His mother's oldest sister and youngest brother also passed from ALS. One of her brothers was diagnosed and passed away from Alzheimer's. Her youngest sister has dementia and can no longer dress or feed herself. No one has indicated that either of these are related to ALS. His cousin passed away with it at a young age and one of her brothers is living with it. They are both children of his aunt that passed away. His mother is now 80 years old and he is 59 so we are hoping she doesn't have the gene and it stops there.

My question is how does this affect my children now that it is on both sides of the family? To say that I am freaked out it putting it mildly.

Thank you for reading.

Kim

 

[lgelb]

Kim,

Very sorry to hear about your dad's passing. If no one else on your side had it, that would not normally be seen as a significant risk factor for your children. However, has genetic testing been done to determine the specific gene involved in your husband's family?

In order for your husband's family members to benefit from and contribute to research ongoing in genetic ALS subtypes, genetic testing or reviewing what has already been done would be the first step. A medical geneticist (perhaps at Emory) could review the family history and records, and suggest next steps.

Best,
Laurie

 

[Nikki J]

I am sorry you have to deal with from both sides and sorry for your loss

Let's talk about each risk separately. Your increased risk of ALS from your dad is almost nonexistent. The current thinking is there may a slight genetic susceptibility which is why he got it. However for it to have happened he needed a number of triggers to occur. This is truly not worth worrying about and is not going to add to any risk from the other side.

Your husband's family history is a concern of course. Whatever the family genetic defect is it sounds highly penetrant meaning if someone carries the defect their disease risk is high. The fact that your mil is fine at 80 is obviously encouraging. She had a 50 percent chance of inheriting it. If she did not there is no increased risk for your husband. If she did your husband's risk is 50/50 and if he did the children each have a 50/50 risk. That is a lot of ifs especially as mil is asymptomatic

The dementia history may be related c9 orf72 can manifest as dementia- usually FTD but it can be misdiagnosed as AD. If the family has European blood this is likely. Was anyone tested genetically since 2012? ( when c9 testing became available) Are you close enough to the surviving cousin to find out? If they go to a clinic testing must have been discussed with the family history

 

[kdavis7]

Thank you Laurie and Nikki for your responses. It has given me some relief that there isn't any risk from my side of the family.

The family is of European descent and my mil did mention that there was some genetic testing within the family. She did not have the testing done. I'll have to ask her for more information.

Kim

 

[Nikki J]

Do be aware that as I noted there was no test for c9 before 2012. C9 is the most common genetic defect in FALS. If the testing was done much earlier it might only have been for sod1 but now there are quite a few different defects identified so if initial tests were negative it would be good to see if the cousin has been tested. Testing to find the problem defect needs to happen with an affected family member

 

[kdavis7]

Thank you for the additional information. I'll get my husband to reach out to his cousin.