Old 05-31-2016, 09:06 AM #1
Dylan Dylan is offline
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Default Familial ALS research

We have a long history of ALS in our family, dating back at least 4 generations (losses include my mother, grandfather, great grandfather, and many distant relatives). I was surprised to know that my family didn't have much documentation or research to pass along to me when I was diagnosed. My mother and her cousins were tested for gene mutations and were positive for the SOD-1 mutation, yet it seems none of my family remembered what gene mutation we have... Luckily one of my moms distant cousins had done some research and kept the gene mutation record. I'm currently enrolled in the Biogen clinical trial specific to the SOD-1 mutation. If I wouldn't have continued to pry into the family history, I would have never known what gene mutation I had and possibly would have missed out on this clinical trial opportunity. Recently I've talked to a few folks that have FALS in their family and haven't been tested for a gene mutation. Get tested for your families future!

I'm putting together a binder of all of my medical records, the gene mutation, everything I'm doing, diet, etc. I suggest for all that have familial ALS to do the same. Ask your doctors for copies of everything. Document everything you try whether its Methylcobalamin B-12 injections, coconut oil, diet, cannabis, supplements, etc. Make a few copies of everything and give it to a few family members. It's overwhelming to be diagnosed with ALS, and many don't know where to start. I'm worried for my kids and other family members. At least having some documentation, (and thoughts on what helped and what didn't help slow progression or treat symptoms), would help the newly diagnosed in the family. They'd know which clinical trials to look for and have a starting point for what to try.

The good news- I along with a lot of ALS researchers think they're close to figuring out a gene therapy treatment. More clinical trials are on their way and I have high hopes for the SOD-1 trial I'm in.

Also, keep track of you and your families symptoms and progression. I recently had a distant cousin my age pass away within 6 months of his first symptom... My symptoms were the same, left quad weakness. This scared the hell out of me when I found out. I thought 6 months was all I had. Yet here I am 6 months later still walking (some may call it hobbling around), talking, breathing, and still enjoying life. I want to document this so that others down the family line will know that progression can vary from one family PAL to the next.

When I was diagnosed, we decided to get the crying and grieving out within 2 weeks. After that, we were going to fight and stay positive. I believe this has helped. We still have our crying moments, but overall stay positive and full of hope. I believe having a familial ALS journal will help future family PALS to stay positive.
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Old 05-31-2016, 09:35 AM #2
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Nikki J Nikki J is offline
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Default Re: Familial ALS research

I completely agree if you are FALS and diagnosed to get gene tested if your family mutation is unknown so that your family knows what they are dealing with and to give the documentation to some responsible person with instructions to provide the information/documentation to anyone who is potentially at risk. I say that because there have been cases where the spouse of the FALS PALS has either died without sharing or, incredibly to me, refused to provide the information or access to medical records

Finding out the mutation is a gift to your family giving them a jump start to treatment if they are symptomatic and the choice of testing if they are not. If you know you are a member of a FALS family there is no down side to having an identified gene. You then have the power of choice. Without testing you know your risk still but have no choice.

Depending on when your mom was tested it might have been sod1 was the only testable gene so she could have thought knowing she had THE gene was enough.

It is very very very true that presentations can vary among family members. So true that in my family. As far as I can tell even response to various supplements etc seems to vary among members

Last edited by Nikki J : 06-14-2016 at 06:03 PM
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