Waiting.....

[Waitinginmichigan77]

Hi everyone ....I have read all of your posts and it is heartbreaking...I wouldn't wish this disease on my worse enemy..here is some background on me. I am a 37 year old female with a history of familial ALS. My grandfather, aunt and an uncle have passed and most recently my father in November last year and my brother on April 12th this year, he was only 41. Last week I had genetic testing done to see if I have it or not. The waiting sucks! The odds for me are 50/50. I have 2 children ages 14 and my daughter will b 11 next week, got remarried last year to the best guy in the world. The only encouraging thing is I have no early signs of the disease yet. I'm so scared. No one besides family knows I'm being tested, don't want the sympathy and the pity. Thanks for reading, any info anyone has would b awesome to hear. I have been trying to search if it skips a generation, but not finding anything promising..

 

[Nikki J]

Hoping you are negative. What is your gene defect? There is a lot of research going on for FALS especially C9 and there are going to be trials of gene blocking for c9 and sod1 coming up. Please please if you are positive( I hope not) consider being part of research. I think a lot of our answers may come from studying the presymptomatic people. If your gene defect is c9 there is at least one study that is looking for gene negative family members too.
Penetrance meaning the likelihood of a gene carrier getting the disease is variable so the possibility of skipping depends on which gene

 

[Waitinginmichigan77]

It is SOD1 that my family carries that is what I am being tested for. And yes I am praying for negative everyday... If it is positive that was my first plan was to contact a research center while I am still healthy and able, I will do whatever I can.

 

[Nikki J]

For sod1 preFALS the big study is out of Miami and they also have a new arm in California. They are studying all the gene defects and it has been going on for a while so they have collected a lot of data on sod1 I think.

 

[Waitinginmichigan77]

That sounds like very good news...thank you for that information...