NothingButLove
Distinguished member
- Joined
- Dec 25, 2016
- Messages
- 106
- Reason
- Lost a loved one
- Diagnosis
- 11/2016
- Country
- US
- State
- CA
- City
- Anaheim
I got a call from the doctor at the clinic today. She reported the results were back from genetic testing. My wife has the defective C9orf72 gene. I have so many thoughts running through my head right now. I could create one big scatterbrained, disjointed post. It's probably best to tackle one idea at time. So...
Nikki J - What can you tell me? Clinical trials / research targeting C9orf72? Are you and my wife related through a very distant viking from Finland? I've watched the video from Ohio State University "A Users Guide to Genetic Testing in ALS" so I understand the ramifications of the results. My ultra basic understanding of C9orf72 is that there is a repeat expansion in the intronic section of the gene.
My brains are scrambled right now... I can't focus.
Just a little background on my wife. She first started showing symptoms in January, 2016. She had just turned 57 at the time. She was diagnosed November 21, 2016. When the doctor asked if my wife had anyone in the family with ALS, she said, "No". Three days later at Thanksgiving a family member said, "O', your first cousin passed away from ALS in 2011." I knew it had to be fALS at that point.
This is such bitter sweet news. On one hand, it's hard not to get excited when reading articles like this one:
The ALS Association
It may be a false hope. It may be a cure for the next generation. However, the thought of even the slightest possibility of a "cure" feels so good.
On the other hand, it's potentially devastating news for the family.
Enough for now...
Rob
Nikki J - What can you tell me? Clinical trials / research targeting C9orf72? Are you and my wife related through a very distant viking from Finland? I've watched the video from Ohio State University "A Users Guide to Genetic Testing in ALS" so I understand the ramifications of the results. My ultra basic understanding of C9orf72 is that there is a repeat expansion in the intronic section of the gene.
My brains are scrambled right now... I can't focus.
Just a little background on my wife. She first started showing symptoms in January, 2016. She had just turned 57 at the time. She was diagnosed November 21, 2016. When the doctor asked if my wife had anyone in the family with ALS, she said, "No". Three days later at Thanksgiving a family member said, "O', your first cousin passed away from ALS in 2011." I knew it had to be fALS at that point.
This is such bitter sweet news. On one hand, it's hard not to get excited when reading articles like this one:
The ALS Association
It may be a false hope. It may be a cure for the next generation. However, the thought of even the slightest possibility of a "cure" feels so good.
On the other hand, it's potentially devastating news for the family.
Enough for now...
Rob
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