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What is known: My grandfather was the first confirmed case of ALS in my family. He got it at age 62 and was dead by 65. It was a rare disease at the time, known only by those who knew it as Lou Gehrig's disease. My grandfather was a doctor so diagnosed himself but sought confirmation from a colleague and history has also confirmed his diagnosis. My father developed symptoms at age 59 and died at 62. At that time they told us it was a coincidence that father and son had died of the same rare disease, but we all had our doubts. My sisters and I took comfort at the time that it seemed to strike males more than females -- another fact that was not true.
It's not clear when my second-oldest sister started showing symptoms and we never suspected ALS since her presentation was so different from the two men in my family. What we've learned since is that ALS can manifest in two entirely different ways, but they are both caused by a mutation on the ninth chromosome, C9ORF72. My sister was first thought to be depressed, then it was low thyroid, then Lewy Body Dementia, and when the family history was factored in, she was diagnosed with Fronto-Temporal Lobular Dementia or FTD. This turned out to be the purely cognitive side of ALS, whereas my father and grandfather had no cognitive decline at all. With my sister, the cognitive, behavioral and verbal side came long before anything involving her muscles. Even now, when she is getting end-of-life care thru hospice, her muscle-weakness doesn't present as much of a problem as her complete inability to communicate. A genetic test confirmed, on 11/7/16, the presence of the mutated gene C9ORF72, and also provided a gene to be searched for in the children and siblings of my sister.
I then searched for a clinical trial that would test my DNA as well, and found a trial run by the Mayo Clinic out of UCSF, which was relatively close to me. My eldest sister and I were accepted into the trial and began three days of grueling, intrusive testing at the end of February and we received the results March 22. My sister tested negative for the mutation, but I was not so fortunate. At 56, I now know I'm likely to develop my first symptoms within the next two years and will be dead within the next five years.
The call itself giving me the bad news was something I will never forget. Tomorrow will be exactly two weeks later and the same person is making a follow-up call to check on me. I'm not looking forward to that. I find myself in the position of being perfectly healthy but also dealing with others as though I have a terminal illness. People write to express how sorry they were to hear my news and wanted to make sure I was okay. It's made me feel like a patient and rather delicate, while at the same time being very healthy.
Just had the follow up call from the Mayo Clinic and ended up feeling worse. Not sure why. She said journaling was definitely the way to go with my sad feelings rather than upset Dan.
Less than one month later and I'm now doing better than Dan. He says it all seemed unreal at first, but now we've started doing things together -- walking the dog, going to the gym -- he's realized he'll eventually be doing those things alone. 😭
Now four months have passed since learning of my mutation. I joined another clinical trial, this one out of NIH in DC. It's a well-funded trial (for people already known to be C9 positive) and they fly two people out there, put us up at a hotel, and give us each $30 a day for food, so I believe I actually came out ahead financially. It was a rough three days, tho, and I was emotionally wiped out after that. For this one I have to go back in six months and do the whole thing again. There are things they observed this time that they want to follow up on such as my tremor and some atrophy in my brain. Hopefully, those two things will remain stable for the next study.