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.
February 7th, 2018
Just back from my second NIH visit. and I've been feeling much, much better for over a month now :) No evidence of ALS yet, which is very good news. However NIH observed what they believe to be normal pressure hydrocephalus (NPH) or water on the brain. If true, the treatment is the placement of a shunt into the brain to drain the excess liquid away.
My appointment with my Kaiser neurologist is on Wednesday, and Dan will be coming with me. At that point I will learn if they plan to treat the hydrocephalus, and if so probably schedule a large volume lumbar puncture to see if the shunt will be effective. He's mostly coming to testify as to my cognitive decline as the balance issues and tremor will be self evident. A lot rides on this because if the shunt wouldn't improve things, Dan and I will just conclude that this might, in fact, be FTD. But I was reading the report about my MRI, they mentioned several areas of my brain that were damaged
On my last day at NIH, Dr. Floater, approached me and said she wanted me to have a copy of my MRI because it contained results that would be important to follow.
I received a letter at home addressed my neurologist asking them to explore the possibility of Normal Pressure Hydrocephalus based on my MRI. The mentioned in the first paragraph that I had a family history of FTD, which I thought was a bad sign. It did say they did not believe I had either FTD or MRI, and considered me an asymptomatic carrier of the C9ORF72 mutation.
My Kaiser neurologist said I had no symptoms of NPH, but she believed what was noted in my MRI was most likely early signs of FTD 😡😭 At this point Kaiser had lost my MRI, so this was based on the NIH description of my MRI. I had another and will next undergo neuro-cognitive testing before she'll see me again, but I've begun to feel very pessimistic about the whole thing 😓😢😪😭
I'm guessing this bad news will only continue :(
I've changed my mind about what is likely to happen next. I believe there will be no change in my MRI and they will say they can't do a diagnosis for something that is not progressive. If that is the case, I'm just going to forget this whole testing shit until there are definite symptoms. This is just too hard on my emotions and I've become somewhat unstable in my moods. Enough is enough!
February 2, 2019
And life goes on. I've had my third and final visit at NIH, and have only a telephone interview in June remaining. Although they have observed my tremor and balance worsening on every visit, they concur that it is not NPH. They had a tremor specialist who informed me that tremor can indeed be a symptom of ALS, and further identified my tremor as a central tremor (even my tongue has a tremor, as do my cheeks and lips) and this can be associated with ALS or MND. But they still classify me as pre-symptomatic for both ALS and FTD. This is excellent news, of course, who wants such a diagnosis with the accompanying 2-3 year lifespan. There are therapeutic clinical trials going on now, for which only symptomatic folks qualify, and further they only take patients within 18 months of onset. It scares me that I might have an atypical set of symptoms, a true cure will be developed, but I won't be diagnosed till it's too late for a cure. There's current talk of such a cure for SOD1 cases, and they'll test C9ORF72 next.