[avgDev]

My mother has early onset alzheimer's disease. We currently know very little about the disease and the current treatment options are controversial. The efficacy of the medications removing the amyloid plaque from the brain is questionable, as people still decline.

What makes alzheimer's difficult is that it is not really a single uniform disease. There are subtypes.

Since my mother has it, I was presented with an option of a genetic test. There are several genes which increase your risk. However, if one has PSEN1 that will 100% guarantee early onset alzheimer's at some point.

I'm still on the fence if I want to know.

I really hope we get some viable treatments for this terrible disease. Early onset azlheimer's is awful. I cannot imagine having malfunctioning brain.

[nphardon]

How old is your mother? Iirc PSEN1 correlates to very early AD, like late 30s early 40s. My dad had full blown AD at 65, with serious cognitive decline starting at 63, and that felt very early to us all. My dad had no AD biomarkers on full genetic scan. My heart goes out to you and your family.

[avgDev]

She is now 63. Started showing symptoms at 61. Her sister died at 64 and her onset was in her 50s.

I am working with invitae to get her DNA tested. Unfortunately, her stage is considered moderate and very little treatment options.

[armadsen]

There are multiple specific possible mutations that cause 100% penetrant dominantly inherited early onset Alzheimer’s. And there are three genes where mutations can cause it: PSEN1, PSEN2, and APP. The average age of onset seems to depend on the specific mutation. In my (wife’s) family, onset is mid 40s to mid 50s. Some families get it even earlier, but 30s seems rare.

[marton78]

Give her -- and yourself -- lithium orotate. It's an asymmetric bet: it won't hurt, but very well might help. It has been found to be effective in murine models.

[xenonite]

Yes see Dr Nehls for this.

and keto, beginning with MCT oil

[armadsen]

It’s sometimes frustrating to try to explain that the gene mutation in the family (PSEN1 in our case) means it’s a 100% chance you get it. Most people have never heard of it, so you get a lot of “well, maybe you’ll be lucky and it won’t affect you!” from well meaning people.

I’m very sorry for what you’re going through with your mom. My father in law had it and died a year ago at age 64 after 16 years of decline. Watching a truly brilliant person slowly lose their faculties and abilities until they don’t recognize their own family is awful.

Two of his kids have the mutation (not my wife, thankfully) and so we all hope that better treatments are available for them.