uterus_probz

Not the person you responded to, but in my experiences observing genetic counselors/studying genetics, people with known PSEN1 mutations typically have a strong family history supporting early onset Alzheimer's so I'm guessing he opted for testing (sometime in his adulthood as this type of testing would not be recommended for anyone < 18) and has known for a bit. I'm guessing that's the case here as they know he is exhibiting symptoms and if the mutation was not known to him, it may be written off as "being spacey," etc. It's also difficult to test people for Alzheimer's mutations without a family history present because insurance companies tend to not want to cover it unless there's definitive proof that it may be a concern for the person being tested.

That being said, everyone's experiences are different and maybe he got tested after exhibiting symptoms/is the first in his family to be tested. In which case, it's awesome that clinicians in his area are able to be proactive. But all of this was written to say that, unless there's a strong family history of dementia (esp. early onset), you are at a low risk for developing early onset Alzheimer's.

Hi! It's very nice to read your story. I was wondering if you/your parents ever saw a genetic counselor and what that experience was like for you/them? Also, do you think you'll have children? And if so, would you want your spouse to get tested to see if they happen to carry the trait (even though it's incredibly rare)?

Then for fun: what is the best book you've read at this point in your life? If you're not into books, favorite movie you've watched? Thanks for doing the AMA! I hope you continue to not need a liver transplant for a while!