Dominantly inherited Alzheimer's runs in my wife's family and they've faced some similar experiences to those described in the article. Alzheimer's specialists treating her dad initially dismissed the risk of his kids getting it. The vast majority of AD patients don't have any specific known genetic predisposition for it, and among those that do have genetic risk, the most common is APOE mutations where your risk is increased, but it's by no means a sure thing you'll get the disease. The forms that are dominantly inherited and ~guarantee you'll get the disease are maybe 1% of total cases.
For that reason, even some Alzheimer's doctors seem inclined to treat people as if the dominantly inherited forms aren't worth worrying about until symptoms start. It took quite a bit of pushback and multiple doctors to find one that would refer him to be tested for a EOFAD (early onset familial Alzheimer's disease) causing gene. And of course, just as anyone in his family could have told you, he came back positive for a known pathogenic mutation with ~100% penetrance.
His kids, all youngish adults, are now in the process of deciding whether to get tested. But if they come back positive -- outside some clinical trials going on with the new antibody drugs (Lecanemab, Donanemab) -- there's nothing to be done other than wait to get it in your 40s or 50s, decline and die. It's a terrible, terrible position to be in.
For that reason, even some Alzheimer's doctors seem inclined to treat people as if the dominantly inherited forms aren't worth worrying about until symptoms start. It took quite a bit of pushback and multiple doctors to find one that would refer him to be tested for a EOFAD (early onset familial Alzheimer's disease) causing gene. And of course, just as anyone in his family could have told you, he came back positive for a known pathogenic mutation with ~100% penetrance.
His kids, all youngish adults, are now in the process of deciding whether to get tested. But if they come back positive -- outside some clinical trials going on with the new antibody drugs (Lecanemab, Donanemab) -- there's nothing to be done other than wait to get it in your 40s or 50s, decline and die. It's a terrible, terrible position to be in.