My wife's neurologist is one of the very best in Westchester,NY. That is why we drive over 50 miles to see him. He is so busy that getting an appointment is a "months in advance" kind of thing. So I was determined to see him today as scheduled despite the BLIZZARD. We are about half way to an expected 18 to 20 inches of snow. The Grand Cherokee came through again.
After one last discussion with the Dr. I have decided to go ahead with the genetic testing for Amyloid Protein Precursor (APP), Presenilin 1 and Presenilin 2. Sharon's AD was not entirely unexpected. Her mom died at age 59 and one of her grandmothers at 56... both from conditions the sings and symptoms of which paralleled Sharon's. Since the genetic markers I mentioned are Autosomal positive it only requires on copy of the gene to produce EOAD. We are not sure that Sharon's EOAD is familial but the history is damning. If it turns out that it is not then that is very good news for our daughter.
Is insurance paying for testing or are you? Just wondering how much it cost. We don't have any children, so that is not the reason. Just would like to know since it seems to run on his dad's side if there is a genetic component. His sister who was diagnosed at 55 in 2005 has children but don't know if they would want to know. I would think the more the can connect genetic to the EOAD, that would be another piece of the mystery.
Thunder--Hopes for the best coming atcha. At least, either way, your daughter will know and be able to plan accordingly. When the testing follow up from my CMT came back that no other family members had the error that was good--but that my daughter didn't have it was best. Since Sharon only had to have one copy to have EOAD, she might not have passed it either. Fingers crossed.
Thunder: Best of luck with the testing. You and your daughter are very brave. I know I do not have the courage to have the testing done with my DH. Not something that I can face for my children. Positive thoughts for you........
I hope that your wife does not have any of the eFad mutations. You are doing the right thing for your daughter. Best of luck to you.
My husbands family was in serious denial about it being inherited, despite my MIL dying from it and 2 out of 4 siblings getting AD at an early age. I had my husband tested since I felt it was important for our children and nieces/ nephews.
I finally was able to talk to my husbands siblings (who are at risk) educating them about familial Alzheimer's disease. The youngest sibling is going to be tested since they have young children and want to know how to plan their life (if they're a carrier).
I have been told testing can be as much as $1500 for each mutation. Most likely they will test first for PS1 since it represents 79% then APP at 17%, and finally PS2 at a very rare 4%. One other test I would suggest would be to check for APOE4, this can cause an earlier age of onset (5 years+/-) for those with an eFad mutation. Some Alzheimer's Disease Research Centers will pay for testing depending on their budgets.
I would highly recommend the book "The Thousand Mile Stare" written by Gary Reiswig. His family carries the rare PS2 gene.