Ironically, we received the test results for the dna testing that we did a few weeks ago. Results: Analysis of the PSEN1 gene did not identify any abnormal DNA sequence variants in the coding region and intron/extron junctions for this gene and is thus interpreted to be NORMAL. Therefore, this individual is unlikely to be affected with, or be predisposed to develop early onset Alzheimer's due to mutations in the PSEN1 Gene. It also indicates that dominant mutations in three different identified genes, PSEN1, PSEN2, and APP could possibly increase the risk of EOAD.
Their conclusion: Nothing My Conclusion: What the heck is going on??? Do they really know anything about EOAD?? And this test costs HOW MUCH???
Cause of death- loss of blood (real reason- shot in the heart) Cause of death- Failure to thrive (real reason- did not eat for 37 days, nor drink for 5) Cause of drowning- Inability to breathe (real reason- drowned) Cause of death- Failure to live (real reason- ANY) Cause of death- Heart failure (real reason- cared only about himself- had no heart at all... Cause of death- Liver failure (real reason- he was drunk and an alcoholic Cause of death Self inflicted wounds Real reason- he was a drunk roofer, and fell off a roof..... I am sure there are more.... I think I am going to try to get all my lab rats back......
Phranque* at least she didn't have the genetic muation KNOWN to cause EOAD and is hereditary. They just don't know if the other mutations might be contributary or not. A possible contributing factor is still better than a known cause. And remember, she couldn't have passed on the Known one, and may not have passed on the questionable ones. Until more is known, I'd plan to live long and prosper, but invest in good Long Term care insurance, just in case. After all, other crap could happen. Who knows.
My hb's neuro said aPoe4 is the one to look for - having it would be the indication of a 50% chance of getting it. Since it runs in his family if we ever get the money that is the one she will test for. Right now do not have the $800. And the testing is not for us as we do not have any biological children. The test would be to find out if he does have, then his nieces would know whether to have the test. If my hb has it, it is likely his sister has it too. If he doesn't then they would know they have no more chance than any one else.
Aren't those DNA tests supposed to come with some counseling? Here is a site that does a reasonable job explaining the DNA risks, and the imprtant fact that it is not just genes but environmental factors that contribute to the risk: http://www.nia.nih.gov/Alzheimers/Publications/geneticsfs.htm
My reaction is similar to Carosi's. Since there are two types of EOAD, one of them being "familial", it sounds like the first result meant Audrey didn't have that. So she couldn't have passed that on to your kids.
The second result may be related to the other form of EOAD, about which less is known.
I agree that there should be someone available to explain the results. Did your insurance pay for the testing? A few years ago, I was told that insurance did not pay for it.
My daughter made all the arrangements for the testing..I was told that it was covered by medicare..and No the dr did not explain anything...but we have the brain bank, and athena diagnostics working together to research this..I suspected familial eoad, since audrey's mother also had alz...We had to rush things because we could not get her to a lab for the bloodwork...we actually had someone come in to draw the blood... So, that was her last parting gift to us, and we will try to gain some information from all this when all the reports come in. And even then, I still think there is a lot of guesswork involved, and I doubt that even these tests can predict the future with absolute certainty.
Frank - I will have to get hb in to a Medicare doctor (he goes to the VA for medical but just got Medicare) and see if they will cover the genetic testing.
Frank--Steve's Dad had EOAD, but although Steve was dx at 60, his neuro doesn't think he has the familial kind due to his slow progression. I think you mentioned Audrey survived 10 yrs from dx, so that sounds like a similar situation. Another reason to believe it wasn't the familial version of EOAD.
A commercial genetic testing company, 23andme.com, is offering free testing for people diagnosed with Parkinson's as part of a research project. They also test for genes related to Alzheimer's and many other illnesses. Their testing is not as thorough as some in checking all the variants, but the cost is lower--about $200.