Home Safety Checklist

ANNOUNCEMENT: ALZConnected will be temporarily unavailable beginning Monday, April 3 at 9:00am CT until Wednesday, April 5. During this time, we will be transitioning ALZConnected to a new platform. Members will be able to access the new platform by the end of day, Wednesday, April 5. Click here to learn more.

RSS Feed Print
Psen testing
Posted: Tuesday, May 26, 2020 11:07 AM
Joined: 5/26/2020
Posts: 1

     Hi,  this is my first post here.

My mom developed early onset when she was in her early 50's.   Her sister when she was in her late 50's.  

Now that I'm 50, I am very concerned about whether or not I have inherited the gene for EOA.

I have noticed that I struggle for the right word more than I used to as well as remembering things that I could call up quickly not that long ago.

I would like to see if I have the abnormalities associated with the PSEN1 but I really would not like to go through my health care provider to do so.  

Is it possible to get the test without going through a physician?


Iris L.
Posted: Tuesday, May 26, 2020 12:39 PM
Joined: 12/15/2011
Posts: 18723

Many medical conditions can cause memory loss at your age.  A thorough medical and neurological evaluation with appropriate blood tests is indicated.  Your primary care provider can begin this evaluation.  I don't know if the genetic testing can be obtained without a doctor's order.  Most early onset is not due to presenelin gene. There are several good threads regarding the presenelin gene on this and the YOAD board, if you do a search.  Also, check your medications for memory loss side effects.


Iris L.

Posted: Thursday, May 28, 2020 4:57 AM
Joined: 5/22/2020
Posts: 9

Are there more relatives who may had the disease or just your mom and your aunt? Because most people with early onset ad(60%) have a family history but actually they have a family history of late onset Alzheimer’s and in the majority of cases there is no genetic mutation or autosomal dominant pattern, but with a early onset family history it’s a bit different and there are higher chances that it’s the autosomal dominant type. So that’s why it is important to know if your mother and your aunt are the only affected or if there were some other relatives who had the disease.
Michael Ellenbogen
Posted: Thursday, May 28, 2020 7:52 AM
Joined: 11/30/2011
Posts: 4500

My suggestion to you is before you start digging into this to insure you have good life insurance in place and insurance to cover Assist living if need and more. If you get a diagnose first you will not be able to get it. I would also get insurance to cover loss of salary. 

Posted: Monday, June 1, 2020 10:43 PM
Joined: 11/2/2014
Posts: 2

I was just diagnosed with Alzheimer's in late April I believe, Had an MRI on 5/4 with Generalized Atrophy. I am so confused as to what my next step is to be. I know I have to get my affairs in order, have discussed this with my daughter & adult grand kids. Have to get a POA & Living Will completed & Notarized. The kids say they will not let me go to a Nursing home, but I want it in writing that I do go to one when I become incompetent.  

I am 68 have been single for many years & not very social anymore. 

Also I want to get rid of as many things as I can so as not to leave that burden to the kids & to insure that certain ones get certain things. I have dealt with OAB for years, but am finding it even worse the past few months.  Half the time I feel like I am in a daze. Is that normal?

Other conditions I have are PTSD, Sleep Apnea, Cervical Dystonia. Essential tremors. CHF, Thyroid issues (had mine surgically removed & on Synthroid) Also I have a small mass on my Adrenal Gland.  I had recent blood work done, Thyroid levels are good, Cholesterol is great, but shows low protein, though I feel I eat the right kind of meat, have dairy frequently, though not much of one for milk though I do have my nightly cereal snack. Also I have sleep Apnea which I used a C-Pap & oxygen for at night.

Lately I have been getting Charlie Horses in my feet & legs, which I elevate when I go to bed due to Edema.

If anyone could shed some light on all of this it would be greatly appreciated because so much of what I read just isn't registering unless it is put into simple layman's terms.

I may even be on the wrong page as I find this one of the most confusing sites I have tried to figure out & not sure how to start a new page or post. 


Iris L.
Posted: Tuesday, June 2, 2020 9:38 PM
Joined: 12/15/2011
Posts: 18723

Welcome Deb.  I'm sorry you have received this diagnosis. You also have other conditions that might impact your cognition and memory.   Continue to do as much as you can to treat those other conditions.  The progress of each person with dementia (PWD) is individualized.  Meaning, no one can predict how fast symptoms will appear or change.  You have some time to make changes, if you need to.  

To post your own thread, go to the main page, then click on "I Have Alzheimer's" message board.  Then click on the green tab at the top that says "Add Topic".  Type out your message, then click Post.  Post often.  This board is slow, but someone will respond.


Posted: Friday, July 3, 2020 3:37 PM
Joined: 2/17/2019
Posts: 379

I suggest contacting DIAN, the dominantly Inherited Alzheimer's network, they were fantastic.


They will explain what everything will mean, and they will suggest that you get insurance in place before you receive the _RESULTS_ of your test.

The awesome thing about DIAN is that you can join a clinical trial without finding out what your status is. They have a third party do the test, if you test negative, you will be part of the control group ( you will get a sugar pill)


 If you test positive, your name will go into the hat to get either the  Active drug or a placebo.

With DIAN, because so many people do not want to know their status, they have a large pool of people willing to be in the trial.

 The trials I was looking at had a 2 to 1 ratio, meaning that If I tested positive,  I would have had a 2/3 ( 66%)  chance of getting the active drug and only a 1/3 (33% ) that I would be assigned to get placebo (sugar pills).

Other trials were 50/50. DIAN is specifically about Early Onset or Younger Onset, that's their focus, so you don't have the filter out all the stuff that won't apply to you because you are younger.