New Member with a Question about Testing

[SteveA]

I am a new member who found this website through Dr Bredesen's book. My father developed dementia in his early 60s and died at 65, he also had Type 1 Diabetes. The doctors said that he had vascular dementia. Earlier this year my older sister (aged 64) was diagnosed with Early Onset Alzheimer's which alarmed me into getting tested. I'm 62 and next in line. I did the test through 23andMe and found that I carry APO e4 (3/4). I also downloaded the raw data and uploaded it to Promethease and received that report. Promethease advises its users to verify the test through an independent lab. In reading through some of these postings, it appears to me that most people rely on the data from 23andMe without further testing. My question is whether further testing is really helpful or are results from 23andMe and Promethease sufficient.

[NF52]

I am a new member who found this website through Dr Bredesen's book. My father developed dementia in his early 60s and died at 65, he also had Type 1 Diabetes. The doctors said that he had vascular dementia. Earlier this year my older sister (aged 64) was diagnosed with Early Onset Alzheimer's which alarmed me into getting tested. I'm 62 and next in line. I did the test through 23andMe and found that I carry APO e4 (3/4). I also downloaded the raw data and uploaded it to Promethease and received that report. Promethease advises its users to verify the test through an independent lab. In reading through some of these postings, it appears to me that most people rely on the data from 23andMe without further testing. My question is whether further testing is really helpful or are results from 23andMe and Promethease sufficient.

Hi Steve!
Here's a quick answer to your question, and then some more thoughts--for whatever their worth. I discovered my ApoE 4/4 status from 23&me, and then had it confirmed on 3 separate genetic tests done as a part of a clinical trial I am in for healthy people ages 60-75 who have either ApoE 3/4 or 4/4. The reported accuracy of 23&me is above 99%, if I remember correctly. Like you, I also downloaded my data to Promethease, which showed some interesting protective genes (and greatly reassured my two sons when it said I didn't inherit my dad's early baldness gene!) Since most of the suggestions on this site are for things that make sense for almost anyone, and since the research on additional genetic risk and protective factors is still far from settled, I've chosen to go with what I know.

The rest of your story strikes a chord:
I'm sorry to hear that your dad developed vascular dementia as such a young age and died at 65. My dad had Type 2 diabetes diagnosed when he was 44. At that time (1960's through mid-1980's) the link between Type 1 and Type 2 diabetes and cardiovascular disease wasn't understood. Vascular dementia was referred to often as "hardening of the arteries due to old age" or "mini-strokes". MRIs of the brain to see the damage of vascular dementia weren't a thing; even CAT scans weren't used until the 1990's. My dad died at 67 from cardiac arrest, 8 months after quadruple bypass surgery which was assume to have fixed his heart problems. He had started to show some minor cognitive issues around that time. Six months after his death studies came out recommending aggressive screening of diabetic patients for silent angina and stricter monitoring of blood glucose.

I would guess that your dad's death from what was the downstream effects of his diabetes on his heart and brain when you were probably a young adult has led you to have much better heart health, which has meant you also likely have much better brain health. I really wanted to know my heart health, so paid for a coronary calcium scan two years ago to see if I too had silent heart disease. It came back with zero calcium and a reassuring "cardiac age" of 39, when I was 65. Best $150. I've spent in a long time!

Your older sister is also obviously a very sad diagnosis, and probably leaves many family members feeling like their world just shifted on its axis. I hope her immediate family is seeking support from the local Alzheimer's Association, which has wonderful programs and suggestions for those with "early-stage" Alzheimer's and their families, and often local opportunities for social support, exercise and nutrition counseling.

I wonder it there is a possibility of mis-communication having happened around the wording of her diagnosis because some very similar terms are used for very different diseases. Early-Onset Alzheimer's Disease (sometimes referred to as EOAD) is typically diagnosed well before the age of 65 and runs in families who often have a history of males and females with diagnosis in their 50's or even late 40's. There are a few genes that have been implicated in EOAD, and while ApoE4 is sometimes seen with this diagnosis, it is far more likely to be seen in LOAD (Late-Onset Alzheimer's Disease) at age 65 or later. Given your sister's age of 64, I wonder if she was diagnosed with the "Early-Stage" of LOAD, sometimes called "mild Alzheimer's". Here's a list of typical symptoms seen in the Early Stage, according to a January 2019 article by the National Institute on Aging.

In mild Alzheimer’s disease, a person may seem to be healthy but has more and more trouble making sense of the world around him or her. The realization that something is wrong often comes gradually to the person and his or her family. Problems can include:

Memory loss
Poor judgment leading to bad decisions
Loss of spontaneity and sense of initiative
Taking longer to complete normal daily tasks
Repeating questions
Trouble handling money and paying bills
Wandering and getting lost
Losing things or misplacing them in odd places
Mood and personality changes
Increased anxiety and/or aggression
Alzheimer’s disease is often diagnosed at this stage.

NIA: What Are the Signs of Alzheimer's Disease?

It's possible, of course, that she is ApoE 4/4, or had other additional risk factors from genes, environment, other health conditions etc. The biggest difference between men and women is the drastic reduction of estrogen after menopause, which some researchers are beginning to study with women in their 40's to 60's. You might suggest that your sister's family have her evaluated with comprehensive blood labs by a university memory care clinic, which would be covered by her insurance (or Medicare once she is 65) or her own doctor. Those tests might show areas that could benefit from immediate support.

My husband recently found out he had low thyroid, although his symptoms were mild enough he didn't "feel" it. Once he got on medication he lost about 15 lbs and had more energy. Dr. Bredesen and the Clinical Director of my Research study both want Vitamin B-12 above 500, even though "normal ranges" are often listed as 200-900. When mine were in the 400's, I added an easy daily lozenge of 500 mcg of methylcobalamin (the other version of B-12 isn't absorbed as easily) and now it's in the 600's and I feel a better level of mental alertness. (The grandchildren may get some credit there also!) Vitamin D3 is another area that may be important for women in their 60's, with level of 50-75 probably optimal. If your family can help your sister to enjoy aerobic exercise, it should help her heart pump blood more efficiently, while strength training may minimize the risk of falls. Both are well-supported in research as showing benefits for people with early stage AD. And if she's like most women I know, social outings with supportive friends, favorite hobbies, trips to places where she can enjoy nature, museums, concerts at her own pace without a lot of noise and confusion are all likely to help her maintain or improve her quality of life.

For you, Steve, I'd recommend our Primer as a great overview of "low-hanging fruit" strategies to stay healthy, and our "How-To" Get the most out of the ApoE4.info website guide as a quick reference for how to quote people so they see your replies, how to search topics, and how to enjoy a community of people like you who are invested in helping themselves and others stay healthy!

I hope this community is one you find both supportive and informative, and that you feel free to jump into any conversation or post any question. Hugs from someone who could be another genetic older sister.

[SamNZ]

Hi Steve, Welcome I home NF52 has helped to answer some of your questions, please as she suggested look into the primer, for more specific topics it is also worth looking through the Wiki as an amazing source of information on particular topics, it is all written and updated by members and so has a heap of different people contributing to the site. If your questions are not answered please just ask again in the forums as there are lots of people who have lots to contribute in this site. Welcome again SamNZ

[SteveA]

NF52, thank you so much for your response and warm welcome. I have read through some of the Wiki and the Primer but hadn't found anything that answered my question about follow up testing directly. Your response has been very helpful. My sister had to leave her medical practice about a year and a half ago due to challenges with her memory, she was 62 when symptoms started showing. Her doctors believed that she probably had normal pressure hydrocephalus but none of the testing provided positive results. Then she started having seizures which confused the picture even more. Finally she was able to see a neurologist who specializes in the treatment of various dementias and it was this person who gave the diagnosis of early onset Alzheimer's disease following a PET scan. I don't know what blood tests she may have had as I don't live near her. She's in the Dallas/Fort Worth area and is well connected to the medical community there as she's had a successful OB/GYN practice for many years. I only say that to indicate that she's in a community with excellent medical services. I wouldn't be surprised by an ApoE 4/4 status as all of my grandparents and aunts and uncles on both sides of the family had or have dementia in their later years, for those that lived beyond 70. In doing genealogy research I've even found evidence of a great great grandfather who had dementia at the end of his life. It seems this runs strong in our family though my father and sister are the only ones who've suffered from memory loss early. Again thank you for your support and I'll happily add another older genetic sister to the family tree! SteveA

[SteveA]

SamNZ, thank you also for your warm welcome to the group and advice. I will continue to review the information in the primer and Wiki for some guidance in how to proceed from here. I've already talked with my doctor about all of this prior to testing and will continue to work with him as well. Thanks again, SteveA