4/4 & just learned older sibling has early onset

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
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apoe4homozyg
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4/4 & just learned older sibling has early onset

Post by apoe4homozyg »

Hi everyone,
I joined about two years ago when I learned I’m 4/4. I was terrified then and changed my diet a d quit alcohol. That lasted a few months. Then I sort of forgot about my genes and lived my life. Until yesterday. My sister who is 47 and 4 years older than I am was just diagnosed with Alzheimer’s. I’m terrified I’m going to get early onset Alzheimer’s too. My father just passed away from Alzheimer’s last year, but he was 79 and diagnosed in his 70s. Can anyone give me some advice on what to do? Should I get tested for the early onset markers? Is there any hope for me? I’m beside myself and kicking myself for not taking better care of my health these past couple of years when I thought Alzheimer’s might be coming, but not for a long time. Thanks in advance.
43 yo premenopausal female 4/4 with strong family history & sibling with EO
NF52
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Re: 4/4 & just learned older sibling has early onset

Post by NF52 »

apoe4homozyg wrote:Hi everyone,
I joined about two years ago when I learned I’m 4/4. I was terrified then and changed my diet a d quit alcohol. That lasted a few months. Then I sort of forgot about my genes and lived my life. Until yesterday. My sister who is 47 and 4 years older than I am was just diagnosed with Alzheimer’s. I’m terrified I’m going to get early onset Alzheimer’s too. My father just passed away from Alzheimer’s last year, but he was 79 and diagnosed in his 70s. Can anyone give me some advice on what to do? Should I get tested for the early onset markers? Is there any hope for me? I’m beside myself and kicking myself for not taking better care of my health these past couple of years when I thought Alzheimer’s might be coming, but not for a long time. Thanks in advance.
Hello again, my 4/4 friend.

I am so sorry that the last 2 years have brought the death of your dad and the news of your sister's diagnosis. Hopefully they also have brought you two years of love and support from your then fiancé and maybe now spouse. No one but you knows what you need right this minute--so with few exceptions, I'd say go for that self-care right now.

You're dealing with a profound shock to your picture of your future self, so one of the things I would suggest is imagining in vivid detail the counter-arguments to what your sister is experiencing. Here are some reasons why that is being more, not less, realistic:

Wide variability is the NORM, not the exception, among siblings with family history of Alzheimer's.
There is a wide discrepancy in AO [age of onset] in affected siblings that is not clearly explained by a single clinical variable or apolipoprotein E genotype.
Variability of Age at Onset in Siblings With Familial Alzheimer Disease

ApoE4 does not explain cases like your sister, which are far more likely to require multiple copies of rare variant genes, which could have happened spontaneously in her case.
Some families with early onset AD know which genetic mutation is responsible for their disease, but more do not. The three known [risk] genes together explain only half of all early onset AD. Frequently, neurologists at referral centers will see people with early onset AD who have no family history; those are called sporadic cases. Of these, some people, upon genetic testing, turn out to have a previously identified mutation in one of the three dominant genes. Others prove to have a different mutation in one of the three genes. More often, however, geneticists cannot pin down a cause, so the story of that person's, or family's disease awaits the discovery of new AD genes.
What Is Early Onset Familial Alzheimer Disease (eFAD)?

A study of families with multiple example of LOAD (like yours and mine) found a that a small percentage (about 25%) also had a family member with early-onset (EOAD). These were NOT families in which multiple members routinely had EAOD! Instead it indicated what one researcher called a "murky" genetic mix of genes that were not shared by all relatives.
...approximately 25% of the LOAD kindreds have family members with EOAD... An estimated 3 to 5 additional unidentified genes contribute to the development of LOAD.14 Although APOE ε4 plays an important role in lowering the age at onset in LOAD, clearly other genetic influences besides APOE contribute to the development of the disease
Early-Onset Alzheimer Disease in Families With Late-Onset Alzheimer Disease

I always feel better when I can drill down to get more information when the news is worrisome, so here's some questions you may want to think about asking, if it's possible:
1. Has your sister's diagnosis been confirmed by an academic memory care center using imaging studies (MRI and/or PET scan) to verify that she has the biomarker's of amyloid beta and tau seen in Alzheimer's disease? Given other conditions which might cause cognitive impairment, diagnosing her without a thorough workup could be problematic. At her age, I would expect that insurance would cover that and that memory care centers that specialize in EAOD would be able to do some work-ups and provide support networks for her and the family.

2. Is she or her immediate family interested in clinical trials? Here is a search result for currently recruiting trials. Some also include family members who might be interested in supporting research on genetic factors (You can be tested for risk genes and choose NOT to be told the results.) I am a member of a Clinical Trial Participant Advisory Board of the Alzheimer's Clinical Trial Consortium, so have access to some smart, caring people who know of clinical trials and support groups for EAOD participants and family members. Let me know if you'd like more info on ones in your area or your sister's and I'll PM you re that. Recruiting Studies | Early Onset Alzheimer Disease | Adult

3. You may be aware of pre-existing physical or mental health factors, environment or health history that would have increased her risk, which you don't share. You and your sister share at most 50% of your genes. If you think very broadly of your dad's genes at 50% from HIS father (A) and 50% from HIS mother (B) and your mother's genes 50% from HER mother (C) and her father (D), then theoretically, you could be B/C (maternal genes from both grandparents) and she could be A/D (paternal genes from both grandparents). Not likely it would come down so neatly--but my husband has twin brothers who are 10 minutes apart in age, 7 inches apart in height, and look exactly like respective ancestors from two unrelated families!

Finally, and best of all--Alzheimer's is not like COVID--it doesn't sneak up on you, even at young ages. It takes about 20 years for amyloid levels to rise enough in the brain to trigger tau, which then begins to do real mischief to neurons. It takes most people 4-7 years to move through mild cognitive impairment to early stage AD. You are not there--you're not even on the same genetic path.

If you want to reassure yourself, remind yourself of all you have been doing before you heard this news. You are the same person you were then. And will be 20 years from now.
4/4 and still an optimist!
apoe4homozyg
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Re: 4/4 & just learned older sibling has early onset

Post by apoe4homozyg »

Thank you so very much. I am crying with relief and hope. To answer some questions, yes she had an MRI and was diagnosed at the Mayo Clinic. They gave her a lot of tests. She’s having a lumbar puncture as well I think to confirm. I would like to learn more about EO. So many people are telling me to get tested for the markers. I really am not sure I want to know. The only reason I’d think I should is if a positive result would lead to early intervention. But if the only early intervention is lifestyle changes (not prescription/medical) then why bother? I’d rather just practice the lifestyle changes. Yes please PM me about trials. I’d like to know that info. Thank you.

I feel a lot better thanks to you. I’m still very frightened and sad, but I no longer feel doomed.
43 yo premenopausal female 4/4 with strong family history & sibling with EO
J11
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Re: 4/4 & just learned older sibling has early onset

Post by J11 »

apoe4homozyg, I am unsure if you are aware though the day that you first posted to this thread was the biggest day in the history of Alzheimer treatment. On June 7, 2021 the FDA approved the use of Aduhelm (aducanumab) in the treatment of Alzheimer's. This is the first disease modifying treatment ever approved for AD. The treatment apparently will begin to become available within 2 weeks.

viewtopic.php?f=4&t=6709&start=580

With such good news I would definitively not feel doomed. It is possible that the end of Alzheimer's is in sight. The aducanumab was developed from people who naturally developed aducanumab. These people typically never developed AD. Having low doses of aducanumab in your system over the life span likely would prevent AD from ever developing.

It might be worthwhile to make an enquiry about this treatment. The on label indication for Aduhelm is MCI or early AD, though possibly given the nature of the early onset in your family perhaps they might consider you for treatment. e44s can begin to accumulate amyloid in their 40s and Aduhelm removes this amyloid. Aduhelm is an extremely expensive treatment ($56,000) and when given in high doses can produce side effects such as ARIA (brain microhemorrhages etc.). If it were possible, then getting treatment early before massive amyloid accumulation could be cheaper and safer. It is not certain though whether this treatment plan would be allowed. Other more affordable methods are being developed to lower amyloid-- for example a gamma frequency light. Best Wishes J11
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Re: 4/4 & just learned older sibling has early onset

Post by NF52 »

apoe4homozyg wrote:Thank you so very much. I am crying with relief and hope. To answer some questions, yes she had an MRI and was diagnosed at the Mayo Clinic. They gave her a lot of tests. She’s having a lumbar puncture as well I think to confirm. I would like to learn more about EO. So many people are telling me to get tested for the markers. I really am not sure I want to know. The only reason I’d think I should is if a positive result would lead to early intervention. But if the only early intervention is lifestyle changes (not prescription/medical) then why bother? I’d rather just practice the lifestyle changes. Yes please PM me about trials. I’d like to know that info. Thank you.

I feel a lot better thanks to you. I’m still very frightened and sad, but I no longer feel doomed.
This may be of interest to your sister and a care partner (i.e. someone who has regular contact and is seen by her as a support person).
EPIC II - Early-Stage Partners in Care for Memory Loss and Dementia - Virtual.

Arizona State University, the sponsor of this study, has a very well-respected Alzheimer's research program and community-based support programs working with diverse communities and empowering people to make choices that meet their personal needs and preferences. Here's some of this info from the link below:
The purpose of this study is to assist individuals with early-stage memory loss and their care partners by providing free early-stage related education and sessions designed to reduce stress, enhance well-being, and help manage challenges. Additionally, Arizona State University researchers will gather feedback from participants about their experience to continue to improve programs for early-stage memory loss.
What is Involved:
The study will be conducted remotely, via telephone and videoconferencing. It is open to anyone within the United States.

Participating in this program involves:
Meeting others with early-stage memory loss and their care partners
Attending six group sessions online (2.5 hours each) to learn strategies to help handle new situations, reduce stress, improve mood, communicate better with each other, and plan for the future
One 90-minute individualized, session online to address specific issues that may be unique to your situation
Five 2-hour confidential, in-home interviews that involve questions about your background, mood, and quality of life
Each participant will receive up to $95 for completing all follow-up interviews, or $20-25 for each interview completed.
4/4 and still an optimist!
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