Hello! New here. Probably the start of many questions :)

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
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Kirsti
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Hello! New here. Probably the start of many questions :)

Post by Kirsti »

Hi there! I’m Kirsti from Australia and are going through the Bredesen assessment process right now with a Bredesen GP trained in NZ. I will get my full report towards the end of August, I think. Looking forward to it!

I’m getting results back in dribs and drabs and I just got my Apoe status yesterday- I’m apoe4/3.

My mum, her sister, her mother and her mothers sister all got early onset but have never been genetically tested, to my knowledge. My great grandmother got LOAD, in her late 80s. All of these women are on my maternal side of the family.

I’ve read the primer and my main question is can you have FAD (PSEN1/2) and APOE4? I’m wondering if I have left a stone unturned…. In my risk discovery process.

Grateful for your help.
Kirsti
NF52
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Re: Hello! New here. Probably the start of many questions :)

Post by NF52 »

Kirsti wrote: Tue Jul 12, 2022 4:20 pm Hi there! I’m Kirsti from Australia and are going through the Bredesen assessment process right now with a Bredesen GP trained in NZ. I will get my full report towards the end of August, I think. Looking forward to it!

I’m getting results back in dribs and drabs and I just got my Apoe status yesterday- I’m apoe4/3.

My mum, her sister, her mother and her mothers sister all got early onset but have never been genetically tested, to my knowledge. My great grandmother got LOAD, in her late 80s. All of these women are on my maternal side of the family.

I’ve read the primer and my main question is can you have FAD (PSEN1/2) and APOE4? I’m wondering if I have left a stone unturned…. In my risk discovery process.

Grateful for your help.
Kirsti
Hi Kirsti,

We hope you ask as many questions as you like here! This is off-topic, but I hope you don't mind if I say that many of us here in the U.S. look to Australia as a beautiful, diverse, amazing place to live--and my DNA reports say I have 5th cousin or two there, whose ancestors took a different route from Scotland or Ireland. A daughter and a cousin who each spent a few weeks there came back with stars in their eyes!

I'm assuming you're wondering if your mum, your aunt and their mothers all had the PSEN1 gene for Early Onset Alzheimer's Disease (EOAD) and could have passed it on to you, along with ApoE 3/4. For those reading your post who aren't familiar with EAOD, here's a link to raredementiasupport.org, a UK-based organization whose website appears to have helpful information and resources. They point out that these rare dementias that cause what is sometimes called FAD (Familial Alzheimer's disease) is not the same as having a strong family history of people who developed Alzheimer's generally after the age of 65 in Late Onset Alzheimer's Disease (LOAD). PSEN1 is one of several genes that can cause EAOD, which typically causes cognitive impairment in the 40's or 50's, sometimes earlier.

Here's an excerpt from the website about the inheritance:
If someone has one of the gene mutations that cause https://www.raredementiasupport.org/about-us/, then each of their children has a 50% chance (1 in 2 chance) of inheriting the faulty gene....An affected parent could have all children affected or unaffected, or a mixture of both. FAD affects males and females equally.
Understanding FAD

Have you been able to confirm that your mother and her relatives had a PSEN1 mutation, or are you thinking they might have had it? Simply having several female relatives with dementia in their 50's, 60's or 70's would not mean they had PSEN1; it could mean that perhaps some of them had ApoE 4/4, which can result in earlier and more rapid decline (thought not always!) or can result in vascular dementia due to coronary artery disease. My maternal grandmother died of a stroke at age 45. My mom and four of her five sisters died with what was likely mixed vascular/Alzheimer's, with histories of high blood pressure and/or min-strokes or heart attacks prior to dementia. One of her brothers died of heart disease; another developed Parkinson's. In their big family, the ApoE 4 genes effects hit both women and men, although the women had the effects earlier (in part due to hysterectomies and the effect of menopause).

If only the women in your mother's family showed a "young" onset of dementia, it might suggest that they did not have the PSEN1 gene, but had the extra burden of ApoE 4 sometimes seen in women.

I don't know if "regular" genetic testing screens for PSEN1, but if you haven't been screened, I would think your family history would support a referral to a genetics counseling center.
As for ApoE 3/4, I have three adult children with that and have high confidence that their lives will be longer and healthier than my mother's or her sisters, simply because we know so much more about healthy living and monitoring for cardiac or other risks.

Hugs from someone probably old enough to be your mum and still doing fine at age 70 with ApoE 4/4!
4/4 and still an optimist!
Kirsti
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Re: Hello! New here. Probably the start of many questions :)

Post by Kirsti »

Thank you so much NF52!! So kind of you to provide such a detailed response. Thanks for the virtual hug- and yes I’m 49, my mum is nearly 69 and we’ve just put her into care, hence my keen interest in all things Bredesen!!

Now reading your info, it would seem that it carries down the female line, the men have been exempt so far! So yes, it would appear that the women in my family who started to experience symptoms in their 50s are likely to be APOE4/4.

You are spot on the money- I did want to know whether you could have both PSEN1 or 2 AND APOE4- but on balance it would seem unlikely so perhaps I’ll leave that further genetic investigation for now.

I’m sorry to hear about your family history…. And yet so buoyed by your optimism! Glad to hear you are in such good health- it provides hope to us all 😊

And yes Australia- without getting too political- I might have had a different view about it being a wonderful place a few months ago- but a new government can change things up dramatically! I do take for granted our gorgeous countryside and full weather cycles, which make enjoyment of the seasons so possible.

And if you have relatives here- they are obliged to put you up on the couch for a new nights! Come and visit! (Although I’m in a super cold wintery place- head for the warmer parts of our country in winter!)
Take care
Kirsti
Attabeth
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Re: Hello! New here. Probably the start of many questions :)

Post by Attabeth »

Kirsti wrote: Tue Jul 12, 2022 4:20 pm Hi there! I’m Kirsti from Australia and are going through the Bredesen assessment process right now with a Bredesen GP trained in NZ. I will get my full report towards the end of August, I think. Looking forward to it!

I’m getting results back in dribs and drabs and I just got my Apoe status yesterday- I’m apoe4/3.

My mum, her sister, her mother and her mothers sister all got early onset but have never been genetically tested, to my knowledge. My great grandmother got LOAD, in her late 80s. All of these women are on my maternal side of the family.

I’ve read the primer and my main question is can you have FAD (PSEN1/2) and APOE4? I’m wondering if I have left a stone unturned…. In my risk discovery process.

Grateful for your help.
Kirsti
Hi Kirsti,
Welcome to the forum. I'm so glad you are here. I must first say that if NF52 makes that visit to Australia, I will have to join her. It has always been on my top places to visit. It looks like she had a very helpful and hopeful response to your question.
As a welcome intern I want to say hello and share some links that might make navigating this site a bit easier. You are already familiar with the Primer. Some helpful tips and tricks to navigate the site include the How-to Guide. This guide is a great resource I found helpful when I started posting. It includes topics such as navigating the forum, private messaging, and searching. One great tip is using the quote (") button when replying to a post. Using the button will automatically alert the member of your response. It really helps to keep the conversation going.

If you would like to tell us more about yourself or interested in learning more about other members check out Our Stories.

Your eagerness to learn and dedication to a healthy lifestyle will serve you well. I'm so glad you found this site and I look forward to your future questions and learning more about you. Please feel free to ask as many questions as you like.

Be well,
Beth
Kirsti
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Re: Hello! New here. Probably the start of many questions :)

Post by Kirsti »

Attabeth wrote: Tue Jul 12, 2022 9:46 pm
Kirsti wrote: Tue Jul 12, 2022 4:20 pm Hi there! I’m Kirsti from Australia and are going through the Bredesen assessment process right now with a Bredesen GP trained in NZ. I will get my full report towards the end of August, I think. Looking forward to it!

I’m getting results back in dribs and drabs and I just got my Apoe status yesterday- I’m apoe4/3.

My mum, her sister, her mother and her mothers sister all got early onset but have never been genetically tested, to my knowledge. My great grandmother got LOAD, in her late 80s. All of these women are on my maternal side of the family.

I’ve read the primer and my main question is can you have FAD (PSEN1/2) and APOE4? I’m wondering if I have left a stone unturned…. In my risk discovery process.

Grateful for your help.
Kirsti
Hi Kirsti,
Welcome to the forum. I'm so glad you are here. I must first say that if NF52 makes that visit to Australia, I will have to join her. It has always been on my top places to visit. It looks like she had a very helpful and hopeful response to your question.
As a welcome intern I want to say hello and share some links that might make navigating this site a bit easier. You are already familiar with the Primer. Some helpful tips and tricks to navigate the site include the How-to Guide. This guide is a great resource I found helpful when I started posting. It includes topics such as navigating the forum, private messaging, and searching. One great tip is using the quote (") button when replying to a post. Using the button will automatically alert the member of your response. It really helps to keep the conversation going.

If you would like to tell us more about yourself or interested in learning more about other members check out Our Stories.

Your eagerness to learn and dedication to a healthy lifestyle will serve you well. I'm so glad you found this site and I look forward to your future questions and learning more about you. Please feel free to ask as many questions as you like.

Be well,
Beth
Thank you Beth! Such lovely kind words and thanks for the tips and tricks.

And come over for a coffee! I live in the least known capital city of Australia- Canberra :lol:
Kirsti
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Joined: Thu May 19, 2022 11:30 pm

Re: Hello! New here. Probably the start of many questions :)

Post by Kirsti »

Kirsti wrote: Tue Jul 12, 2022 7:39 pm Thank you so much NF52!! So kind of you to provide such a detailed response. Thanks for the virtual hug- and yes I’m 49, my mum is nearly 69 and we’ve just put her into care, hence my keen interest in all things Bredesen!!

Now reading your info, it would seem that it carries down the female line, the men have been exempt so far! So yes, it would appear that the women in my family who started to experience symptoms in their 50s are likely to be APOE4/4.

You are spot on the money- I did want to know whether you could have both PSEN1 or 2 AND APOE4- but on balance it would seem unlikely so perhaps I’ll leave that further genetic investigation for now.

I’m sorry to hear about your family history…. And yet so buoyed by your optimism! Glad to hear you are in such good health- it provides hope to us all 😊

And yes Australia- without getting too political- I might have had a different view about it being a wonderful place a few months ago- but a new government can change things up dramatically! I do take for granted our gorgeous countryside and full weather cycles, which make enjoyment of the seasons so possible.

And if you have relatives here- they are obliged to put you up on the couch for a new nights! Come and visit! (Although I’m in a super cold wintery place- head for the warmer parts of our country in winter!)
Take care
Kirsti
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