38 yo 4/4 dietitian with recent ET diagnosis

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
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NBNx3
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38 yo 4/4 dietitian with recent ET diagnosis

Post by NBNx3 »

Hi!
Science nerd + nutrition foodie over here and just found this amazing group! I am a voracious learner and the more I learn the more I realize how little I know haha. This couldn’t feel more true after reading through posts on here!

My paternal grandmother passed away from Alzheimer’s after 10 years with the disease in her 70’s. She always ate dessert as her dinner! My parents are early 60’s, no cognition changes.

I’ve eaten a lower carb, high fiber, plant-rich Mediterranean diet since my mid-20’s (before I knew about my 4/4). Since then I’ve also exercised 5+ days a week. For the last several years I have fasted 14/10 almost daily, occasional 36 hour fasts, take high dose omega-3’s (plus eat lots of fatty fish), take phosphatidylcholine and methylated B vitamins. I definitely love sweets but am pretty good at using allulose or erythritol for subs. Anyhow, I’ve felt like I’ve been living the straight and narrow for a looong time. Only thing not well controlled is sleep in the first year of having each of my 3 children, and stress due to a chronic illness in my oldest (during his flares). Otherwise life is low stress and I prioritize sleep hygiene.

I was recently diagnosed with Essential Thrombocythemia (ET) via bone marrow biopsy. Platelets were near a million, leukocytosis, and I had a scary thrombosis event. I apparently had a JAK2 mutation within the last 2 years (maybe while pregnant with my last child, or shortly after). I did a search on here but I didn’t find anything on ET/MPNs. I’m trying to make sense of my diagnosis, how it might be connected to my 4/4 and/or my other SNPs (I have several choline-related SNPs) and how to best manage my health risks going forward with both of these in mind. Any insight would be very appreciated!! Due to my ET, I’m now on baby aspirin and 1000mg Hydrea daily.

FYI- my hematologist is great and I’m planning on keeping him but I’m currently awaiting transfer of care from my very average PCP to someone who is more functional medicine/genetics/APOE4-minded.

Thank you for reading all this and can’t wait to engage more with this group!
NF52
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Re: 38 yo 4/4 dietitian with recent ET diagnosis

Post by NF52 »

NBNx3 wrote:Hi!...
Anyhow, I’ve felt like I’ve been living the straight and narrow for a looong time. Only thing not well controlled is sleep in the first year of having each of my 3 children, and stress due to a chronic illness in my oldest (during his flares). Otherwise life is low stress and I prioritize sleep hygiene.

I was recently diagnosed with Essential Thrombocythemia (ET) via bone marrow biopsy. Platelets were near a million, leukocytosis, and I had a scary thrombosis event. I apparently had a JAK2 mutation within the last 2 years (maybe while pregnant with my last child, or shortly after). I did a search on here but I didn’t find anything on ET/MPNs. I’m trying to make sense of my diagnosis, how it might be connected to my 4/4 and/or my other SNPs (I have several choline-related SNPs) and how to best manage my health risks going forward with both of these in mind. Any insight would be very appreciated!! Due to my ET, I’m now on baby aspirin and 1000mg Hydrea daily.

FYI- my hematologist is great and I’m planning on keeping him but I’m currently awaiting transfer of care from my very average PCP to someone who is more functional medicine/genetics/APOE4-minded.

Thank you for reading all this and can’t wait to engage more with this group!
A warm welcome, NBNx3!

Reading your post as a 69 year old 4/4 woman who also has 3 kids, one of whom also had significant health issues ( 6 operations before Kdg and regular ER trips) and who found out at age 18 that I had pre-natal exposure to DES that might cause vaginal cancer, infertility, and breast cancer--I don't know how your days and nights are right now, but I know you're doing a fantastic job of thriving in the midst of uncertainty! And that's what we sometime get: the "gift" of realizing that everyone's life is uncertain and ours is just more openly uncertain and therefore incredibly valuable.

I didn't struggle with fertility or cancer and have been fortunate like you in having wonderful women doctors. Our son grew out of his health issues and our two sons and daughter are all happy, healthy, independent adults. My diet in mid-life was closer to your grandmother's (she must have been as sweet as her "dinners"), but with retirement I went back for a challenging 2nd Master's degree, lost most of the extra weight, rediscovered being fit. After learning my 4/4 status at age 62 (and again having an inaccurate prediction from an early article that I would be diagnosed with AD by age 68), I have found wise people on this forum and through scholarly articles, wonderful friendships and opportunities to learn more as a Consumer Reviewer for grants and by participating in clinical trials and observational studies. Today, I score as well as I did years ago on cognitive tests..(and still can't draw or play the piano).

It helped me to read about "classical stoicism" (not the Rambo version) to embrace not knowing the journey's end and love the voyage in all its variety. At your age, and with your A-game, and with science doing what it does best--ApoE 4/4 is not going to write your story.
4/4 and still an optimist!
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CindyM
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Re: 38 yo 4/4 dietitian with recent ET diagnosis

Post by CindyM »

NBNx3 wrote:Hi!
Science nerd + nutrition foodie over here and just found this amazing group! I am a voracious learner and the more I learn the more I realize how little I know haha. This couldn’t feel more true after reading through posts on here!

My paternal grandmother passed away from Alzheimer’s after 10 years with the disease in her 70’s. She always ate dessert as her dinner! My parents are early 60’s, no cognition changes.

I’ve eaten a lower carb, high fiber, plant-rich Mediterranean diet since my mid-20’s (before I knew about my 4/4). Since then I’ve also exercised 5+ days a week. For the last several years I have fasted 14/10 almost daily, occasional 36 hour fasts, take high dose omega-3’s (plus eat lots of fatty fish), take phosphatidylcholine and methylated B vitamins. I definitely love sweets but am pretty good at using allulose or erythritol for subs. Anyhow, I’ve felt like I’ve been living the straight and narrow for a looong time. Only thing not well controlled is sleep in the first year of having each of my 3 children, and stress due to a chronic illness in my oldest (during his flares). Otherwise life is low stress and I prioritize sleep hygiene.

I was recently diagnosed with Essential Thrombocythemia (ET) via bone marrow biopsy. Platelets were near a million, leukocytosis, and I had a scary thrombosis event. I apparently had a JAK2 mutation within the last 2 years (maybe while pregnant with my last child, or shortly after). I did a search on here but I didn’t find anything on ET/MPNs. I’m trying to make sense of my diagnosis, how it might be connected to my 4/4 and/or my other SNPs (I have several choline-related SNPs) and how to best manage my health risks going forward with both of these in mind. Any insight would be very appreciated!! Due to my ET, I’m now on baby aspirin and 1000mg Hydrea daily.

FYI- my hematologist is great and I’m planning on keeping him but I’m currently awaiting transfer of care from my very average PCP to someone who is more functional medicine/genetics/APOE4-minded.

Thank you for reading all this and can’t wait to engage more with this group!
Hello NBNx3 and welcome to the forum!

I am so glad you found us. You are not alone in your health journey, and finding support with like-minded people is so helpful for anyone dealing with scary diagnoses. The initial shock and fear will not last forever, and any feelings of anxiety will lessen with time!

In my experience helping clients with difficult diagnoses, having the right support system is key. It sounds like you are actively searching for a more knowledgable PCP, which will be very helpful to you as you navigate this ApoE4/ET journey. Have you looked into support groups for ET? The more you can openly talk about your health concerns through friends, family, health care providers, and support groups, the better!

One of the main purposes of this forum is to help each other make the best choices in lifestyle and diet so that our ApoE4 variant affects us less. I see that you have been able to sustain a very healthy lifestyle since discovering your 4/4 status, and even before you knew! That takes a lot of perseverance and self regulation, especially at your young age - great job! The healthy diet, exercise, and awareness for good sleep hygiene and stress management will continue to maximize your gene potential. Do you have a relaxation practice, such as mindfulness, breathing, or gratitude exercises?

I'm happy that you have already been exploring the website. If you haven't seen it already, I encourage you to check out our primer .This is a fantastic resource which explores areas such as the science behind the ApoE4 gene and the lifestyle factors that impact its expression. Our how-to guide is another helpful resource on how to search for topics and how to subscribe to topics of interest and more. You can also check out threads that have been started by other members in our stories. If your comfortable, you can share your story here as well.

Luckily, there are individuals on this site that might be able to help you out with your questions about ET/MPNs, and how they might be connected to your 4/4 or SNPs.

Your love of learning has empowered you with knowledge about your gene variants. Eagerness to learn can help immensely with any health anxiety, so keep it up!

Again, welcome! We are here to assist you, so please feel free to reach out any time.

Best,

CindyM
Functional Medicine Certified Health Coach
NBNx3
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Joined: Wed Oct 27, 2021 7:49 pm

Re: 38 yo 4/4 dietitian with recent ET diagnosis

Post by NBNx3 »

NF52 wrote:
NBNx3 wrote: A warm welcome, NBNx3!

Reading your post as a 69 year old 4/4 woman who also has 3 kids, one of whom also had significant health issues ( 6 operations before Kdg and regular ER trips) and who found out at age 18 that I had pre-natal exposure to DES that might cause vaginal cancer, infertility, and breast cancer--I don't know how your days and nights are right now, but I know you're doing a fantastic job of thriving in the midst of uncertainty! And that's what we sometime get: the "gift" of realizing that everyone's life is uncertain and ours is just more openly uncertain and therefore incredibly valuable.

I didn't struggle with fertility or cancer and have been fortunate like you in having wonderful women doctors. Our son grew out of his health issues and our two sons and daughter are all happy, healthy, independent adults. My diet in mid-life was closer to your grandmother's (she must have been as sweet as her "dinners"), but with retirement I went back for a challenging 2nd Master's degree, lost most of the extra weight, rediscovered being fit. After learning my 4/4 status at age 62 (and again having an inaccurate prediction from an early article that I would be diagnosed with AD by age 68), I have found wise people on this forum and through scholarly articles, wonderful friendships and opportunities to learn more as a Consumer Reviewer for grants and by participating in clinical trials and observational studies. Today, I score as well as I did years ago on cognitive tests..(and still can't draw or play the piano).

It helped me to read about "classical stoicism" (not the Rambo version) to embrace not knowing the journey's end and love the voyage in all its variety. At your age, and with your A-game, and with science doing what it does best--ApoE 4/4 is not going to write your story.
Thank you for sharing, I loved reading your story!! ❤️
NBNx3
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Joined: Wed Oct 27, 2021 7:49 pm

Re: 38 yo 4/4 dietitian with recent ET diagnosis

Post by NBNx3 »

CindyM wrote:
NBNx3 wrote: Hello NBNx3 and welcome to the forum!

I am so glad you found us. You are not alone in your health journey, and finding support with like-minded people is so helpful for anyone dealing with scary diagnoses. The initial shock and fear will not last forever, and any feelings of anxiety will lessen with time!

In my experience helping clients with difficult diagnoses, having the right support system is key. It sounds like you are actively searching for a more knowledgable PCP, which will be very helpful to you as you navigate this ApoE4/ET journey. Have you looked into support groups for ET? The more you can openly talk about your health concerns through friends, family, health care providers, and support groups, the better!

One of the main purposes of this forum is to help each other make the best choices in lifestyle and diet so that our ApoE4 variant affects us less. I see that you have been able to sustain a very healthy lifestyle since discovering your 4/4 status, and even before you knew! That takes a lot of perseverance and self regulation, especially at your young age - great job! The healthy diet, exercise, and awareness for good sleep hygiene and stress management will continue to maximize your gene potential. Do you have a relaxation practice, such as mindfulness, breathing, or gratitude exercises?

I'm happy that you have already been exploring the website. If you haven't seen it already, I encourage you to check out our primer .This is a fantastic resource which explores areas such as the science behind the ApoE4 gene and the lifestyle factors that impact its expression. Our how-to guide is another helpful resource on how to search for topics and how to subscribe to topics of interest and more. You can also check out threads that have been started by other members in our stories. If your comfortable, you can share your story here as well.

Luckily, there are individuals on this site that might be able to help you out with your questions about ET/MPNs, and how they might be connected to your 4/4 or SNPs.

Your love of learning has empowered you with knowledge about your gene variants. Eagerness to learn can help immensely with any health anxiety, so keep it up!

Again, welcome! We are here to assist you, so please feel free to reach out any time.

Best,

CindyM
Functional Medicine Certified Health Coach

I’ve looked through the primer and guide, great resources! I’ve also been reading through the choline topics. My gut is telling me my phosphatidylcholine supplementation is actually worsening my platelet count.
I’ve known for about 5 years about my 4/4 but just found out about ET. Kinda feels like my body has betrayed me despite me supporting it the best I can. I agree I need the right support, trying to work on that.
I don’t have a gratitude practice but that’s a great idea. I have a gratitude journal and have yet to use it! I don’t have an ET support group yet. You’ve given me some good things to think about. Thank you!
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