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My PNH Journey: The Fight Continues

Read the first installment of Maegan’s journey and the power of a diagnosis as she lifts up her story and supports others on Rare Disease Day 2022.

Part II. To guide you on my journey, I’ll skip ahead a little. After six arduous months, I finished my HLH protocol, returned to school, and lived happily ever after, never thinking critically about my health ever again. Right? Right?? Okay, maybe not. Don’t you remember the entire point of this post? Health is not linear! The story that my doctors told me- the story of recovery and a proud hero’s return back to a loving high school with loving friends and a fit body, that was not the story I was destined to live. And I would argue that very few of us are actually destined for that healthy little pocket of reality.


So, jump to six months of chemo under my belt, ready for the miraculous end to my hero’s journey. The Fault in Our Stars told me that I was wiser, more attractive and mysterious to the abled-bodied people around me; I had survived a character-building road-bump. Now that my doctors had told me that I was “fully healed” it was time to run a marathon or get really into CrossFit or something. I felt that it was my time to become an inspiration! It was finally time to return to the world of the living, back and better than ever! But that never happened.


An onslaught of symptoms continued after my initial treatment, and I felt like I was paving my way through the entire medical system in search of answers. For my extreme stomach pain I was sent to a gastroenterologist (nothing notable), for my monthly urinary spasms I was sent to a urologist (have you tried cranberry pills?), for my fatigue I was sent to a psychiatrist (yoga, anyone?), the list goes on. Doctors would see symptoms and point me to other doctors. Tests would come back negative and I would feel deflated. When there were so many different eyes on my health, but no answers, I felt so hopeless, like I was hitting dead-end after dead-end. I felt like a hypochondriac with a team of doctors and no solid diagnosis.


When I would try to get accommodations for “fatigue and stomach pain,” I could feel people rolling their eyes. Even though I had the HLH diagnosis from when I was 17, it didn’t align with the symptoms that I was feeling, and the uncertainty of my diagnosis did not lend well towards the standard “illness narrative.” Sure, I had low blood counts, but people could function much lower. I got a tentative IBS diagnosis after tons of GI tests, but I still had doctors scratching their heads when I described the exorbitant levels of pain that I would feel in my sternum, as though I was being pierced with a rod. No medicines seemed to really help, and I felt powerless to understand or support my clearly suffering body. The roller coaster that I was on was thrashing my poor body around, and I was helpless to stop the ride.

Doctors would see symptoms and point me to other doctors. Test would come back negative and I would feel deflated.

I felt at this time like I was doing everything that I was supposed to do. I was getting regular labs, seeing specialists, trying new meds. During this period, I tried so many different immunosuppressants- cyclosporine, methotrexate, colchicine, you name it. Every time I would go in for an appointment, I would complain of my inescapable chronic fatigue. I remember telling one doctor that it was my number one complaint, that it was making my life unlivable. After a years-long push, I was able to get put on stimulants, but those barely made a dent in the exhaustion I was feeling.


On my worst days, I was literally unable to move- unable to eat, to get up to feed my cats, unable to even watch a movie or look at my phone. My brain would be foggy to the point that I could barely hold a conversation. I would have to call friends and have them help with chores around the house. I would doze off while they would take the trash out for me, and I would feel so guilty and lazy for just sleeping days and days away. I would have good days, but then those days became a sort of torture as well. I would feel good and do more and feel hopeful and plan and dream and work hard…and then the roller coaster would plummet back down to the ground, and I wouldn’t be able to move again. I would feel punished for trying to escape the bed.


The world seemed to continue around me as I slept, losing months of my life at a time. Friends going back to school, meeting significant others, traveling, working, getting married…all while I was in bed. But then the roller coaster would start another upward climb! And I would try to work even harder and jump back into a relatively able-bodied life and make friends and then…I would get hospitalized for low blood counts or a dramatic immune response or for the pain in my abdomen.


All the while, I had no clue what was happening. I had elevated inflammation markers and weird labs, but nothing was really being done to help. I would try to remind myself that I wasn’t crazy, that those labs showed that something was actually wrong! But, try as I might to stay positive, I felt so helpless and in the dark with my own body. When I had to quit my job and move home, with no real explanation or diagnosis, there was still a huge part of me that felt less like a person with a rare and destructive auto-immune disease and more like a failure.

Finding Peace

Ten years into my illness, and with a new PNH diagnosis under my belt, I have come to accept the fact that my body never has really been able to return to the promised ‘normal’. Having a diagnosis brings me such a feeling of validation, as though the screams that I have been letting out for ten years are finally being listened to. But it pains me that other people with rare and undiagnosed illnesses feel the same sense of invisibility, as though our journeys don’t matter because they aren’t tied up easily with a bow.

...It pains me that other people with rare and undiagnosed illnesses feel the same sense of invisibility, as though our journeys don’t matter because they aren’t tied up easily with a bow.

I’ve never felt comfortable telling my story because it is still ongoing- there is no traditional ‘happy ending’. I’ve never been able to rely on my health in the same way as when I was able-bodied. I’ve waited for years and years and I’ve tried it all: new doctors, treatments, eating better, exercising more, supplements, positive thinking, yoga…all of it in the name of trying to find the key to finally put my illness behind me. But I have learned that disabled health is a beautiful journey: the able-bodied fantasy life may not exist but I have had many happy pitstops, rest-stops, and bright spots, and I cherish those all the more.


Because of all of this, it’s hard to figure out what to say to fellow PNH and rare disease sufferers. It seems depressing that life is just like this. Pain and fatigue and phone calls with insurance agents. Unreliable incomes, no income. I don’t know if I will turn a corner or if I should finally just abandon the concept of equilibrium altogether. New medications and doctors may offer respite, but I know that the relationship that I have with my body must always remain a top priority.


The most valuable thing that I have learned these past ten years is that being realistic and finding peace is better than ignoring and punishing my body. I want to love and cherish this weird PNH journey that I am on, rather than feeling resentment. We as disabled people must pave the way towards our own special individual kinds of successes because they are underrepresented by the media. By looking away from the fantasies laid out before us, we can actually envision our own thriving disabled lives and encourage others to do the same. We all can live new fairy tales once we destroy the old ones in our brains.


Your body is unique and beautiful, your life will happen at your own pace, and your disability journey is an ongoing and wonderful path that is part of a rich and varied tapestry that deserves to be celebrated, supported, and heard.

The reason I am so excited to work with Picnic Health on this Rare Disease Day is because I want everyone to feel the same joy that I have experienced through connecting with not just a diagnosis but with a community of peers as well. For the first time in ten years I am able to reach out to others who have been in the same PNH boat. I am able to feel less alone and quantify my experiences rather than attempt to simply cover them up. I am excited to share my journey to help my disabled peers feel the same hope that I am feeling, even as the odds seem so stacked up against us.


Above all, on this Rare Disease Day, I want to send love and support to all of those whose bodies are not the norm. Your body is unique and beautiful, your life will happen at your own pace, and your disability journey is an ongoing and wonderful path that is part of a rich and varied tapestry that deserves to be celebrated, supported, and heard. Happy Rare Disease Day, friends!


To continue to support Maegan, follow her on Instagram (@bu99ram) and LinkedIn.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

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Together, we can make a difference.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

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1

Build a support network.

If your loved one is in the early stages of Alzheimer’s, putting a support system together might not seem like priority #1. But it’s never too soon to build a network of people that you can turn to in times of need. Cultivate connections today with the people who can be there tomorrow, or whenever you might need a hand.

You may also want to connect with other Alzheimer’s caregivers through a support group, whether it meets in-person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating the world of Alzheimer’s.

2

Stay organized.

If your loved one is in the early stages of Alzheimer’s, putting a support system together might not seem like priority #1. But it’s never too soon to build a network of people that you can turn to in times of need. Cultivate connections today with the people who can be there tomorrow, or whenever you might need a hand.

You may also want to connect with other Alzheimer’s caregivers through a support group, whether it meets in-person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating the world of Alzheimer’s.

3

Plan for the future.

It isn’t always easy to look into the future with Alzheimer’s—but doing the legwork now will save you from stress later. If your loved one is in the early stages of illness, you can involve them in conversations about legal, financial, and long-term care planning decisions. Despite the difficulty of these topics, you’ll all feel empowered by facing them early, and you can move ahead with greater confidence.

4

Explore treatments and clinical trials.

It’s an exciting time for Alzheimer’s research, with new treatments in development and coming to market. Ask your loved one’s doctors about therapies they can try or clinical trials they can join. One easy way to participate in research is to sign up at PicnicHealth, which helps to advance Alzheimer’s science by sharing participants’ anonymous health data with some of the brightest minds in research.

5

Make time for self-care

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one with Alzheimer’s. And don’t forget to keep a sense of humor along the way.

Having trouble managing your loved one's medical records?

Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.

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New Research

Discover how PicnicHealth data powered medical research in 2021

Keeping Patients at the Center

This year, experts from PicnicHealth joined podcasts, webisodes, virtual summits and much more to speak to the importance of patient-centric approaches when building complete, deep real-world datasets.

LC-FAOD Odyssey: A Preliminary Analysis, presented at INFORM 2021

Data from real-world medical records:

(from 13 patients with LC-FAOD)

16 yrs old

Median age at enrollment

38% Female

15 providers / patient

7.5 years of data / patient

Data from patient-reported outcome (PRO) survey

(from 13 patients with LC-FAOD)

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