13 ‘Rare Disease Truths’ That Will Make You Think

PicnicHealth | 13 ‘Rare Disease Truths’ That Will Make You Think
February 25, 2021
Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

Whether you’ve recently been diagnosed or you’ve been living with a rare disease for a while, managing your condition comes with some powerful truths. Here are 13 experiences commenters shared with #RareDiseaseTruth. We hope they make you think and expand your understanding of the vast and varied rare disease community. Thank you to Neena Nizar for kicking off the #RareDiseaseTruth conversation.

Diagnosis is a privilege

"Diagnosis is a privilege. The average time to a #RareDisease diagnosis is 8 years. I waited 11 for mine. Undiagnosed and self-diagnosed people are a valuable part of our rare community, and we should treat them as such. #RareDiseaseTruth"

Alea Ricklefs (@AleaRicklefs) February 12, 2021

Being a support to families is bittersweet

"When a family reaches out 2 @Hsan1eSociety for the 1st time cause they just found out someone they love has HSAN1E. It's always bittersweet. On 1 hand I'm happy we have provided a place for them, on the other it kills knowing HSAN1E is destroying another family #RareDiseaseTruth "

Rachelle Dixon (@RachelleM_Dixon) February 6, 2021

You’re an expert, like it or not

"When I go to a new doctor or to the ER and have to explain my #RareDisease since they’ve never met “an actual patient”, I try to view it as a positive. I’m educating and spreading awareness, right? But sometimes it still feels like a kick in the gut. #RareDiseaseTruth"

Sabina Kineen (@sabkin12) February 6, 2021

Working for treatment that may not come in time

"#RareDiseaseTruth we work tirelessly with the knowledge that treatment may not come in time for our own kiddos, but it may be what decides the future of others. A really hard truth for patients/parents driving new treatments. #StillHeartbroken"

Neena Nizar (@NeenaNizar) February 15, 2021

The words you say matter, and ‘be patient’ is hard to hear

"#RareDiseaseTruth There is a sense of urgency in dealing with a rare disease. We know that working towards a treatment/cure takes time but “Be patient” can be one of the most frustrating things to hear. It’s so hard to be patient when rare disease isn’t so rare!"

Amy Casey (@hygienie1) February 13, 2021

For some, the science just isn’t there. Yet.

"My #RareDisease was diagnosed clinically. Genetic test shows variants of uncertain significance. That doesn’t mean there’s not a real why behind my issues. The science just isn’t there. Yet. We need more research. Everyday realities are known, significant, real. #RareDiseaseTruth"

Adam Johnson - DadVocate (@RareDiseaseDad) February 10, 2021

‘The Folder’ or ‘The Binder’ is something all rare parents know about

"Having to create a (medical) folder with all the info on your child's #RareDisease, for all the doctors visits, because the doctors vary and the info you need to give them is more than you can remember :( We need a multi-disciplinary team for our kids!!#RareDiseaseTruth"

Christina (@cmutena) February 14, 2021

Sharing hard truths with family

"The hardest part of deciding not to have children was telling my parents. Constantly being told how they “can’t wait to have grandchildren” —that responsibility weighed heavy on me. I made up my mind a while ago, but to my surprise, they were supportive of me.#RareDiseaseTruth"

Olivia Viola (@theoliviaviola) February 16, 2021

Nothing should be done for the patient without the patient

"Those looking to help #RareDisease patients must include patients & caregivers throughout the process. Nothing should be done for the patient without the patient. Working on a condition or treating a patient isn’t the same as living with it 24/7. #RareDiseaseTruth"

Khrystal K. Davis, JD (@KhrystalKDavis) February 8, 2021

The best days of my life have come after my diagnosis

"Most of the best days of my life have come after my diagnosis because I finally understand my body; I can work with my limitations and know that they are not my fault. Imagine what could have been...that part is harder. #RareDiseaseTruth"

Andra Stratton (@livinlavidalopo) February 11, 2021

Embracing the future and the unknown

"#RareDiseaseTruth My disease has brought so much pain, sorrow & loss. But it's also brought unimaginable kindness, joy & hope. How? This #RareDisease community. Without it I'd B stuck in past, searching 4 a way back 2 what was. Instead I embrace the future,the unknown. Good & Bad"

Marni Cartelli (@Purrfectly_Rare) February 13, 2021

Your life will never be normal again

"#RareDiseaseTruth After diagnosis your life will never be normal again. I wouldn’t have chosen this journey, but time and time again I have found beauty in life’s challenges. After watching my child continue to fight, it has shown me strength, resilience, and empathy. #UBA5"

Rachel (@Rachel10302016) February 13, 2021

Letting yourself dream for the future

"Months ago a “healthy” friend asked me what my dreams are for the future. The truth is I never planned past college or let myself dream. I didn’t know if I’d live long enough to accomplish anything.#RareDiseaseTruth I’m finally letting myself dream ❤"

Anna Laurent (@lilannalaurent) February 4, 2021

Thank you to the members of the rare disease community who took to social media to share their rare disease truths.



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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.

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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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Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally 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 caregiving.


Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.


Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.


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. No one can pour from an empty cup.

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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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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However, it's important to consult with a healthcare provider or registered dietitian to determine the appropriate amount of protein for your individual needs. In general, a diet with moderate protein intake (about 0.8 grams per kilogram of body weight per day) is recommended for people with kidney diseases.

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