Resources & Articles

PicnicHealth is excited to partner with Komodo Health to enrich its patient-centered real-world data Research Platform. This collaboration will enable PicnicHealth to unlock rich new insights about complex diseases and treatment outcomes.

Kevin Dooley founded Cure IBM in 2017 to raise awareness of inclusion body myositis (IBM) and encourage research for an effective treatment and cure.

As physicians, Michael’s parents struggled with watching him suffer from unexplained symptoms, without a diagnosis or path to make everything better.

When Sarah discovered a large dent on top of her head, it took several doctors to figure out that she had Gorham-Stout disease, which affects only 200 people in the world.

Mandy explains she has a “mutated PIK3CA gene” which causes cells in certain parts of her body to divide too quickly and survive longer than they should. This leads to an overgrowth of bodily tissue.

“For 30 minutes in the morning, I allow myself to feel sorry for myself. But after 30 minutes, I have to go to work. And next thing you know, you’re back and making dinner.”

Mandy was born with overgrown lower limbs and a club foot. It took 30 years to find out the true cause.

Caitrin lost her daughter to Sandhoff disease and sees contributing to research as one way to make sure Embree's memory lives on.

Doctors initially thought Julian had cerebral palsy, but after genetic testing, he was eventually diagnosed with Lesch-Nyhan disease. Now, his mother brings what she's learned from this experience into the classroom.

Whether you’re already a podcast lover or are just starting to explore the podcast universe, you're in luck: There are a good number of podcasts that highlight voices from the rare disease community!

Whether you’re already a podcast lover or are just starting to explore the podcast universe, you're in luck: There are a good number of podcasts that highlight voices from the rare disease community! We’ve rounded up some of the rare disease podcasts we love that are going strong and putting out new and upcoming episodes. Here are some reliable — and educational — podcasts from and for the rare disease community:

When Kristen describes infantile Tay-Sachs disease to her friends, she tells them to imagine Alzheimer’s or dementia in a baby.

May is Myositis Awareness Month! Myositis is an umbrella condition consisting of five rare subtypes, including inclusion body myositis (IBM).

People with rare diseases, and their families, often feel like they are the experts in the room when meeting with a doctor who is not specialized in their condition. They may find themselves educating medical professionals about the condition – and many have even experienced a doctor Googling their rare disease during an appointment. This exchange can be particularly stressful when someone is seeking symptom relief.

When you're impacted by a rare disease, preparing for a doctor's appointment can be a process. Five AllStripes ambassadors shared their top tips.

Diane and Wayne used to be ballroom dancers. Now, Diane doesn’t have the muscle control or balance to dance.

Deborah was experiencing symptoms of myasthenia gravis for four years before receiving a diagnosis — right before her vow renewal.

Autism is a behavioral diagnosis, so it’s possible for individuals with rare single-gene disorders to receive an autism diagnosis on top of their rare disease diagnosis.

A seizure and a medical conundrum from her husband’s past were the clues to a condition that affects Jessie’s whole family.

In the span of a month, Al was diagnosed with late-onset Tay-Sachs disease and his fiancée broke off their engagement. Here's how he learned to surrender to the flow.

For many rare diseases, early diagnosis and treatment is crucial.

Leeya explains how a difficult time in her life allowed her to realize who her true friends are — and steered her toward advocating for the rare disease community on social media.

Jenny’s son, Victor, was born with an enlarged cheek, which turned out to be a fatty overgrowth caused by a mutation on Victor’s PIK3CA gene.

Manuel sees the people around him as his greatest strength, and believes that finding the IBM community has given him purpose.

Today, Ben is 5 years old. Stephan describes him as the funniest and smartest person he knows and a “very wise soul.”

“I miss her so much but know she is in a better place eating cookies, talking walks, playing piano and playing Cribbage and Yahtzee with her dad,” says Larry, whose wife Rachel passed away due to complications of PSP.

One of the best ways Matt has found to adjust to his daughter Wynne's diagnosis is by connecting with others in the Kleefstra community.

In his own words, Thomas shares his experience growing up with Crigler-Najjar Syndrome, Type 1, and receiving a liver transplant that changed his world.

“Gratitude for what we have today (however flawed by symptoms) is always preferable to wasting your emotional strength on lamenting a loss of function."

Throughout the month of February, members of the rare disease community have been sharing what it’s really like using the hashtag #RareDiseaseTruth.

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.

PicnicHealth is working on new research that uses data from medical records to better understand the day-to-day challenges of living with sickle cell. And we're looking for volunteers with sickle cell disease to help.

In her own words, Kristen shares her CCM3 syndrome journey and what she's learned about the rare disease community.

Yohanna’s son, Xander, was finally diagnosed with a rare condition known as SLC6A1 when he was two. Now, she has a message for other parents currently searching for a diagnosis.

In his own words, Brandon writes about how he and his sister began caring for his mom, a former oncology nurse, when they were still entering adulthood themselves.

Lindsey’s journey with her rare condition has evolved, and so has her ability to fiercely advocate for her needs as a patient and person.

Stephen first began experiencing symptoms of myasthenia gravis when he noticed his vision was blurred while driving home from work.

Sherman, who has CIDP, shares his advice for others in the rare disease community.

In 2018, Amy was diagnosed with VCP disease. While adjusting to life with a rare disease hasn’t been easy, she has become more spiritual and focused on self-care.

She hopes that her example will show others that it is possible to live a happy life with CLOVES syndrome.

When McKenzie’s daughter, Mia, was diagnosed with Leigh syndrome, McKenzie blamed herself for it. “Because it’s inherited,” she explains, “you get that feeling that you contributed in some way.”

John was diagnosed with late-onset Tay-Sachs, and now he's raising awareness about the condition while continuing to pursue his passions.

Theresa’s children, both in their 40s, were recently diagnosed with alpha-mannosidosis after almost a lifetime of experiencing symptoms.

One wrong click of the mouse led to Tim unknowingly publishing his online journal about progressive supranuclear palsy for all the world to see. He never could've imagined what happened next.

Kim’s son James began experiencing strange symptoms while away at college. The mystery condition began taking over his life, and eventually Kim tracked down what was happening: Wilson disease.

When Andrea was diagnosed with late-onset Tay-Sachs disease at 33, she didn’t know what to expect. Today, life looks different, but she still enjoys the hobbies she loves the most.

Learn more about the causes, symptoms and treatments available for Wilson disease, a rare condition that causes free copper to build up in the liver.

Ever since her son, Will, was diagnosed with SURF1-associated Leigh syndrome, Kasey has gone to great lengths to drive forward research not only for his disease, but for other rare diseases as well.

Michelle lost both of her sons to a rare condition called Lesch-Nyhan disease. Almost a decade later, she remains a leader in the Lesch-Nyhan community and works tirelessly to support caregivers and patients.

Jareb began experiencing symptoms of Wilson disease when he was a preteen. Today, he uses diet and medication to manage his condition, and has made creative adaptation in his work life.