Resources & Articles

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.

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.

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

“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.

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

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

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.

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.

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.

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

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

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.

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

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

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.

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.

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.

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

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

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

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.”

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

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.

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.

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.

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.

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.

Leah found that living with myasthenia gravis (MG), an “invisible” disease, was often misunderstood by her friends and family. But with incredible strength and positivity, Leah has navigated through her hardships and now celebrates a community dedicated to uplifting rare disease patients.

Once AllStripes collects your medical records, how do we use them for research? One important step is verifying the completeness and depth of the data from each participant.

"As soon as I had the genetic results, I wanted to get it out to anyone who was willing to listen."

Gradually, PSP patients can have trouble completing everyday activities. Here’s a compiled list of items that PSP community members have shared.

PicnicHealth is proud to partner with WeAreILL to empower women of color living with MS to get better access to their medical records and to contribute to research on their terms.

PicnicHealth gives people with lupus more control navigating their medical care. PicnicHealth does the hard work of tracking down medical records for patients, giving them access to their complete records, organized in one place. And with PicnicHealth, patients can choose to contribute their data to scientific research, which helps life sciences researchers accelerate breakthroughs in care.

Noga Leviner founded PicnicHealth after managing a Crohn's disease diagnosis to give patients more control navigating their own care. PicnicHealth does the hard work of tracking down medical records for patients, giving them access to their complete records, organized in one place. And with PicnicHealth, patients can choose to contribute their data to scientific research, which helps life sciences researchers accelerate breakthroughs in care.

Deborah is determined to help other families impacted by GM1 gangliosidosis to honor her sons, Luke and Isaiah.

PicnicHealth is excited to announce $35 million in funding, including a $25 million Series B led by Felicis Ventures, and a previously-unannounced $10 million Series A led by Amplify Partners, which also participated in the Series B.

Learn about common guidelines for managing sickle cell disease.

"I’m not someone who has ever asked for help," says Kim, whose son Charlie lives with a rare disease referred to as SLC6A1. "I don’t do it in any other aspect of my life. But in this situation, I have no choice: ask for help or watch my son suffer.”

Awareness days, weeks or even months are opportunities to rally a community and raise funding to advance the mission of nonprofit organizations that serve individuals living with a rare disease and their families.

What is safe to eat when you have ulcerative colitis? Learn about what foods to avoid to help in managing ulcerative colitis and other inflammatory bowel diseases.

Lara and Ron have had to make tough decisions in the fight against their son’s rare disease, including whether to undergo a potentially risky brain surgery.

Announcing the official launch of PicnicHealth's scientific research platform. PicnicHealth is gathering medical records data from proactively consenting patients, de-identifying it to ensure patient data privacy, and then aggregating it with the goal of deepening the scientific understanding of serious diseases. This data, known as “real-world data” helps researchers better understand what diseases look like outside of the controlled setting of clinical trials where research has traditionally been done.

Once devoted to his job, he is now devoted to supporting others with myositis.

Nicole's daughter Olivia is living with CDKL5, a rare disease characterized by frequent seizures. She has some advice for other parents raising rare children.

The Children’s Tumor Foundation, an AllStripes partner, is on a mission to show the value of patients’ voices and inclusion in the decision-making process.

Gary was diagnosed with PSP, a rare disease that often presents with symptoms similar to Parkinson’s disease. He’s struggled with the condition, but also the feelings of isolation and frustration that accompany it.

PicnicHealth doctor and founding team member Gillian Hanson uses her own experience as a patient to help the hemophilia community and other disease communities for PicnicHealth.