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.