Every person’s experience with a rare disease is unique, yet sharing personal perspectives can be extremely valuable to others living with the same condition.

We are proud to present the journeys below, which bring to life the daily challenges, perseverance, and bravery of people living with rare diseases.

If you would like to share your personal story, please click here to contact us.

Use the dropdown to sort by disease state:

Helen

An MPS VII Parent

The Power of Positivity
He has his own way of communicating with people, including his own language, which his family and very close friends have learned.
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Sandy

Living with GNE Myopathy

Believing in the Future
“I think the most important thing for a patient with a rare disease is to never ever give up hope.”
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Valeria

Living with GNE Myopathy

Being an Advocate
“What made me set up the association was the will to fight the fear.”
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Cheryl

Living with XLH

Staying Positive
“Having a rare disease, I can’t control my symptoms, but I can control my attitude.”
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Briggs

Raising a Child with Glut1 DS

Getting the Most Out of Every Day
“Even on rough days, Briggs always had the ability to make everyone around him happy.”
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Tasia

Living with LC-FAOD

Learning to Manage My FAOD
“I see kids who are struggling the same way that I did, and just being able to be a beacon of hope for them, that in itself really helps me.”
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Dan

Living with TIO

The Challenge of Misdiagnosis
At 50 years old, I was a healthy, strong workaholic – until everything changed.
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David

Living with XLH

Living Life to the Fullest
“My condition did not limit me prior to the diagnosis, and I was determined that it would never hold me back.”
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Eileen

Raising a Child with LC-FAOD

Letting My Child Spread His Wings
“My biggest challenge is slowly, but surely, letting my teenager take over his own care. I don’t know what the future will bring, but it is my duty to help him be independent.”
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Lisa

Raising a Child with Glut1 DS

Being My Son’s Advocate
“Talk to your doctor if something doesn’t seem right, and don’t shy away from difficult questions. Nobody knows your child better than you.”
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Tara

Living with GNE Myopathy

A Pathway to Hope
“If I had to give advice to others with this condition, or any other rare disease, it would be to not let your disease stop you.”
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Maureen

Raising a Child with Glut1 DS

Life with Glut1 DS
“I think it’s imperative that you advocate for your child with any kind of illness, especially with a condition where there’s little known about it.”
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