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.

The following stories are in the words of the individuals featured. If you would like to share your personal story, please click here to contact us.

Jonah

Glycogen Storage Disease Type Ia (GSDIa)

Knowing Your Needs
“As I got older, I started learning how to listen to my body to know when I needed something.”
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LC-FAOD Community Voices

Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

You Are Not Alone
“We may be kilometers apart, but I’m walking the same path as you.”
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Tiffany and Wil

Duchenne Muscular Dystrophy (DMD)

Embrace Every Moment
“In the beginning, we focused on what he was going to lose. Once we saw what he provided to those around him, Duchenne became just a part of who he is rather than his whole identity.”
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Myriam and Victoria

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Diets, Fears, Dreams, and Love
“We are parents, not doctors, but we fight for our children.”
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Regina

Creatine Transporter Deficiency (CTD)

#RareStrength in Caregiving
“It takes a village to raise a kid, and in my experience with rare disease, it’s actually taken several villages.”
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Ann

Tumor-induced Osteomalacia (TIO)

Achieving Balance
“It’s okay to say, ‘I’m having a really hard time,’ but within that to say, ‘Are there little things I could do to start to make it better?'”
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Mason

Angelman Syndrome (AS)

Finding an Answer
“I’m incredibly hopeful for what the future holds and excited to brag about all of Mason’s future accomplishments.”
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Colin

Angelman Syndrome (AS)

The Power of Community
“While Colin continues to put in the work to be the best he can be, our community continues to fundraise and push research in a forward direction.”
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Marah

X-linked Hypophosphatemia (XLH)

Change in Perspective
“Nobody has the same story, but I hope siblings of those with rare conditions will take comfort in knowing that they are not alone.”
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Franco

Creatine Transporter Deficiency (CTD)

Strength in Family
“We don’t know where this new path is going to take us, but we will be with him every step of the way.”
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Michelle and Jake

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Managing an Invisible Disease Together
“It’s a very complicated disease, and it can be frustrating, but I couldn’t ask for a child to deal with this any better.”
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Braylee

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Facing the Unknown
“As parents, our goal was to make sure Braylee knew about her body and understood that everyone is different.”
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Helen

Mucopolysaccharidosis Type VII (MPS VII)

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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Cheryl

X-linked Hypophosphatemia (XLH)

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

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Facing Challenges
“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

Tumor-induced Osteomalacia (TIO)

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

X-linked Hypophosphatemia (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 and John

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)

Becoming Independent
“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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OTC

Ornithine Transcarbamylase Deficiency

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

Osteogenesis Imperfecta (OI)

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

Wilson Disease

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

Glycogen Storage Disease
Type III

Coming Soon
If you would like to share your personal story, please click here to contact us.
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CDKL5 Deficiency

CDKL5 Deficiency

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