Patient Stories

Patients are at the forefront of everything we do. Every day, we strive to make a life-changing impact in the lives of patients with rare disorders. We invite you to meet our patients and their families and hope that their stories inspire you as much as they have inspired us.

Maddox's Story

Maddox from the UK was diagnosed with HPP as a newborn. His mother, Meryl, tells their story of the struggles of living with a rare disease.

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Suzanne's Story

Suzanne from the UK was diagnosed with PNH at 10 years old. She tells her story of living with an ultra-rare disease.

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Petra's Story

Petra and her husband Norbert from Germany tell their story of a lifetime with a rare disease. Petra was diagnosed with HPP at 25 years old.

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Albie's Story

Albie from the UK was diagnosed with LAL-D as an infant. His mother, Charlotte, tells their story of the challenge in receiving a diagnosis of a rare disease.

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