Rare Disease News

The Healing Power of Movement: Lena’s Rare Disease Story

Published May 26, 2023 by NORD

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Patient Stories

By Lena Z. I was born with two rare diseases: medullary sponge kidneys (MSK), a birth defect where changes occur in the tiny tubes inside a fetus’ kidneys, and hypermobile Ehlers-Danlos …

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Undiagnosed: When Your Child Is Misdiagnosed

Published April 29, 2023 by NORD

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Patient Stories

By Jessica F. This story is about Sophie, my now 10-year-old daughter who is impacted by limb girdle muscular dystrophy type 2A/R1, previously misdiagnosed and treated for necrotizing myositis. Sophie’s …

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Undiagnosed: When Your “Depression” Isn’t Depression

Published April 29, 2023 by NORD

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Patient Stories

By Kylee S. This story is about me and my long journey to a diagnosis. Although I might have had mild symptoms as a child, it was nothing noticeable. My …

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Undiagnosed: When Your Rare Diagnosis Comes 30 Years Late

Published April 29, 2023 by NORD

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Patient Stories

By Rachel O. I was born rare, but my zebra journey did not begin until just five years ago at the age of 32. Throughout those 32 years, I faced signs …

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Sparking Conversation: Nick’s Story in Honor of Rare Disease Day

Published February 28, 2023 by NORD

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Patient Stories

I’m a patient who has had an interesting history stemming from a neonatal stroke. I was born with a neonatal stroke that caused concerns for microcephaly, I was growth restricted, …

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Banding Together as Zebras: Merry’s Story in Honor of Rare Disease Day

Published February 28, 2023 by NORD

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Patient Stories

I’m the mama of two ladies who have autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). We noticed symptoms at 5 years old with the first one. We went through extensive …

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The Privilege of Diagnosis and Treatment: Michelle’s Story in Honor of Rare Disease Day

Published February 27, 2023 by NORD

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Patient Stories

I was officially diagnosed with Stiff-person syndrome in 2017, but the onset of my disease was when I was 20. I was in college at the time and had to …

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Writing the Book on Your Child’s Rare Disease: Raymond’s Story in Honor of Rare Disease Day

Published February 22, 2023 by NORD

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Patient Stories

My life was turned upside down when my daughter, Meredith, was diagnosed with Facioscapulohumeral muscular dystrophy (FSHD) in 2003. My son, Jonathan, was subsequently diagnosed with FSHD in 2013. Since …

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Fighting for Barry: Alexis’s Story in Honor of Rare Disease Day

Published February 14, 2023 by NORD

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Patient Stories

My brother, Barry, was born when I was two years old with what we called, at the time, an “unspecified neurological condition.” He faced a host of medical issues, the …

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Rare Resilience: Tracey’s Story in Honor of Rare Disease Day

Published February 7, 2023 by NORD

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Patient Stories

In 2005, I was in a serious motor vehicle accident and sustained a traumatic brain injury (TBI). Before this, I was in the third year of my PhD studies in …

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