Rare Community Profiles: When Sierra’s Son Was Diagnosed with Warsaw-Breakage Syndrome (WABS), She Knew She Needed to Make a Difference
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Rare Community Profiles: When Sierra’s Son Was Diagnosed with Warsaw-Breakage Syndrome (WABS), She Knew She Needed to Make a Difference

  Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…

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A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)
Photo courtesy of Sharon and Katie Brown

A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 1)

Katie Brown, age 15, loves learning Spanish, swinging, and special effects makeup. In the future, she is considering a possible career as a writer or a special effects artist; she…

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Learning to Live with Spontaneous Periodic Hypothermia: Lachlan’s Story (Pt. 2)
Photo courtesy of the Lasikiwiecz family

Learning to Live with Spontaneous Periodic Hypothermia: Lachlan’s Story (Pt. 2)

Before you read on, make sure to check out Part 1 of our story. In Part 1, Lachlan's mom Donna discusses the long diagnostic journey, what symptoms Lachlan was showing, and how…

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Learning to Live with Spontaneous Periodic Hypothermia: Lachlan’s Story (Pt. 1)
Photo courtesy of Mark, Donna, and Lachlan Lasikiewicz

Learning to Live with Spontaneous Periodic Hypothermia: Lachlan’s Story (Pt. 1)

When Lachlan Lasikiewicz turned gray one day, his lips a frightening blue, his grandma and aunt didn’t panic. They simply wrapped him up in a blanket and held him close,…

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Writing the Book: How Nicole’s Journey Continues to Raise ALPS Awareness (Pt. 2)
Photo courtesy of Laura Martone-Roublick

Writing the Book: How Nicole’s Journey Continues to Raise ALPS Awareness (Pt. 2)

Before you read, don't forget to check out Part 1 of our interview with Laura, Nicole's mom. In Part 1, we discuss Nicole's diagnostic journey, what acute lymphoproliferative syndrome (ALPS) is,…

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A Ray of Sunshine: Alex Gaudlap’s Efforts to Raise Awareness of the Ultra-Rare VAMP2 (Pt. 2)
Raymond and Alex in 2022. Photo courtesy of Alex Gaudlap

A Ray of Sunshine: Alex Gaudlap’s Efforts to Raise Awareness of the Ultra-Rare VAMP2 (Pt. 2)

Before you read on, don't forget to check out Part 1 of our interview. In Part 1, Alex discusses the multi-year diagnostic odyssey to discover that Raymond has VAMP2. Today, we talk…

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A Ray of Sunshine: Alex Gaudlap’s Efforts to Raise Awareness of the Ultra-Rare VAMP2 (Pt. 1)
Raymond and Alex in 2022. Photo courtesy of Alex Gaudlap

A Ray of Sunshine: Alex Gaudlap’s Efforts to Raise Awareness of the Ultra-Rare VAMP2 (Pt. 1)

In the United States, rare diseases are defined as those affecting fewer than 200,000 people. In the cases of ultra-rare conditions, there is often even less research, less resources, and…

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Don’t Forget to Wear Denim and Gold Tomorrow for Bohring-Opitz Syndrome Awareness Day!
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Don’t Forget to Wear Denim and Gold Tomorrow for Bohring-Opitz Syndrome Awareness Day!

Tomorrow is Bohring-Opitz Syndrome (BOS) Awareness Day! If that illness doesn't sound familiar to you - you're not alone. BOS is a very rare disorder; so rare that estimates number at…

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