Navigating the Unknown: A Story of Resilience, Hope, and Advocacy in Rare Disease

Study Finds One in Four People With Sarcoma Carry a Pathogenic Variant: Why Germline Testing Matters

SMARCA4 Pathogenic Variants: Gynecological Cancer Histories from a Laboratory Tested Cohort
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Navigating the Unknown: A Story of Resilience, Hope, and Advocacy in Rare Disease
  • Brittaney Carpenter
  • February 18, 2026

Brittaney Carpenter is the type of woman who does it all and makes it look effortless—small business owner, wife and mother of three, and an accomplished multitasker, managing career, household, kids, a flock of chickens and a dog. She joined us for Rare Disease Month to talk about the birth of her son Emmett and what it was like to learn he …

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The Gene Scene: RPE65

  • February 17, 2026
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The Gene Scene: LMNA

  • February 10, 2026
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The Gene Scene: KCNH2

  • January 27, 2026
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The Gene Scene: APOB

  • January 20, 2026
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The Power of Progress: Philip's NF1 Clinical Trial Experience
  • Meagan Farmer
  • May 22, 2024

We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …

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Navigating NF1: The Moss Family’s Story of Resilience and Hope

  • May 16, 2024
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Transforming Fear into Action and Advocacy: Our Family’s Lynch Syndrome Story

  • March 22, 2024
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Peace of Mind: Michelle Majewski Trusts the Patient for Life Program to Share Answers for Her Son Owen

  • November 14, 2023
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Passing on a Legacy of Health: Ben Huebsch Shares His BRCA Story for Men’s Health Week

  • June 14, 2023

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