- By JoeyLynn Nolan
- Posted February 25, 2026
Joey’s Story: A Mother’s Reflection for Rare Disease Month
Not only during Rare Disease Month, but every day, I think of my son Joey. He was only with us for seven months, but he changed our lives in ways that are hard to put into words. I share his story to honor him, and to help others understand TBC1D24 disorder, a condition so rare that most families don’t hear its name until it becomes…
- By Brittaney Carpenter
- Posted February 18, 2026
Navigating the Unknown: A Story of Resilience, Hope, and Advocacy in Rare Disease
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…
- By Liam Riddle, MS, CGC
- Posted February 28, 2025
From Odyssey to Answers: How Progeny Helps Improve Rare Disease Care
At some point in life, everyone will seek medical attention for themselves or a loved one. Often, the cause for concern isn't immediately clear, marking the beginning of what could be a rare disease journey. Each year on the final day of February, Rare Disease Day raises awareness for these individuals and their experiences. As genetic counselors,…
- By Meghan Towne, MS, CGC, LCGC
- Posted February 19, 2025
Three Benefits of Ordering Exome Testing as Trios
Exome sequencing, which assesses the protein coding sections of all ~20,000 genes, is an effective genetic test for a variety of clinical indications, but especially for children with neurodevelopmental disorders. Because the testing range is so broad, it is important to have as much supportive evidence as possible to efficiently identify clinically…