- By Jodi Tahsler
- Posted August 19, 2024
From Lynch Syndrome Diagnosis to Advocacy: A Patient and Genetic Counselor Reconnect
In honor of Patient Advocacy Day, Ambry connected with a genetic counselor and one of her former patients to find out how genetic testing made a difference for his healthcare and inspired him to advocate for other patients. Ofri Leitner, MS, LCGC, is a genetic counselor who currently manages the Oncology Genetics Program at UNC Rex Cancer Center…
- By Elizabeth Chao, MD, FACMG
- Posted February 29, 2024
10 Ways Genetic Laboratories Can Support the Rare Disease Community
Rare diseases are not as rare as one might think—there are more than 6,000 identified rare diseases affecting over 300 million people worldwide. Over 70% of rare diseases have a genetic cause, and as a leading commercial laboratory, we understand the important role we play in the rare disease community. Every day, we provide genetic test results…
- By Catherine Schultz, MS, CGC
- Posted February 26, 2024
From Awareness to Action: Supporting Rare Disease Today and Everyday
February 29th, the rarest day in the calendar, serves as a beacon of hope and solidarity for those affected by the rarest of diseases. Rare Disease Day is dedicated to raising awareness about rare diseases and the millions of individuals around the world affected by them. It is also a time to shine a light on the incredible work being done by…
- By Meagan Farmer
- Posted September 27, 2023
Ambry Spotlight: BRCAResponder Amy Byer Shainman
Amy Byer Shainman, also known as BRCAResponder, is a patient advocate, author, and producer who provides support and education related to having a pathogenic variant in BRCA1/2 or other cancer predisposition genes. We connected with her ahead of National Previvor Day and Hereditary Breast and Ovarian Cancer Week. Amy’s sister was diagnosed…
- By Jodi Tahsler
- Posted June 13, 2023
Outlier: Runi Limary Let Her Voice Be Heard on BRCA Gene Patents
When it comes to breast cancer, Runi Limary has more personal experience than average. She not only spent time working at a nonprofit for people with breast cancer, but she was diagnosed herself at the young age of twenty-eight. When ACLU lawyers reached out to her about the court case regarding BRCA1 and BRCA2 patents to see…
- By Lisa Kindel
- Posted November 15, 2022
Live Life Proactively: Trinity Chappelear Shares Life Post-ATM Mutation Diagnosis
The adage “knowing is half the battle” describes Trinity Chappelear perfectly. Her dear friend Brandi Preston lost her mother to breast cancer at age 14, spurring Preston to start The Kamie K Preston Hereditary Cancer Foundation, based in Omaha, Nebraska. The non-profit is devoted to educating and supporting awareness for genetic testing to…
- By Jodi Tahsler
- Posted November 10, 2022
A Q&A with My Faulty Gene founder Kathy Baker
My Faulty Gene is a nonprofit organization that provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. They believe that everyone in need of genetic testing should have access to it. We sat down with Kathy…
- By Giana Stanigar
- Posted May 18, 2018
Why 37 is Just a Number: Thriving with Cystic Fibrosis
Editor’s Note: We continue our recognition of Cystic Fibrosis Awareness Month by connecting two people with cystic fibrosis – one who is under the usual life expectancy age and another who has surpassed it by 26 years – to provide a reflection into their pasts and a look into their futures. Ambry arranged for a video conference…
- By Nicole Schweppe
- Posted October 18, 2017
My Breast Cancer Journey, Part 2- How I Prepared for Chemotherapy
I like to prepare for the worst but hope for best. When I started chemotherapy for my breast cancer, I knew what it meant for my hair and body. I was aware of the side effects and what each cycle could bring. To physically get my body ready for chemo I did a few things that might sound trite or shallow, but I knew they would help me feel somewhat…
- By Karen Malkin Lazarovitz
- Posted September 21, 2017
How I Lost My Lady Parts But Gained So Much More
My story begins more than 9 years ago, when my father called me to say was having genetic testing. His cousin had just been diagnosed with ovarian cancer and had a known BRCA mutation. Many people I’ve spoken with have no idea that they can inherit this from their father, but I did. It is vitally important to meet with a genetic counselor before…