• 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 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 …


  • 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 …


  • 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 …


  • By Cynthia Rigali Lund
  • Posted September 18, 2017

Life After Chemotherapy and Surgery for Ovarian Cancer

September is Ovarian Cancer Awareness Month and it’s a wonderful way to encourage women to create a deeper consciousness about their bodies. As I approach my five-year survivor date—the closest marker we have to saying “cured,”  I can say with deepest gratitude how much I appreciate my body and all that it does for me, as well as how much …


  • By Tiffany Au
  • Posted September 6, 2017

Why we Believe in the Power of Patient Voices

At Ambry Genetics, we appreciate our collective tribe of scientists, researchers, and academics who focus on uncovering the ‘how’s and ‘what’s in the world of genetics. However, we also strongly believe that the community within our industry, and their stories, are the why behind what we do. Whether you are a patient, healthcare provider, …


  • By Randalynn Vasel
  • Posted September 5, 2017

5 Ways my Friends and Family are Helping my Kids While I Battle Ovarian Cancer

Battling ovarian cancer is HARD.  It’s humbling and some days it forces you to use every ounce of energy you have to lift your head off the pillow.  Ovarian cancer doesn’t discriminate and hits out of nowhere, with no warning.  As a mother of two young children, it wasn’t just difficult for me - the diagnosis, surgeries and treatment affected …


  • By Randall Kam
  • Posted September 1, 2017

Fit for the Fight: How I Ran 17 Marathons with Prostate Cancer

CANCER - I had a deep, visceral fear as my father, aunts, brother-in-law, mother-in-law, and father-in-law were stricken byt he disease over the years. In an effort to avoid being struck as well, I tried to stay healthy: running often, eating a low carb diet full of veggies and lean protein. In 2010, I took my first PSA (prostate specific antigen) …


  • By Kathryn Carr
  • Posted July 14, 2017

The Benefits of Practicing Yoga as Therapeutic Recreation

*Editor’s Note: July 8-15th is National Therapeutic Recreation Week, which aims to raise awareness of therapeutic recreation programs and services that can improve the health and well-being of individuals with physical, mental, and emotional disabilities. Kathryn Carr, Ambry’s resident Marketing Specialist and yoga instructor, …


  • By Eve Mart
  • Posted June 22, 2017

Do-It-Yourself Support Systems for Cancer Survivors

  When I was originally diagnosed with breast cancer in 2008, I sought out a multidisciplinary approach to battle my illness, after learning that outcomes tend to be more favorable when compared to following traditional approach. As part of this dynamic approach, I met with various medical and social services professionals. I met with a social …


  • By Cynthia Rigali Lund
  • Posted June 8, 2017

Things I Know for Sure this Cancer Survivors Month

  *Editor’s Note: June is National Cancer Survivors Month, and Ambry Genetics will be celebrating cancer survivors as well as their families and communities by sharing their inspiring stories.   Although part of me wants to forget, I hear the whispers every day. As a cancer survivor of 4 ½ years, June is a special month that commemorates …


  • By Giana Stanigar
  • Posted May 24, 2017

Beating the Odds Together, For Life

Editor’s Note: To support Cystic Fibrosis Awareness Month, we are sharing the inspiring story of Zack and Farrel DeBaltzo, two individuals living with CF that chose to defy convention and pursue a romantic relationship, eventually getting married. Zack and Farrel are the founders of Team Debo, a social media project centered on their passion …


  • By Jonathan Rodis, MBA
  • Posted May 11, 2017

Living with Marfan Syndrome: Part 2 of 2

It’s now 1990, and I’ve now had my life-saving heart surgery. After spending nearly a month in the hospital with health complications, I was finally able to go home. After another month at home trying to recover, I decided to head back to work to continue the job and career that I worked long and hard to achieve in executive management and …


  • By Tiffany Au
  • Posted April 20, 2017

What is it Like to Have a Son with Autism?

Editor’s Note: As National Autism Awareness Month continues, we conclude our 2-part interview we began with Kieran Best, a young man with an autism spectrum disorder. His mother, Christina DeRochemont, shares candidly about what life was like early on with Kieran, how they received his diagnosis, and offers tips for other parents in a similar …


  • By Jonathan Rodis, MBA
  • Posted April 13, 2017

Living With Marfan Syndrome- Part 1 of 2

Editor’s Note: We are so pleased to continue introducing new voices into the Ambry patient blog. This week we are honored to have Jon Rodis, patient advocate, tell us what it was like to be diagnosed with Marfan syndrome, an inherited condition that can cause heart problems, many years ago – well before genetic testing became available …