• 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 Marla Rosenblum
  • Posted March 21, 2018

A Mother's Letter to Her Daughter After Waiting 16 Years for a Diagnosis

Unedited. Untouched. Raw Emotion. Raw Love. Dear Aubree Bella, My Rare Girl: Ahhh sweet 16. And what a journey. You entered this world so very sick. Beating the odds and surviving. Looking into your eyes as I held you for the first time in the NICU, there was something about your eyes. My “mommy heart” knew they held the answers. I …


  • By Britt Ochoa
  • Posted March 14, 2018

My 100th Round of Chemo and How it Touched my Soul

The news of a cancer diagnosis can demolish the reality in which you currently reside.  My reality was spent at twenty-seven-years-old when I was diagnosed with Stage IV Colon Cancer.  It was an upheaval to the life that I had so customarily taken advantage of. It was taking a health crisis to shake up the frozen patterns of my former ways.  Of …


  • By Eleanor Meghan Cary Brown
  • Posted March 8, 2018

No Colon, No Cancer: I Fought for the Life I Deserved.

I never thought I’d hear the “C” word. Newly married and about to start my graduate degree, everything seemed bright.  That is until a routine colonoscopy discovered severe high-grade dysplasia. My doctor explained that he was confident it would eventually manifest into cancer and urged something be done.  With the click of the phone, I …


  • By Amanda Sheldon
  • Posted February 28, 2018

Finding the Missing Link of Heart Disease in Families: Familial Hypercholesterolemia (FH)

Many people have friends and family members who tell stories of losing their father when he was 40, or having a mother who had a heart attack in her 30s. These same people may even know that they have high cholesterol, and sometimes are told it is inherited. What they don’t know is that this condition could be familial hypercholesterolemia (FH) …


  • By Linh Ngo
  • Posted February 27, 2018

Part II: Marfan Syndrome and the Unknowns of Genetic Testing

But genetic testing is not a final exam. It is only the beginning. Linh NgoWriter, wanderer, science rambler Editor's Note: As part of Marfan Syndrome Awareness Month, we are reposting this blog from sciwalkcafe.org with the author's permission. This is Part 2/2. Part 1 can be viewed here. People tend to think about genetic …


  • By Aaron Schmidt
  • Posted February 12, 2018

Science in 60 - Genetic Testing and Familial Hypercholesterolemia - (FH)

Editor’s Note: Science in 60 is a new video series from Ambry in which our researchers will give a brief overview of how genetic testing can help everyone understand disease. In this inaugural segment, Ambry genetic counselor Tami Johnston, MS CGC, looks at how genetic testing can improve the diagnoses and treatment plans for patients with …


  • By Linh Ngo
  • Posted February 8, 2018

Marfan Syndrome and the Unknowns of Genetic Testing

Editor's Note: As part of Marfan Syndrome Awareness Month, we are reposting this blog from sciwalkcafe.org with the author's permission. This is Part One, the post will be concluded later in the month. I have Marfan syndrome. Everyone and their moms know it. I am tall and lanky. My fingers are spindly and my lenses are dislocated. I …


  • By Benjamin Feldmann
  • Posted February 5, 2018

American Heart Month: It's All in the Family

February is American Heart Month, so what better time to consider not only your own heart health, but that of your entire family?  Just as we share common traits with our relatives such as eye and hair color, we may unknowingly share a genetic pre-disposition to cardiovascular disease.  Conditions such as arrhythmias, cardiomyopathies, aortic …


  • By Beth Kuhn
  • Posted January 30, 2018

How I Got Ahead of Cancer After Learning About My BRCA2 Gene Mutation

After watching my mom and aunt battle bilateral breast cancer - which included chemotherapy, radiation, mastectomies (surgical removal of the breast(s)), and all the physical and emotional anguish that accompanies it – I learned that I carry a BRCA2 gene mutation. It runs in our family. I was told that my inherited BRCA2 mutation …