ONCE UPON A GENE - EPISODE 148

A Rare Collection - I Will Never Forget

There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. 

EPISODE HIGHLIGHTS

Elli Brimble

As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family vacation, resulting in an emergency flight home and hospitalization. The response to treatment was immediate, but an epilepsy gene panel result revealed that the spasms were caused by a change in one copy of the FOXG1 gene. Weeks later, Nasha and I would start corresponding about what resulted in a foundation dedicated to funding science and research for FOXG1 syndrome. Nasha quickly became an expert in biology, clinical trial readiness, drug development and fundraising. Today, Nasha and I work as partners, championing the product we built through this shared experience and all the ones that came after. 

Kira Dineen

As a graduate student, studying to become a genetic counselor, I met a couple I will never forget that widened my perspective on rare diseases. In a prenatal setting, we're reviewing family health history and the mother of that baby shares that her biological niece has a rare disorder. The mother wanted to test her baby for the rare disorder her niece had and the father didn't want to do testing during pregnancy. The father highlighted how much joy the niece brought to the family and that he would want to have a child with the same disorder. As a student, it was a turning point to talk to someone who had such a positive and rewarding relationship with someone with a rare disease. I want to see more celebrations of rare diseases like this couple shared with me.

Abigail Turnwald

I'll never forget receiving the first positive genetic test result during graduate school. Just as the parents, I really hoped it would be negative and when I saw the positive result, my heart sank. I dialed their phone number, listened to the rings and hoped they didn't answer because I didn't want to deliver the news. I practiced what to say to make sure I had the words just right. I learned in graduate school that when you give a diagnosis, families will remember the words you said forever. This was the first diagnosis I gave and I will never forget. Some days I still think of the family and wonder if I said the right words and what would have made receiving the news easier. I know when I deliver a diagnosis, lives are forever changed and parents will never forget that moment, and neither will I.

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