A Rare Collection – Easier Said Than Done

Once Upon A Gene

A Rare Collection – Easier Said Than Done

August 11, 2022

A Rare Collection – Easier Said Than Done


A Rare Collection – Easier Said Than Done

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. 


Katie Stevens, Executive Director of Team Telomere

It’s back to school season which has me thinking about how the education system so often fails the most vulnerable children. In 2015, we moved from Idaho to Boston. My son was set to be the sixth patient in the world to undergo a clinical trial for people with Telomere Biology Disorders. We had been searching for the best treatment for my son for years. His body was no longer able to fight viruses and infections, he couldn’t stop bleeding and he didn’t have enough red blood cells to keep him from feeling easily winded. He was a 12 year old boy whose day-to-day was filled with worry and he just wanted to be “normal”. Getting your child an education when critically ill or disabled is easier said than done. I’m thankful for the teachers that stood up for my child. Education for the most vulnerable children of our society shouldn’t be dismissed. 

Parvathy Krishnan, Foundation Alliance Manager at Global Genes

As a child I was always told nothing was impossible and everything would be okay if I saw the positive. I truly believed the ups and downs of life were part of the journey and I just had to see the positive. When I had my first child, I had my parenting journey mapped out and anticipated ups and downs. It was instead filled with potholes, car crashes and train wrecks. It was hard to see the positive when everything seemed bleak. Through our diagnostic odyssey, and through various aggressive treatments taking place concurrently for both of my children, it was hard to find the positive and I felt like I was failing. Hope was a mirage. I felt a medical breakthrough was the only positive that would give me closure. But I was wrong. A smile from my children was the positive I needed. While it’s easier said than done to find the positive, even when it feels impossible, remember to turn on the light and hope that this too shall pass. 

Becky Tilley, Koolen De Vries Syndrome

I’m a passionate writer and advocate. In all the articles and blogs I’ve written, you’ll see the common sentiment to celebrate your uniqueness, be yourself, and enjoy being you. In real life, that’s challenging to do. The symptoms of Koolen De Vries Syndrome that myself and my two youngest children share can vary from mild, to moderate, to severe. I grew up with learning disabilities. I was an easy target for bullies. I never learned what it was to love and celebrate what made me different and this is something I want for my children. I want them to be empowered in who they are. For them to do that, I need to be an example, especially as a mom that shares the same syndrome. I feel a responsibility to them to celebrate being unique and inspire my children to do the same.





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