Episode Description
ONCE UPON A GENE - EPISODE 174
A Rare Collection - To the Moon and Back
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
Nicole Wright
After many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, seizures and developmental delays have worsened and multiple hospitalizations led to long recoveries. We have grieved McCall's initial diagnosis and we try to allow ourselves room to grieve the life we had envisioned for McCall. She can't enjoy simple things like school and gatherings. We will love and celebrate her no matter what, but we can see pieces of her fade without return. We will never stop fighting to get those pieces back through therapy and eventual life-changing treatments we know will come.
Kevin Alexander
Until I produced a documentary called My PKU Life, I was completely cut off from the PKU and rare disease communities. I was isolated. I knew no one like me and few people understood the challenges I faced. When I engaged with the community, a new world opened up to me. Life was different than before, and I knew it would never be the same after. It's been incredible to meet so many parents in our community. It's humbling to hear how they discovered my film after receiving their child's diagnosis and how it gave them hope. I still get messages like that and one of the best parts is seeing the love that parents have for their children with a rare disease— they sacrifice every day. Some have left their careers behind, created amazing organizations, held fundraisers and raised incredible amounts of money for research. On behalf of all of us, the children and adults living with a rare disease, thank you.
Rhonda Thorington
I never fully comprehended my capacity to love until I had children of my own. One of my three children was four years old when she got sick and was diagnosed with mixed connective tissue. Raya loves to dance and has taken lessons since she could walk. When the disease impacted her mobility, she required high doses of steroids and one of the side effects was a 25 pound weight gain. She had greater mobility, but she was unrecognizable. Dance costumes that were ordered in the fall didn't fit by the time they arrived for the spring recital, and she had missed months of dance classes because she was too sick to go. I thought this disease robbed my daughter of her love for dancing, but I couldn't be more wrong, thanks to everyone else who loves Raya too.
Rachel Heilmann
It is often said that grief is caused because you love someone so much, it hurts when they leave. When Rory was born, I knew she was different, exceptional, that her life would change our lives forever. I didn't know why or how deep that transformation would be. When she died from NARS1 disease, the gaping wound left by her worldly exit was indescribable. Charlie had to understand death at six. I had to understand it at 38, and we are both still learning how to live in love with the same fearlessness as we had before Rory died. The love and memories between Charlie and I continue to flood the emptiness left by the grief of Rory's death. For these precious moments, I’m so grateful, to the moon and back.
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