Jonah NeufeldGene: PARN

Jonah Neufeld
Gene: PARN

Jonah is a 7-year-old bundle of energy and enthusiasm who is challenged by short telomeres. Since birth, Jonah has struggled to meet standard milestones, especially in terms of language and psychomotor skills. An early diagnosis of pontocerebellar hypoplasia (PHC) was...
Remembering Dristin FranklinGene: Unknown

Remembering Dristin Franklin
Gene: Unknown

Dristin Franklin was born July 13, 2001, he was a happy child and was very active. He enjoyed playing soccer, football, riding bicycles and dirt bikes. He loved children and was so sweet and respectful to all young and old. When he was young, we just thought he had...
Remembering Dominic CoffeyGene: DKC1

Remembering Dominic Coffey
Gene: DKC1

Dominic aged 33 was the most gentle soul you could ever meet and to those lucky enough to be in his life were truly blessed with the love and support he gave them while fighting his own battle daily. I know I speak for all my family when I say he truly was the bravest...
Remembering Chad CarsonGene: RTEL1

Remembering Chad Carson
Gene: RTEL1

My husband, Chad, was a super healthy person who suddenly became super sick. Although we had known for a decade that Chad’s liver was deteriorating for mysterious reasons, he still felt well enough to bike to work every day and travel the world with me and our...
Amanda CurryGene: TERC

Amanda Curry
Gene: TERC

My mom passed away when I was 9 from complications of aplastic anemia and liver cirrhosis. During her time, she was only ever told her aplastic anemia was idiopathic. I was diagnosed with Dyskeratosis Congenita (TERC mutation) at 29, after begging and fighting with...