Rare diagnosis

We are actively collecting and updating new stories. We welcome you to check back often, and to share your story. If you or someone you know has a story to share, please contact us to add your story.

Share Your Story

Select a Category to View Stories

Most Recent Stories

Valorie: Cockayne syndrome

" target="_blank">Listen to Story Read Story

Valorie’s son Jace was a typical infant. Around 12 months, his head measurements were falling behind, and he was diagnosed with Microcephaly. He also had a severe sensativity to the sun. Hearing there was a correlation with the two, Valorie sent a skin biopsy to a specialist in England who was able to confirm that Jace had Cockayne syndrome. Valorie had to push doctors and insurance companies to get the procedures and care that Jace needed. Valorie learned to become a fierce advocate for Jace.

[...]
Read More

Maria and Brandon: Chromosomal Deletion 9Q

" target="_blank">Listen to Story Read Story

While Maria was pregnant with her son Chase, a prenatal ultrasound revealed a cleft lip and some umbilical cord abnormalities.

After Chase was born, testing revealed he was missing part of a 9th chromosome on the Q branch, known as Chromosomal Deletion 9Q.┬áChase is the only known person with this condition, in it’s severity, in the whole world.

[...]
Read More