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Personal stories

Patients and the parents of patients have kindly shared their personal experience with genomic sequencing. We thank these individuals and families for sharing their stories in order to help others.



The McMahon story

Group of children smiling

Kate McMahon shares her story about what it is like to receive a diagnosis and how the family copes when that diagnosis is so rare.…

Anisa's story

For more than 20 years, Anisa has lived with a neuropathy (nerve disease). The type of nerve disease she was believed to have causes weakness and l…

Heather's story

Group of children smiling

Why would I choose to have my child’s DNA sequenced? …