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.
Personal stories
The McMahon story
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…
Louis' story
At just five months old, Louis was diagnosed with a terminal and very rare condition known as 'Leigh disease'. …