Mother and Daughter Receive Ultra-Rare Diagnosis
Debra and her daughter Delaney both suffer from major cornea problems that have made them legally blind. Debra also has severe deformations in her hands and feet, and Delaney is beginning to suffer from the same bone and connective tissue problems as her mother. Their combination of physical symptoms fit no known disease, until Chasing the Cure introduced them to a geneticist at the San Diego company Illumina, which sequenced their genome and found they shared a variant on a single gene known as DDR2. That genetic data, combined with Debra and Delaney’s distinctive physical features, identified them as having Warburg-Cinotti syndrome. There are only 6 confirmed cases in the entire world, and Debra and Delaney became patients 7 and 8.
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