Patient ‘Ariana’ was a completely healthy baby until the age of eight months.
Patient ‘Ariana’ was a completely healthy baby until the age of eight months, when she began experiencing seizures, would suddenly stop breathing (apnoea) and
lost developmental skills.
She was admitted to intensive care, where she was resuscitated many times. Despite countless tests, Ariana’s doctors could not find the cause of her illness.
Genomic sequencing through the Alliance identified the mistake in a gene that made Ariana’s cells unable to transport riboflavin (vitamin B2) around her body. This condition, riboflavin transporter defect, is entirely treatable.
Ariana was treated with riboflavin and discharged from hospital after 179 days.
She is now back home and living a normal life thanks to a simple, regular dose of riboflavin.
Ariana’s rapid genomic sequencing test meant we could deliver her result in 21 days, instead of the standard 4 months.
For Ariana and her family, this meant 115 fewer days in intensive care. For the healthcare system, this meant a saving of around $517,500.
Genomic sequencing delivered a diagnosis that otherwise may never have been made.
It saved Ariana’s life.