The story of Pheobe
Yep, you read it right. Flory has not one, but TWO rare genetic mutations. Because being rare isn’t so rare!
Florence has CLN2 Batten disease which is a mutation in TPP1 gene, causing build up of waste in cells in the brain. Florence is expected to lose all her basic abilities and eventually her life before the age of 12 due to this disease. She receives enzyme replacement therapy directly into the brain every two weeks to slow down the progression of this disease but we still need to find a cure! She is so so brave.
Ververi Brady Syndrome is a de novo mutation in the QRICH1 gene that presents with intellectual disability, hypertonia, dysphagia and mild dysmorphism. This Syndrome is not progressive unlike her other one.
Flory faces many challenges every day, but she is an incredibly strong and funny little girl. Her mummy and daddy will continue to advocate for her every day and pray that one day, gene therapy can cure her CLN2 disease.