Rare Disease Day 2024

Rare Diseases affect millions of people worldwide, it’s great that we can spend today raising awareness.

tranScrip’s Stacey Godfrey has shared her story with how rare disease affects her family’s life:

“My family has been part of the rare disease community since my eldest daughter was diagnosed with the rare inherited metabolic disorder Phenylketonuria (PKU) shortly after her birth, nearly 15 years ago. I now have a 2nd daughter, aged nearly 11, who also has PKU. People with PKU cannot metabolise the amino acid Phenylalanine, which then builds up in their blood and brain, causing significant and irreversible damage to the brain and nervous system if not detected and treated. PKU affects around 1 in 10,000 babies born in the UK and is diagnosed via the newborn blood spot screening programme, known as the “heel prick” test, at around 5 days old. Treatment for PKU in the UK is centred around a severely restricted, low-protein diet to keep levels of phenylalanine within a safe range. Medicinal products that help some patients have entered mainstream use in many countries over recent years; however, they do not work for all patients, especially those with the most severe form of PKU, which is what my children have.

Recognising the challenges that the rare disease community faces in being heard and having equal access to resources, funding for research and support, and ultimately treatment and cure is really important to our family and that’s why we’re supporting Rare Disease Day on February 29^th.”

Find out how you can support Rare Disease Day here > https://www.rarediseaseday.org/