Sophie Cowling gave her birth to her daughter Eva in 2020 almost one year ago at Hereford Hospital. Soon after Eva was born, she became incredibly thin and was hospitalised for much of the first three months of her life with “failure to thrive”. After months of intensive testing, she was diagnosed with Progressive Familial Intrahepatic Cholestasis (PFIC) a very rare genetic disease.
Sophie tells us more “The disease causes liver failure in children and currently has no effective treatment options. Without a fully functioning liver Eva was unable to store nutrients becoming thin, and deficient in nutrients needed for growth and bone development. Eva suffered from stunted growth and her head soon became disproportionate to the rest of her body”
Sophie added “The disease gets progressively worse as the child ages and in the future Eva is likely suffer from debilitating itching, stopping her sleeping and interfering with her education, social life and prospects for work and development for the future. The disease leads to liver failure and the need for a liver transplant (two thirds of children require a transplant by the age of 10) as well as increased risk of cancer. Transplants are associated with long surgery, hospital stays, risks of complications and risk of infections as well as continued medical intervention and medicine for life. The uncertainty of finding a donor is a constant worry for her parents.
In the USA and European Union, the first medication to treat PFIC Odevixibat, has been approved but sadly the National Institute for Health and Social Care Excellence (NICE) have released their initial consultation documents, denying approval of the drug Odevixibat to be used in the UK, largely due to funding”
Sophie continues “Odevixibat would vastly improve Eva’s quality of life and delay or even prevent the need for a liver transplant, giving her the best chance at a long fruitful life. Eva’s parents are part of a very small community of patients dealing with an illness that is poorly understood and does not receive much attention or research. We are campaigning for NICE to reconsider their decision as part of the consultation that is open until the 7th of October, anyone can submit a response to this consultation, and we have also set up a change.org campaign, which we urge people to sign”
Here is the link to the petition -> Petition · Fund Odevixibat to help prevent progression of PFIC in children in the UK · Change.org
