Itching & Scratching – a Column by Sophie Bourton

A few years ago I received an unexpected phone call from Birmingham Children’s Hospital here in England. Action Medical Research, a British charity working to…

We had a breakthrough this week with our 4-year-old daughter, Eva, who has progressive familial intrahepatic cholestasis (PFIC). I think we’ve finally found the…

This year, the U.K.’s National Health Service is marking the 30th anniversary of the establishment of its Organ Donor Register, which was founded to…

It’s been a special week in our household as our daughter, Eva, started preschool. We were brimming with pride as she held her new teacher’s…

After our daughter Eva was diagnosed with the liver disease progressive familial intrahepatic cholestasis (PFIC), we chose in vitro fertilization (IVF) with preimplantation genetic…

Alongside our daughter Eva’s diagnosis of progressive familial intrahepatic cholestasis (PFIC), we learned that our future children would have a 25% chance of having…

One difficult thing about a rare disease is that there are so many unknowns, and it’s not always obvious where the answers can be found.

My childhood neighbor was a university lecturer. One of my earlier memories of her is when she told me, “Sophie, you aren’t nosy. You’re inquisitive,…