'I have rare liver disease which affects only one in a million'

The 25-year-old from Leeds was later diagnosed with a rare liver condition and now she’s sharing her story to mark Rare Disease Day on February 28.

Blood tests revealed an issue with Rachael’s liver and over several months she underwent multiple blood tests, an ultrasound, two MRIs and a liver biopsy as doctors tried to pinpoint a diagnosis.

“I’d never been ill before in my life so to suddenly have so many appointments and tests was quite overwhelming,” Rachael says. “Some days I would be my normal energetic self and then the next day I didn’t even have the energy to get out of bed. I wondered if I’d ever feel normal again.”

An MRI scan showed that Rachael’s bile ducts had narrowed and also dilated and the only way to treat this was to remove the affected area of the liver completely. One third of Rachael’s liver was cut out during surgery in January last year, after which her medical team were able to confirm that she had Caroli Disease, a rare condition which affects just one in a million people and is caused by a problem in the way the liver grows before birth.

A follow-up MRI scan has since revealed that the bile ducts on the other side of Rachael’s liver are now also dilated. Her medical team are investigating whether she also has another rare autoimmune condition called Primary Sclerosing Sclerosing Cholangitis and may need more surgery.

Rachael says: “With a rare condition, you can feel like you’re getting passed from place to place and no one quite knows what to do with you, so you’ve got to fight for yourself and keep chasing for appointments or scans. The British Liver Trust’s Nurse-led Helpline offered great advice about what questions to ask at my appointments and just having someone you can talk to who understands and who knows about medical environments can be extremely useful.”

Rare Disease Day is marked globally each year on February 28 and aims to raise awareness of rare diseases and improve access to diagnosis, treatment and care for those affected.

According to the British Liver Trust, thousands of people in the UK are living with rare liver diseases, many of which can take years to diagnose due to a lack of awareness and limited research.

Pamela Healy, OBE, Chief Executive of the British Liver Trust said: “Rare liver diseases may be less common, but for the thousands of people affected across the UK, their impact is life-changing. Too often, a lack of awareness leads to delayed diagnosis and unequal access to specialist care. We need greater understanding, earlier diagnosis and sustained investment in research to ensure no one living with a rare liver condition is left behind.”

The British Liver Trust is the UK’s leading liver health charity and provides information, support and advocacy for everyone affected by liver disease. This includes people living with rare liver conditions such as autoimmune hepatitis, primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), Alagille syndrome and biliary atresia. For more information, visit www.britishlivertrust.org.uk.

ENDS