P.F.I.C.

Progressive Familial Intrahepatic Cholestasis - a rare genetic liver condition affecting our daughter, Bethany

INTRODUCTION

Our daughter, Bethany, was born on 29th March 2003. It was soon apparent that all was not well. Extensive tests at St James' Hospital ("Jimmy's") in Leeds concluded that she had PFIC2.

This is a recessive genetic condition. Lack of liver function from birth leads to a failure to thrive. Symptoms in the first week of life include swollen abdomen, jaundice and lack of appetite. The condition is fatal. A liver transplant is the only solution. At present there are only about 20 cases in the United Kingdom, although it is more prevalent in Canada and North America. Death normally occurs in mid-teens. Only two documented cases have reached their 20th birthday without transplantation, and these both received transplants shortly afterwards.

Bethany spent most of the first year of her life in hospital, during which the situation was severely complicated twice - when she caught a "Rota Virus" on the ward, and later when a Hickman line into the main artery leading to her heart became infected, when "sterile field" protocol was not followed. She also developed rickets due to a severe calcium deficiency.

Above: Bethany clings to life in hospital (February 2004)

Right: Bethany as she is today, enjoying one of her favourite cheesey biscuits.

Her condition was eventually stabilised. It is expected that she will undergo a liver transplant when she is 9 or 10. Against the expectations of the medical staff, Bethany no longer needs artificial feeding through a naso-gastric tube, and will take her medicines orally. This has enabled us to dispense with the tube, and the painful monthly ritual of changing it.

Although still taking 13 doses of medication per day, and two injections every three weeks, Bethany now attends school full-time, goes to dancing classes and has begun reading.

Bethany's mum, Samantha, tells the full story on the next page of this website. Fortunately our youngest daughter, Eloise, shows no sign of the condition.

P.F.I.C.

Progressive Familial Intrahepatic Cholestasis - a rare genetic liver condition affecting our daughter, Bethany

INTRODUCTION

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