The day Ralf got his liver transplant, it felt like the stars had finally aligned.
Daisy and Doug were the last in their families to have children. With many healthy nieces and nephews surrounding them, it didn’t occur to them that their combined genetics could pose any issues.
Their first child Ralf was born with no dramas and hit all his developmental milestones. He was eating and growing well and appeared happy until around six months old his Mum Daisy spotted that his eyes looked a little yellow.
“It niggled me for a while so eventually I took him to the GP. He took my concerns seriously and referred us to our local hospital. Once there they asked me a million questions about our family history.”
Blood tests showed that Ralf’s liver enzyme levels were really high and that he had jaundice. “The Doctors weren’t overly concerned. They thought it was a simple infection as he seemed healthy in all other aspects.”
But it didn’t pass and the jaundice remained persistent.
Three months later, Ralf was referred to specialists at King’s College Hospital in London who decided to arrange genetic testing.
“I didn’t worry about the genetic testing as I didn’t for one minute think that they would find a serious genetic issue in my family. Everyone else in our families was perfectly healthy.”
Genetic testing revealed Ralf had changes to his ABCB11 gene.
“I will always remember that phone call as it changed our lives. Initially I was so relieved as finally we had an answer. We’d been floating around for so long but we’d hit solid ground and now we could make a plan.”
Ralf had a rare genetic liver condition called Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2).
The changes to the ABCB11 gene had caused a build up of toxic bile acid in Ralf’s liver cells triggering jaundice, severe itching and liver failure.
“There was no information anywhere about it. Around the same time Ralf started to deteriorate. He became desperately unhappy and started to itch ferociously. He didn’t want to play and couldn’t sleep. My internal instinct told me something was really wrong.”
Ralf was approaching his first birthday and Doctors at Kings had a clinical trial for children under 1 with liver conditions. Ralf was offered a space on the drug trial which would start immediately.
“We couldn’t have been luckier. It gave us hope, but also an opportunity to educate ourselves about Ralf’s condition and get support from the medical team.”
Despite the drug trial, Ralf continued to deteriorate steadily, and when he was 18 months old he was referred for a liver transplant.
“He couldn’t sleep for more than an hour and his fingertips became bent and a mass of dark bruises as he was itching himself so brutally. He couldn’t focus on anything other than itching. He was so desperately unhappy. Our consultant sat us down and told us we couldn’t continue like this.”
The drug treatment unfortunately hadn’t worked and the family began a long wait for a liver donor. On 12 occasions they were told a donor was available only to find that it wasn’t compatible.
Finding the right liver donor is complicated and all the stars need to align. After two years thankfully they did and Ralf had a successful liver transplant. When he woke up he was immediately free of itching. I hadn’t seen his hands resting and not itching since he was a baby. It was like we had a new child.
Ralf has just celebrated his 5th birthday and is enjoying life at school. Although he still carries the genetic variation, he is effectively cured of the disease thanks to the donation of a healthy liver.
“I can’t describe how incredible the transformation was. He had been so desperately miserable and unable to eat, sleep or play. Now he can do all of those things.”
The psychological impact of Ralf’s illness will take longer to heal for Ralf and his parents.
“I’ve found it hard to get past the fact that as parents we gave Ralf this disease. We had no idea that we were both carriers of this genetic change which had the potential to give our children such a severe disease.”
Daisy and Doug had genetic counselling to support their decision to have another child. When they became pregnant they decided to have a CVS test which checks for genetic and chromosomal conditions by taking a small sample of placental tissue. This would give them a definitive answer if the baby also had PFIC.
“The option to have a CVS test was crucial for us. There was no way I could have bought another child into this world who would suffer like Ralf.”
Dora was born healthy and happy and although she is a carrier of PFIC she doesn’t have the condition.