Doing our part to hasten a cure for our daughter’s PFIC3
Gene therapy is the key to our hopes so she can avoid a liver transplant
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 fund medical research to help unwell children, wanted to speak to parents of children with progressive familial intrahepatic cholestasis type 3 (PFIC3). Our daughter, Eva, has that disease.
The photo of Eva Bourton used for the Action Medical Research magazine cover. (Courtesy of Sophie Bourton)
Action Medical Research was launching a campaign to fundraise for research into a new cure for PFIC3. They needed a child to be the face of the campaign and family members to share their experience. The charity wanted us. Did we want to be involved?
The charity representative explained that despite Birmingham being one of only a few pediatric liver specialist units in the U.K., Eva was one of only two children with the disease under the hospital’s care.
We faced a decision: to decline the request and keep Eva’s experience and image private, or accept and contribute to finding a cure for this horrible disease. With a disease as rare as PFIC3, we felt that if we didn’t step up and advocate for a cure, there might not be another family that would.
We agreed to be involved. I hope that when she grows up, Eva can understand why we made the decision and why we continue to advocate for her.
Gene therapy: Our hope for a cure
I’ve written that liver transplant is currently the only possible cure for those with PFIC3, but it’s invasive and high risk.
Action Medical Research is raising funds for gene therapy research, as it can treat and potentially cure genetic diseases like Eva’s. PFIC3 is caused by a mutation in the ABCB4 gene, which is responsible for liver function. The proposed gene therapy uses a virus to deliver a healthy copy of the ABCB4 gene into the liver, allowing it to function normally.
Gene therapy for several diseases is already available. Its development for PFIC3, however, is still at the laboratory research stage, which will run until at least March.
If successful, gene therapy will progress to clinical trials and through various rounds of licensing. PFIC3 gene therapy is years away from potentially being available through the National Health Service in Britain. We desperately hope it becomes available before Eva’s liver deteriorates to the point of requiring a transplant.
As Eva’s disease progresses, we’ll likely face more difficult decisions. Do we enroll her in a gene therapy clinical trial and expose her to its potential risks?
For now, I’m trying to stay focused on the present and what I can do to help Eva and children like her. We’ve done a series of interviews and written pieces for Action Medical Research magazine, and Eva has made a very cute cover girl, although I’m biased.
In a few weeks time, Action Medical Research will visit our home to make a short film about our family. I hope it inspires people to support this worthy cause, and most importantly, I hope it helps children and families with PFIC3.
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