In one year of writing about PFIC, I’ve been keeping secrets
Why we wanted more information about some test results that seemed dire
It’s been over a year since I started writing this column about my family’s experience with progressive familial intrahepatic cholestasis (PFIC), and it’s been cathartic. I hope reading the column has helped other families facing the uncertainties and dilemmas of caring for a child with not just liver disease, but wider genetic diseases, too.
Through the column, I’ve met some amazing people who’ve taught me so much about liver disease and advocacy, as well as what it means to care for a child with PFIC and to be a carrier of the disease.
But amid this period, I’ve also shouldered some difficult secrets.
One year ago
Eva Bourton enjoys the aquarium in between hospital tests. (Photo by Sophie Bourton)
In the year since I started writing the column, I’ve felt quite anxious about Eva, my daughter who has the disease. She’s faced significant fatigue and illness-related red herrings, such that her test results have been a bit of a roller coaster. I’ve struggled at times with knowing how much to share, what to withhold for the sake of Eva’s privacy, and how much to shield our loved ones from concerning test results.
This time last year we felt that Eva’s liver disease was progressing, taking her closer and closer to significant ill health. Her energy levels were low, she was struggling at nursery, and had started napping again. She was more frequently grumpy — but who isn’t when they’re ill?
I wrote about her fibroscan test, which measures inflammation in the liver, during her annual trip to see a specialist. What I avoided writing about, for fear of upsetting family and friends, was that her results indicated end-stage liver disease.
Eva had the fibroscan after we saw the doctor, so we didn’t have the chance to discuss the results with others. The nurse administering the test told us the result (25 kilopascal, or kPa, indicating established cirrhosis), and I let Doctor Google fill in the gaps.
The gaps were bleak ones. I think I’d rather have left them empty! I’m grateful for my close friend and fellow medical geek, Gabby Farrell, for being my rock during this anxious time.
Light at the end of the tunnel?
But as I mentioned in my last column, over the past few months Eva has had tummy pain. We took her for an ultrasound at our small, local hospital in Hereford, England. A few weeks after the column was published, we got the results, which suggested she’d developed fatty liver disease. Perhaps that was the cause of Eva’s pain; it’d make sense given the fibroscan results.
I wasn’t sure what to expect when we made Eva’s annual trip to Birmingham Children’s Hospital. I’m always anxious in the run-up to the trip, but I don’t always realize it until it bubbles out of me in bad moods or obsessive gardening. We did our usual routine of tests mixed in with a family visit to an attraction, this time an aquarium.
When we arrived at the hospital, I was pleased to see Girish Gupte, Eva’s pediatric hepatologist, rather than a member of his team. He knows Eva and he knows PFIC, which feels instantly reassuring. He organized an ultrasound with the Birmingham hospital’s pediatric sonographer and more advanced scanning equipment.
We were so relieved that the higher resolution ultrasound painted a more positive picture than the tests performed in Hereford. And when I asked Gupte if he was concerned about the fibroscan results, he said they and the suggestion of fatty liver disease were probably wrong — a possibility since she was so young and small when the test was done.
So after a year of ups and downs, the picture we now have of Eva’s health is much more positive than the one we had 12 months ago. I know that’s not the norm with a progressive disease, and I know how unbelievably lucky we are. Leaving the Birmingham appointment, I felt like I’d been holding my breath and could finally breathe deeply.
Most importantly, I’m hoping and praying that in the race between the progression of Eva’s liver disease and the development of a cure for PFIC3, we might win. If Eva’s liver stays healthy enough and she meets the clinical trial criteria, Gupte will put her name forward for a gene therapy trial — something we hope and pray would be curative!
Note: Liver Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Liver Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to liver disease.
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