To test or not to test for PFIC3? Our families face the question.
With 2 carriers in my marriage, there's the possibility that more are affected
The ripples of progressive familial intrahepatic cholestasis (PFIC) continue to spread throughout our family, as branches of the family tree are tested to see if they are carriers of the disease.
PFIC is an autosomal recessive condition, so carriers with type 3 won’t suffer from the disease unless they inherit a mutated copy of the ABCB4 gene from both their mother and father. I touched on my experience of being a symptomatic carrier, but so far only my great-grandma and I have been designated that way. The other identified PFIC carriers in both my family and my husband’s have been largely unaffected.
Deciding whether to get tested
It’s been interesting to see how our families have dealt with the news that there might be carriers among them. Their reactions seem to be a mix of wanting to know, not wanting to know, and being adamant that they couldn’t possibly be. My default has always been “better the devil you know,” but as my husband rightly reminds me, we’re all different. We’ve also seen the added complication of estrangements and strained relationships, which has led to some difficult conversations.
Our daughter Eva in her Mr Strong pajamas. (Photo by Sophie Bourton)
Our family is spread geographically across England. That means that different branches of our family are under different trusts within the National Health Service. Each had a different genetic counselor guide them through the testing process and what it means to be a PFIC carrier.
The advice we’ve received has been varied, with my grandparents originally told they didn’t need to be tested because of their age. They’ve since decided to get tested to determine which of them is a carrier and who within our wider family could also be carriers.
The main purpose of testing is to prevent another child from having PFIC. While the chance of two carriers having a baby is low, it happens, as we know from our daughter Eva’s diagnosis. If we can prevent another child from suffering, then we absolutely will do that!
For now we’re waiting for the test results to come back, and I hope that I can support each family member who is a carrier. This column has proved to be a useful place to signpost them.
Although PFIC can feel like a family curse, I often think how lucky we are that we know that it exists and that we can take steps to avoid having any more children with the disease. Although I wish we could’ve stopped Eva from having it, too, her diagnosis at a reasonably young age and the generic liver medication ursodeoxycholic acid have bought her time with her native liver. How lucky she is to still have it at nearly 4 and a half! Our strong girl.
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