PFIC Progressive Familial Intrahepatic Cholestasis-Resource for Pediatric Liver Disease

Charlotte, Heather and Christopher
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Charlotte, Heather and Christopher: all good things come in threes….

 

By Barbara and Freek, their American/Dutch parents

 

Charlotte, Heather and Christopher were born within minutes on 18 February 2000.

After some 3 months, both girls were diagnosed with ‘failure to thrive’ and various signs of general discomfort. Four weeks in hospital followed, and another four weeks when they were 6 months old.

To make a long story short, after many tests to rule out more common diseases the doctors suspected PFIC. By that time they were three and a half.

Via web publications we discovered Richard Thomson and Alex Knisley, who were so kind to rapidly diagnose type 2 via DNA testing: BSEP. Thank you, guys!

More or less on their 4th birthday they received a PEBD at the University Hospital in Groningen. Pediatric liver specialist Dr. Bijleveld, a well known expert in the international ‘PFIC-world’ has just recently retired from the team. We are now in the skilled hands of the colleagues he helped train.

 

Unfortunately the girls still have some daily (nightly!) itching, but their current quality of life is very good in general. Even their mom and dad manage to get a good nights’ sleep every now and then……

 

We are quite aware (and very thankful!) that we live in the Netherlands, with a very co-operative based and social-liberal kind of health care system. Thank God that we do not have to worry about the costs of operations, medications, food supplements, possible transplants, etc. We have been onto ‘Heparon-junior’, containing a.o. medium-chain amino acids, since they were one year old. That’s a lot of cans of this expensive formula which was specially developed for liver patients.

 

Recently we had a wonderful meeting at our hospital with doctors, nurses and some 10 other families with kids with various chronic liver diseases. Our girls were very exited to finally meet other boys and girls who were also carrying a ‘bag’. With some of these families, we now have an informal and very pleasant contact by phone, e-mail and through personal visits. It surely is an advantage to live in such a small country…..

 

In the meantime, healthy brother Christopher is (at least most of the time) a loving brother and a good companion to his sisters.

 

We deliberately choose to present ourselves to you all with a picture of our whole family.

We are in it together.

 

Freek, Heather, Charlotte, Christopher and Barbara.

 

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