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.
