the IA Forum
Two recent postings on the 'IA' Forum
seemed to put a lot of what I feel and in a way that suits
this website. The Guest concerned and John Smail gave permission
for them to to be copied below.
a Guest - 'What should we be told' posting 27/01/05
FAP/Gardner's has been in
my family for five generations now, we think it started with
my great grandfather who died at 32. The cause of death wasn't
FAP but then again he died in 1923 before this illness was
known about. But since three of his children inherited the
illness and his wife lived till nearly ninety I think I can
safely pin it on him.
I can tell you that each member
of my family has had very different symptoms of the disease.
The age of onset has been very varied from teens up into the
thirties. Each person who has inherited the gene seems to
have their own personal symptoms, even siblings. Its as though
when you inherit the gene you modify the mutation at conception
into your own individual version of the disease.
Some members have had polyps
in the colon/rectum, some have cysts, some have duodenal adenomas,
some have CHRPES, some have desmoids, some have osteomas etc.
What do you look out for?
You are like any other patient and you should go with anything
that is out of the ordinary for you. This illness appears
to affect many parts of the body if you have Gardener's whereas
FAP mainly affects the gut.
Screening tends to be regular
sigmoidoscopies and endoscopies, and if problems arise CT
scans or MRI's.
You can't anticipate this
illness, I wish I could give you a neat set of rules to follow
but the illness creates its own rules we just have to live
the Forum - January 7th 2005
the question of how much should we be told, I am not sure.
If you look at some of the case histories of people with FAP/Gardners
you find on some websites, most of us probably wouldn't go
through the first surgery. But we must remember that most
of us who go searching for information do so when problems
arise, not when everything is in working order and we are
sailing along nicely. Hence it is very rare to hit a website
that says "I have FAP/Gardners had the op and never felt
better wished I'd done it years ago"
think one of the most important things that should be told
to a person when newly diagnosed is that they may have inherited
the FAP/Gardners gene but each member of the family may get
different symptoms of the illness depending on where the mutation
has occurred. Therefore if a family member has a desmoid or
chrpes or cysts or duodenal polyps etc. just because you have
the same illness it is not guaranteed that you will get the
same symptoms or severity of illness.