From 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.

By 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 amongst them.

On 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"

I 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.