My Mutant is Hiding

So just as a refresher for those of you new to my blog.  I have FAP, a genetic defect that causes colon cancer and can be passed on to my children.  I decided to get retested genetically last month in hopes that the new tests would be able to find a genetic defect in me.  If the tests did find one, then I could forgo putting my 12 year old daughter through a colonoscopy this year at the young age of 12.

Well, the results are in… No detectable mutation.  Apparantly I’m a very unique mutant.  I either have a Mosaic mutation, one which formed during growth in my mothers womb and isn’t present in my entire body or I have a yet to be detected mutation which science will hopefully find in the coming years since genetics is booming and on a huge growth curve.

So the plan?  Set up an appointment to see the best pediatric GI in the area for my daughter and decide if we should scope now or not.  Then possibly get retested in a year or so as the tests improve.

So not what I had hoped for but still could be a good side.  I didn’t test positive for the known APC dominate defect so I may have a recessive defect or a mosaic which is less likely to be passed on.

If we decide to scope this year, hopefully things will be easy for my daughter.  Luckily we have a CHOC hospital which is children only and has some amazing doctors out here where I live.