Alberta's Story

I am an african parent of a 21-month child with CAIS. As with many other cultures, communicating with members of my family about this condition is almost like a taboo. My mother for instance is a very nice person but ignorance still claims the best part of her. I can remember once we were watching television and there was a program about a woman without a uterus, her exact words were 'she must be of devilish origin'. Currently, she looks after my AIS girl and she loves her very much. On occasions she's asked, what's this 'bump' on her vagina, my reply 'don't worry, she's just the way she is. Should I tell her that her grandchild is not of devilish origin.

Prior to the birth of my child, I had never heard of this condition. In fact an amniocentesis showed an XY chromosome and since my first born was normal and I had never heard of this condition, as is usual with pregnant women, I told everyone the news about my expectant 'boy'. At birth I had a girl with totally unambiguous female genitalia. With my ignorance, I wrote to the hospital complaining about my disappointment at their misdiagnosis. The initial response from my child's paedriatician was 'sorry about the misdiagnosis, if it is, but I will suggest further checks, there could be underlying reasons'. Further tests confirmed my child has AIS.

Since no member of my maternal family has ever been childless, I would like to find out if a mutation has taken place either in my child's genetic make up or in mine. Is my four year old girl, normal? It will be good to know these things so that I start preparing myself for the future.

Alberta