Denise's Story

[Received Dec 2001]

Denise wrote a personal profile in response to a request from a well-known organisation. They wanted a case study that they could display on their genetics web site. They suggested the following topic areas:

Introduction - Picture of person if appropriate (ie. if they don't mind!), some family history, small bit about the condition (perhaps linking through to our conditions  database)

Diagnosis - How was the diagnosis made? How did you feel when the diagnosis was made?

Effect/Impact - How has it affected your life? Can you describe what it's like to live with the condition? Are there any changes you have had to make subsequently?

Treatment - Describe what the treatment is

Support - What kind of support have you had from family, friends and healthprofessionals? Is there any other type of support you've used, ie. support groups,  message boards etc? Have you any words of wisdom for fellow sufferers?

Introduction

My name is Denise and I’m a middle-aged woman from a happy family background with a loving partner and friends, and a professional job. However for much of my life I’ve had to accept that I’m ‘different’ from almost everyone else. I have the complete form of Androgen Insensitivity Syndrome (AIS).

The Diagnosis

Aged sixteen, I’d gone through a late puberty but there was no sign of menstrual periods. A specialist diagnosed Testicular Feminisation Syndrome – the now obsolete name for AIS. He went on to say that I wouldn’t be able to have children because I was born without a uterus and my ovaries were not fully formed. Furthermore I had male chromosomes – despite being obviously female on the outside – and my vagina was shorter than average. It was implied that it would be wise not to talk about it, that it was so rare that I was unlikely to meet anyone else affected, but otherwise I could lead a normal life. No treatment was necessary other than removal of the ‘twisted ovaries’ and substitution of hormones via HRT.

The Effect

Following this ten-minute consultation, I lived the next 30 years without talking to another soul about it (not that I uttered a word during the consultation, I was in shock). I was very conscious of the unspoken shame that was imposed on me for having this condition and I had no choice but to come to terms with it all by myself. My loving parents – bless them – had been told to emphasise the positive and, anyway, looking at me they saw a normal girl but with an infertility problem. All General Practitioners I came across became eerily silent if I attempted to talk about it (I was probably incoherent with tears anyway). I now realise that they’d probably never heard of the condition named in my medical record, and didn’t want to show their ignorance. I abandoned all contact with the medical profession.

The Cause

AIS is a disorder of foetal development of the reproductive system. A child is conceived with male (XY) chromosomes; embryonic testes develop inside the body and start to produce androgens (e.g. testosterone). But in AIS these male hormones cannot complete the male genital development due to a rare insensitivity of the foetal body tissues to androgens. So external genital development continues along female lines (the ‘backup’ route) but the development of female internal organs has already been suppressed.

The Treatment

For me, AIS has primarily been a psychological condition – much of the mental trauma being imposed by the shame and secrecy of those in authority (doctors, parents). Apparently it was unusual that I was told about the genetic aspects of the condition on diagnosis; but to leave me alone with this knowledge at the age of sixteen was cruel. (I still advocate that doctors should tell patients the truth, but with appropriate support. Those told half-truths find out later anyway and feel a deep sense of betrayal.) I felt apart from the rest of the human race. I was clearly female but avoided getting too close to female friends in case the subjects of periods and pregnancy came up. I couldn't fully relate to boyfriends because of the burden of secrecy. The medical profession and my family were a strong wall of silence on the subject. Clearly, psychological counselling should be a prime treatment for those diagnosed with AIS and their families, alongside the changing attitude of medical professionals in this area who are becoming more open to discussing issues on an adult-to-adult basis.

There was no support in ensuring that my shorter than average vagina was stretched by using dilators and I consequently suffered agonies of sexual inadequacy, until a very patient boyfriend plus a tube of oestrogen cream eased the problem. For some XY women born with a minimal – or no – vagina, this area of treatment is critical; surgery can be successful but dilation is now recommended as a first step.

Only recently did I learn that my ‘ovaries’ were actually internal testes, which [if they hadn't been removed] could have continued to generate the natural oestrogen that my body responds to (converted in the body from the androgens that I am incapable of responding to). Also natural oestrogen is effective in counteracting osteoporosis, a known risk for those with AIS, although HRT substitutes for this. The threat of cancer – the reason given for gonad removal – is apparently very small, so I now consider this to have been unnecessary surgery, without full consent, carried out primarily to retrieve material for research. A feeling of being exploited – whether via unnecessary surgery, medical photography or the gaze of scores of medical students – is a  common feeling of those with rare conditions.

The Support

To be set apart and told you are so rare that you are unlikely ever to meet anyone similar, leads you to question your identity as a human being – you might as well be told you are an alien. However in the last five years, having met hundreds of wonderful women with AIS and similar conditions via the Androgen Insensitivity Support Group (www.medhelp.org/www/ais), I've been able to reclaim my identity with the help of those who have gone through similar hardships to myself. At last, I know I do have a place in this world.