Although I was diagnosed with Androgen Insensitivity Syndrome (AIS) shortly after I was born, it took over 23 years until I was finally told the truth about my diagnosis.
Prior to this, my experience of doctors had not been good. When I was 14, my childhood doctor gave me a devastating and fictional story of how my ovaries were pre-cancerous and needed to be removed — and wrapped this up in a cloak of secrecy and the advice that I never needed to tell anyone. I was offered no psychological support and was sent home with a prescription for HRT and a deep feeling of shame about my body.
I moved to Brighton in the early 90s, to attend university, and I was referred to a specialist in London. Although I enjoyed university and was mostly able to keep the shame I felt hidden away, it always seemed to surface on the train up to London for my hospital appointments. I was usually quietly sobbing by the time I reached Victoria and I would continue to cry throughout my appointment. I would again be given inaccurate information and my distress made it difficult to even express how confused I felt.
After finishing university, I continued living with friends in Brighton and superficially I likely appeared to have a great life. However, the days of despair when I just wanted to take to my bed and cry were becoming more frequent. During this time, I registered with a new GP practice. My GP was kind and thoughtful and really listened to my worries and acknowledged how confused I felt.
She arranged for me to see a psychologist and after a few months he recommended that it might be helpful for me to look at my medical notes — and that he would arrange this with my GP.
Before seeing my GP, I mentioned to my parents that I was going to look through my medical notes. They asked me for the name of my GP, but I did not think anything of this. I was not expecting to find out anything exceptional, possibly just a little clarity about what had happened to me.
FINALLY, THE TRUTH
In her large sunny room, my GP sat alongside me with my medical notes in front of her. She started by explaining how babies develop in the womb. For the first 2 months, the embryo has the potential to develop as either male or female. If you have XY chromosomes, this leads to the development of testes, the production of testosterone, and the development of the typical male reproductive system. She explained that I had XY chromosomes and that as an embryo I had developed testes. However, as my body is completely insensitive to androgens, I was unable to respond to the testosterone I produced and my body developed externally along the female route. At birth I would have been indistinguishable from any other girl, although without a uterus or top part of the vagina and internal testes.
‘Wow’, I thought, ‘this makes sense and there is a name. Androgen Insensitivity Syndrome’
I did not feel upset or traumatised by this information — it just made sense and it was the first piece of the puzzle that would lead to me putting myself back together as a whole person.
‘Wait till I tell my parents’, I stated. She looked at me kindly and replied, ‘they already know — they have been calling here all day and begging me not to tell, they are desperate to talk to you.’
This was the information that was really shocking to me. Everyone had known. My medical notes were littered with the phrases ‘she does not know the truth’, ‘she should never know the truth’.
My GP explained that my parents had been told to keep my AIS diagnosis and XY chromosomes a secret. They were advised that this information would be too traumatic for me to hear. They had tried to do what they had thought was best, what the doctors had all told them was in my best interests.
I could see my GP was troubled. She explained that she hoped she had done the right thing by telling me the truth. The psychologist I had seen had also confirmed that although I was confused and distressed, I was mentally resilient and deserved the truth about my body. My GP gave me the telephone number of a support group for people with AIS and told me to come back and see her again soon.
I left the surgery in shock, not at this new information, but about the years of secrecy and the lies I had been told. My pre-cancerous ovaries were not ovaries at all and were not pre-cancerous. The many doctors I had seen, had all known and had continued to lie about my body, even when I had begged for more information.
I arranged to meet a friend in a pub on the way home. I ordered a double whisky to try and absorb the shock — and I sat down at a table to wait for my friend. Before she came, someone approached me and gave me a small bunch of flowers. I have no memory of who they were or what they looked like, although I remember them telling me that they had never seen anyone look so shocked and they just wanted to do something to help. I think the pain must have been clearly etched on my face, almost like the years of shame and secrecy were finally becoming unbound and making themselves seen. The whisky helped, and after a short time my friend joined me and I was able to tell her what I had been told — and for the first time this was the real truth.
Throughout this time, my parents had been calling my home, desperate to talk to me and explain. I spoke to them briefly and we arranged to meet the next day.
Everything was still too raw for me to be able to understand what they had also been through. It would take some years before I could put myself in their position and realise that even though they had made mistakes, they had always wanted the best for me.
I didn’t go back to see my GP, and the piece of paper with the number for the AIS support group remained folded up in my address book. It was only a year later that I was finally ready to dial those numbers and make contact.
THE POWER OF A GOOD GP
I still think about my GP and how brave she was to question the decision that I should never know the truth — and how she was able to really consider what was in my best interests. I often hear people saying that GPs aren’t experts, which is true, they are not experts in specific medical conditions. However, they are experts in their patients — and often understand their patients in a way that no other speciality can achieve.
It was this GP that inspired me to apply to medical school as a mature student — and although I later specialised in a different area of medicine, it was this GP that made me see the difference a good doctor could make to someone’s life.
I am now a trustee for https://www.dsdfamilies.org, an information and support charity for families facing these complex issues.
Parents often need to balance respecting their child’s right to privacy alongside supporting them to grow up feeling positive about their bodies. GPs can play a vital role in helping to normalise these conditions. They can become part of a circle of trust, allowing children the opportunity to talk openly and understand that their different sex development does not have to be a secret.
- © British Journal of General Practice 2020
