A MOTHER'S STORY

This is the story of our beautiful daughter who, after a healthy childhood, was diagnosed with 46XY complete gonadal dysgenesis when she was fifteen-and-a-half years old. Writing this down has been cathartic for me and hopefully will prove interesting to the reader, especially those involved in the medical profession.

In 1995, during a school holiday break my daughter underwent orthodontic treatment but appeared very quiet a couple of days later and eventually rang me up at work and said that she was in such a lot of pain would I book her in to see our GP. On talking to her further, and to my surprise, it was her stomach that was hurting and not her mouth!

That night my daughter was seen by a doctor at our local family practice and told she was constipated and prescribed laxatives. The next day she was still in a lot of pain so I stayed off work and kept an eye on her. In the middle of the night it became obvious that she was suffering from a lot more than constipation so we took her up to the local hospital where she was admitted. The young resident on duty said to my daughter that her arms felt rough like a man's. The following afternoon, after an ultrasound, the medical superintendent looked at the report and told me he hadn't seen a case like this before and didn't have a clue what was wrong with my daughter. He also said that she was too tall. Too tall? She came from a tall, slim family and I had had no need before to question her height. I am 175cms and my daughter was approximately 172cms.

Later that afternoon she was transferred to a teaching hospital in Brisbane, looking very yellow, but slightly more relaxed because the nurse had finally been able to give her something for the pain. This was our introduction to the hospital system, the insensitivity of the medical profession, and our daughter's two-and-a-half year ordeal.

Our daughter was seen early in the evening at the teaching hospital by a gynaecology registrar who, after examining her internally, spent some time looking at her X-rays, reports, etc and eventually told us that she most likely had an ovarian cyst and booked her in to theatre for the following morning.

A consultant gynaecologist visited us just before my daughter's operation and said everything would be fine and wondered what my husband and I were worrying about saying, "It's like shelling peas!" The nurses were jolly and supportive but I thought it strange when they disappeared from sight after my daughter had been in theatre for more than two hours. Where was she and where had all the nurses disappeared to? Half an hour later my husband and I were ushered into a tiny office and the consultant gynaecologist introduced us to her colleague, a gynaecologist oncologist. And so our nightmare began.

We learnt that during the operation our daughter was found to be bleeding internally. Her intestines had adhered to other organs and more surgeons were summoned into theatre, including a general surgeon, gynaecologist oncologist and pathologist. One "ovary" had been removed and they said they thought she had a type of cancer that could be cured quickly with a short cycle of chemotherapy. I mentioned to the specialists that ten months prior to this our daughter had complained of severe stomach pains whilst at school. My husband had taken her to a GP near to his work and the doctor said she had been doing too much swimming! His consultation took all of three minutes. When her pains continued my husband took her to our local hospital where she was seen by a senior resident who said it was very odd for a fourteen year old not to be menstruating, but said nothing about signs of her being hirsute. She was x-rayed but that apparently revealed nothing. The doctor diagnosed constipation and told my daughter to come back if it didn't get better. She did get better in twenty-four hours! When the specialists heard my story I saw them glance at one another but they both dismissed this previous trip to the hospital as insignificant.

The next day numerous blood tests were done. Results started coming back in and we were informed that our daughter had an ovarian germ cell tumour and they wanted her to have a CT scan as soon as possible. After the CT scan we were told the tumour had spread to her lungs and chemotherapy had to be commenced immediately. By that night she had had a portacath inserted, ready for what they said would be four or five months of very heavy chemotherapy, remaining in hospital for much of the time.

An oncology registrar said to me in passing that they were also carrying out a chromosome test and a clinical nurse mentioned that sex change operations were carried out on the ward. My imagination went into overdrive as I tried to remember things my daughter had said to me, things that had seemed strange at the time, but I had dismissed because doctors we had seen previously had not mentioned anything unusual.

My father, a doctor living in the UK, sent me an article from the Lancet which stated that the prognosis for patients with germ cell tumours was extremely good these days. However, at the end of the article it mentioned that a percentage of intersex patients suffer from this type of tumour. From that moment on I was desperate. I needed to know exactly what was wrong with my daughter, but I didn't really want to hear it. What was I to do? The first thing I did do was ask a nurse to mark on my daughter's file that she wasn't to be seen by medical students and my wishes were always respected. I then spoke to the oncology registrar and asked if we were likely to hear any more bad news. Was there anything else they wanted to tell us? She said we wouldn't hear any more bad news; there was nothing more to tell. I felt relieved but I wasn't convinced.

I started looking up medical books and dictionaries for intersex conditions, but unfortunately at that time I wasn't able to access the internet. In the meantime my daughter was responding well to chemotherapy and her HCG level (tumour marker) started to drop. Funnily enough the more chemotherapy she received the better she began to look, but I noticed that her shoulders were getting wider and her hands bigger (could this have been my imagination?) and it dawned on me that the doctors hadn't meant that she was too tall, but that her limbs were too long.

My anxiety grew by the minute and I was at a loss as to what to do or who to turn to. I couldn't talk to my husband about my suspicions because he was having difficulty coming to terms with the fact that our daughter had cancer and I didn't want to burden him with any more problems. I just knew that I had to keep my daughter's spirits high and keep my fears to myself. But by this time I could hardly eat or sleep and lost nearly two stone in twelve weeks which I could ill afford.

I tried to talk to the oncology registrar and consultant on a number of occasions and repeatedly asked the social worker to get someone to talk to me, but I was fobbed off every time.

Eventually I met up with a nursing friend of mine and started to tell her a few of my concerns. She told me that her sister had performed my daughter's chromosome test and it was discovered that she had XY chromosomes! She went on to say that this information had leaked outside the hospital and was the talk of Brisbane gynaecologists. I was stunned. My worst fears had just been confirmed by someone who could not explain any more to me and said I should talk to my daughter's doctors as soon as possible. (I was later told by the oncologist that nothing remains confidential in a hospital!)

After about three more weeks of trying to talk to someone the oncologist rang me up at home and told me that my daughter had gonadal dysgenesis (without any explanation as to what this was) and seemed surprised that the gynaecologist hadn't told me that they had found my daughter to be deformed when they operated on her! I was so distressed by this news that I couldn't continue our conversation and put the phone down. A couple of days later I threatened to stop my daughter's chemotherapy treatments and the oncologist had no alternative but to agree to my request to speak to an endocrinologist. Looking back I can't believe what I did, but I was absolutely desperate by this time and feeling very suicidal.

I was able to have a very brief telephone conversation with the hospital endocrinologist a day or so later (the oncologist sat in on the conversation), because he was on holiday at the time. The oncologist thought this conversation was sufficient for my needs but, if I wished, I could talk to the endocrinologist when he returned from leave!

I eventually spoke face to face with him three weeks later and during our half hour conversation I began to feel better about the situation and felt a load lifting from me as he explained as best he could about 46XY complete gonadal dysgenesis. At the end of our conversation he said that I should go and see a psychiatrist because I was suffering from clinical depression. However, I was more than grateful for the half hour he spent with me after more than three months of being kept in the dark.

I know now that if I had never requested to speak to an endocrinologist I would never have seen one at all during the course of my daughter's treatment.

Medical literature on 46XY complete gonadal dysgenesis was supplied to me via a friend of the endocrinologist, a paediatrician from another Brisbane teaching hospital, which made me realise that the specialist I was dealing with was not an expert in intersex conditions. However, after our brief talk and looking at the literature, I began to slowly recover from a darkness which I had hidden expertly from my daughter, family and friends and was more able to concentrate on helping my daughter through chemotherapy and radiation treatments, which ultimately we hoped were going to save her life.

(In 2001 I found out that there is a paediatric endocrinologist specialising in intersex conditions at the children's section of the hospital we were with! It has been suggested to me that possibly because of professional jealousy he was not consulted about my daughter's case.)

Meanwhile, I tried to read everything I could about GD and ovarian germ cell cancer - I was hungry for information of any kind and eventually felt that I should seek out a specialist in genetics because half an hour's talk and a couple of sheets of notes were now not enough for me.

I eventually met with a geneticist who was more concerned as to who had given me the original information sheets and where the endocrinologist had accessed them from. He told me that he saw worse cases than my daughter's every day. When I told the social worker that I had sought out more information from a geneticist she couldn't understand why - wasn't half an hour with the hospital endocrinologist enough?

After six months of heavy chemotherapy my daughter's HCG began to rise again, which was not a good sign. Eight months after commencement of treatment the gynaecologists and oncologist decided to take her other "ovary" out in case this was the problem and decided now was a good time to tell my daughter she had GD. (Surely this second "ovary" should have been removed shortly after the first?) So, the oncologist, endocrinologist, social worker, my daughter and I met during a twenty-minute outpatient's appointment. I asked for the social worker to be present so that she could support my daughter and intervene if the specialists handled it badly, but as it turned out my daughter would rather not have had the social worker present and couldn't talk to her for quite a while afterwards because of embarrassment.

The oncologist explained the need to take my daughter's other "ovary" out and the endocrinologist explained GD to her. His final words to her were that Olympic athletes undergo chromosome tests and as she wasn't interested in becoming an Olympian she didn't have to worry about anyone finding out. My poor daughter hardly uttered a word during all this and my heart went out to her. But, at the time, I was grateful to anyone who took the trouble to talk to us. I now know that this was totally inadequate.

After the appointment I drove my daughter home but she did not utter a word on the trip back, however shortly after arriving home she sat on the bench in the kitchen and I knew this was a signal that my beautiful teenager wanted to talk. So, we talked and talked non-stop for the next couple of hours and I did my utmost to convince her that she was absolutely female, indeed she would even be able to carry a baby later on (from a donor egg). And I told her that I loved her to bits. We ended up laughing and hugging one another and I am sure she was relieved because I believe she had known there was something else wrong with her besides germ cell cancer, but she couldn't talk about it. She swore me to secrecy and asked me never to tell anyone about her intersex condition, even her father.

After her second streak ovary was removed (and oestrogen therapy finally commenced), the HCG level remained high and the cancer was found to have spread to her brain. Chemo was inserted into her spine and radiation commenced, which worked for a while. The HCG level continued to rise and the decision was made to give her a stem cell transplant, which meant remaining in hospital for a month in isolation whilst she underwent treatment.

Before the stem cell transplant could commence she had to have a Hickman's line inserted, which was attempted by a haematology registrar. This was not successful so she went down to theatre in the evening to have it inserted by a general surgeon. That night I slept with her in the ward because she had been very distressed on returning from theatre. During the night a nurse tested the Hickman's line and my daughter nearly hit the ceiling in pain and wouldn't let anyone near her again. A few hours later she was visited by the surgical registrar who announced, in a voice loud enough for other patients to hear, that my daughter's procedure had not been a success because she was physiologically different from other people and that is why they had encountered difficulties. I later learnt that someone (quite possibly this registrar?) had not tested the Hickman's line before my daughter left theatre and instead of the tube going around in a loop it had gone through the artery. No wonder my daughter had felt so ill and suffered a tremendous amount of pain. A third attempt by a vascular surgeon was successful.

After one month's gruelling treatment my daughter expected her HCG level to fall to zero and desperately hoped to go into remission, and naturally she was nervous about meeting the hospital's haematology consultant at an outpatient's appointment. This specialist and some of his team had been very kind to our daughter and I knew if the marker level wasn't what we expected he would be the best one to give us the bad news.

Unfortunately the specialist was held up with a BBC TV film crew so his assistant stepped in and took over his appointments. Our daughter's HCG level was around the eight mark which she said was a good result! We must have looked aghast. This was not the news we had wanted to hear and it was a terrible outcome! She quickly said that she was not used to dealing with patients with germ cell tumours and said we should go back and talk to our GP. My daughter, husband and I were speechless by this time and showing signs of distress, so she decided to phone the oncologist and made an appointment for us to see him in another week's time. How we all managed to get through the rest of that day I'll never know, but we did, and we found the strength from somewhere to carry on. We willed our daughter to keep going, continue with her studies, socialise with her friends and above all not give up.

The news wasn't to get any better and a little later on the tumour returned to her brain. I travelled down to Sydney with my daughter so that she could undergo stereotactic treatment, which was fairly gruelling and resulted in four permanent "dent" marks on her head. However, she was seen by one of the nicest specialists we were to encounter during her illness and I was extremely thankful for the kindness this man bestowed upon my daughter. The treatment was a success and the tumour did not return to her brain.

Sadly, the tumour could never be eradicated from her lungs and after a two-and-a-half year battle with cancer our beautiful and brave daughter passed away. It was and still is a tragic loss.

A few hours after her death we had a phone call from a doctor at the hospital asking if we would donate our daughter's eyes. We didn't think cancer patients could donate organs but he said it was possible with the type of cancer our daughter had been suffering from and hadn't the hospital talked to us about donating her eyes before she died. No, they hadn't! We felt that our daughter had suffered quite enough and we wanted her left in peace. We refused permission and to this day we don't regret that decision.

It was only after watching a television program some time during 2000, and two years after losing our daughter, that I found out about the AIS Support Group in Australia and contacted Tony Briffa. If only I had known about this group at the end of 1995 I am sure it would have made a big difference to my daughter and me.

I feel the medical profession has a very long way to go before attitudes become more enlightened but with Tony and the AISSG, including Dr Garry Warne, surely progress will be made. I hope my story will assist in some way and show the medical profession how not to treat intersex patients and their families!

March 2002

Many thanks to the mother who was so generous in sharing her personal experiences with us. This is truly a touching story which reminds us of the importance of an accurate diagnosis, having clinicians that are open and supportive, and the need for support groups and the medical community to work together.

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