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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