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Glossary

Obtaining/Facing Diagnosis

[last updated 12 Dec 2006]

This page considers the practicalities of obtaining a diagnosis and, in the case of AIS, obtaining carrier testing for XX female relatives, and the provides some pointers to material that may help in dealing with the emotional impact of an AIS-like diagnosis.

Index to this Page

Obtaining a Diagnosis

Introduction

Diagnosis of AIS is usually made at one of these life stages:

The first test to be carried out in a suspected case will probably be one which examines whether XY sex chromosomes are present. These are often detected either via a chromatin test using a buccal (mouth) smear (a rough indication that looks for a particular colour change in cells under a microscope) or via a blood test (a karyotype test that examines the shape of the actual chromosomes). At a UK support group meeting in 2002, AIS genetic expert Prof. Ieuan Hughes mentioned a new smear test called Fluoro In Situ Hybridisation (FISH) in which the X chromosome shows up as green and the Y as red.

Patients and their parents are often traumatized enough by the existence of XY chromosomes that they settle for a diagnosis of 'AIS' and do not pursue tests to differentiate different similar conditions. Nevertheless, it is quite useful to investigate further, particularly in the case of suspected Partial AIS (PAIS), which has a presentation similar to several other conditions (see Related Conditions). The following tests may be done.

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Blood Tests

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Urine Tests

Urinary steroids may be measured (not always very useful) but may help with 5-alpha-reductase.

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Imaging

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Examination under Anaesthetic

This may be done if imaging cannot give the whole answer or to plan for surgery. It may occasionally include a laparoscopy  (examination of abdominal contents via telescopic device through small incision).

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Genital Skin Biopsy

Used to be done just for research but now may be done to look for DNA (although this can also be done using blood).

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Gonadal Biopsy

An examination of the testes being removed; in cases of AIS these tissues are supposed to look normal and be functioning (although they do not produce mature sperm cells). In other cases the gonads may present as streaks, as under-developed, or even as ovo-testes. This test is rarely done now unless looking to confirm true hermaphrodite i.e. the presence of an ovo-testis.

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Gonadal Histology

If the gonads are removed they will be sent for histological analysis (to look at the structure at cellular level). This may sometimes help in the diagnosis e.g. in Leydig cell hypoplasia.

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DNA Studies

Usually done on blood. In some conditions, e.g. Complete AIS, the faulty gene can be identified in about two thirds of people with the condition. This means that if identified, other members of the family could be screened to see if they carry it (if they wished to be screened). Very few centres can offer this. The AIS gene is done in Cambridge UK, 17-keto-steroid in Dallas USA and France. Most centres are however happy to send off blood for this test if there is a good chance the result will be useful. They are very expensive and time-consuming 'needle in a haystack' tests. The clinical suspicion has to be very high to make it worthwhile.

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Anti-Mullerian Hormone (AMH)

Also known a Mullerian Inhibitory Factor or MIF. Test not available in the UK but widely used in the United States. It is a good marker for the presence of a testis.

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Familial Analysis

While about a third to a half of cases of AIS occur due to spontaneous mutations, the other cases follow a specific line of inheritance, namely through maternal lines. In cases where a relative with similar condition is known on a non-maternal line, or when there is consanguinity between parents, one may suspect that the girl does not have AIS but another condition with an autosomal inheritance (i.e. inheritance that does not involve either of the sex chromosomes but one of the 46 other chromosomes).

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Prenatal Diagnosis

AIS has been diagnosed as early as 9-12 weeks of intrauterine life by chorionic villus sampling (sampling of tissue from the foetal side of the placenta). By the 16th week it can be detected by ultrasound and amniocentesis (sampling and analysis of amniotic fluid). However, pre-natal diagnosis is seldom indicated unless there is a family history of the condition.

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Tissue-Level Defect

The exact nature of the defect at the tissue level in androgen insensitivity has been the subject of considerable research. Prof. Ieuan Hughes who leads the main UK research group (at Addenbrooke's Hospital, Cambridge, UK) that has done work on the androgen receptor gene told us (mid-1990s) that they had information on some 200 families with the condition. The research group has published a number of papers on various genetic/biochemical aspects of both the complete and incomplete (partial) forms of the condition. A recent paper from these researchers studies the molecular basis of the phenotypic (body appearance) variation in AIS. They put forward evidence that most, if not all, cases of complete AIS can be explained by androgen receptor defects but that the majority of partial or incomplete AIS subjects exhibit no defect in androgen-receptor binding, suggesting that other genetic defects are involved. It is also possible to have the same genetic defect and different genital appearances. CAIS and PAIS may thus be caused by different defects at the genetic/cellular level and are thought not to occur in the same family.

See Overview for information on the AIS grading scale.

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Carrier Detection

See Overview for details of the way in which AIS is inherited in a family.

The support group is in touch with women who have as many as eight affected relatives. A case study of the syndrome in four generations has been reported. However, Griffin and Wilson (Dept. Internal Medicine, The University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235-8857) state that in one third of cases, family history is non-contributory, suggesting new mutations. A recent genetic study of AIS and carriers within one family concludes that the original mutation had occurred, in this case, in the germ line of the maternal great-grandfather of the patient. McPhaul et al have recently published results on the spectrum of mutations in 31 subjects with AIS.

It is possible to detect, by biochemical means, XX females in a family who may be carriers of the faulty gene. Recent work by the Cambridge research group on the partial form of AIS concludes that although PAIS carrier status can be determined in fertile females in a family, the severity of genital abnormalities in affected offspring cannot be reliably predicted.

At one time, when the androgen receptor gene was being actively researched, it was possible to get research labs to carry out carrier testing on behalf of families, alongside their research. However interest in, and hence funding for this research has faded since most of the androgen receptor gene defects have now been discovered. So although a lot of research work has been done in the UK on the genetics of AIS, no routine carrier testing service has resulted from this, as far as we know, although there are various commercial testing laboratories in the US and continental Europe. The number of families requiring this service is, of course, small since AIS is a rare phenomenon but the demand has increased in recent years, and will probably continue to grow, as intersex becomes less of a secret issue within families and society.

Dr. Gerard Conway at the Middlesex Hospital, London (see Recommended Clinicians) had plans to set up a carrier testing service and was discussing this with Prof. Hughes, but funding may be a problem. The gene on the X chromosome that controls the formation of androgen receptors in tissues has 3,000 code letters. So to find a mutation is like looking for a needle in a haystack. The gene has eight 'fragments' and to map all eight fragments costs about £500 just in materials (2003/04). A commercial lab would charge £2,000-£3,000 to do the test. We understand that Prof. Hughes' hospital in Cambridge will now test other female family members for carrier status in their NHS lab, if the research lab there has already identified the mutation in the 'index case', i.e. in the family member who actually has AIS.

There are three types of biochemical test for carrier status:

In the absence of biochemical testing, the following clues to the presence of carrier status in a family can be used:

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Medical Records

We recommend that if discovering your diagnosis later in life you get hold of a copy of your complete hospital medical records. It is best to do this by enlisting the help of a trusted clinician and asking them to get them for you. Although you can apply for them yourself, medical records staff sometimes provide patients with a cut-down version on the assumption that they will not understand all the techie stuff. If you experience trouble in obtaining them, and you are in the UK, the Patients Association can help (see the Links to Other Sites page).

There is no reason for there to be photographs in your medical records. They are only useful for recording events that are changing fast, like skin moles. The black bars often seen across the eyes of patients in medical photographs do not diguise their identity: they merely stop the person from looking back at the viewing clinician. See General Refs at foot of page for articles on the ethics of medical photography by Dreger A. (2000) and Creighton et al (2002).

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Facing a Diagnosis

Introduction

This page cannot provide exhaustive coverage of this topic. It is such a huge area that it is almost impossible to summarize it concisely and it is discussed in many other places in our literature, including other pages of this web site. The question of secrecy vs truth disclosure is frequently discussed in our journal/newsletter (ALIAS) in the form of letters/emails, articles, reports on group meetings, discussions and accounts from group members (see ALIAS Contents List). We also recommend you read the following discussions amongst group members, on truth disclosure and related issues, accessible via our Debates/Discussions page:

Canadian Medical Assoc. Journal Discussion

Our 12 Year-Old Selves

Truth Disclosure Discussion

You can also access the text of group members' talks on the subject via the Raising Awareness page. A number of articles on truth-disclosure can be read via our AIS in Articles/Books page. See also Group Meetings and Personal Stories.

Overview

Some clinicians and parents still adopt an old-fashioned, paternalistic attitude and withhold the genetic and gonadal information, but most professional carers now recommend truth disclosure with psychological support and counselling. Unfortunately, keeping the condition a secret can become more important to some parents than acknowledging their child's need for emotional support and full medical care. It wastes mental and emotional energy that is better spent in helping the child come to terms with the truth. Many patients will otherwise seek diagnostic and therapeutic information via medical libraries and bear the burden alone and in silence. Or they will wrestle with perplexing half-truths, or reach false conclusions (e.g. that gonadectomy means they have cancer). The rights of the affected person to assign meaning to their condition via a diagnosis, and perhaps seek out a support group, must also be considered.

If the parents' emotional needs and anxieties are addressed with psychological support and counselling from professionally trained staff, it will be easier for them to be truly supportive of their child. Everyone will feel better if there are no taboos about the subject. Talking, like grieving, is therapeutic. It enables feelings to be confronted and resolved. Pushing the matter under the carpet is just storing up psychological trouble for later.

Dr. Lih-Mei Liao (Consultant Clinical Psychologist at the UCLH/Middlesex Hospitals and one of our advisors) has written a Clinical Psychology Information Leaflet (in PDF format) about help for people whose medical conditions affect their reproductive or sexual development.

Note: You need to have a PDF Reader on your PC in order to access PDF files. See About this Site page for more info.

In 1999 we joined with some other support groups under the guidance of the UK's Genetic Interest Group (GIG) to produce a leaflet aimed at families receiving a diagnosis of a genetic condition, to help them frame the questions they might need to ask of clinical staff (and including a list of possible questions). See Literature page.

It is important that parents encourage discussion with their child, and actively seek out information on their behalf. Preparing the child for intimate personal relationships as an adult should be a priority, tempting as it may be to divert their attention towards substitute goals.

In CAIS, the person will look like a girl and problems of psychosexual identity as a biologically-determined feature of the condition are unlikely. However, secrecy can lead to isolation without psychological support and can cause serious emotional problems. In CAIS, leanings towards heterosexuality, lesbianism or bisexuality seem no different to females in general.

A Phased Approach

Dr. Richard Stanhope (Consultant Paediatric Endocrinologist, Institute of Child Health, 30 Guilford St., London WC1N 1EH, UK) believes that an AIS child (as opposed to an adult) needs first to be told half-truths - things that they can understand but that are not lies. For example, an explanation may have to be given as to why there are scars in the groin due either to a hernia repair or a gonadectomy. This may be explained as "an operation to see whether the ovaries were there" with a further explanation that "that is why oestrogen treatment is needed at puberty". He recommends that the girl should be told about any significant shortening or absence of her vagina at an early age so that she will not attempt intercourse without the appropriate therapeutic help.

At around the mid teens, he says, she should be told everything about her condition, including the karyotype. He says that having listened to adult women with AIS, he has no doubt at all that the diagnosis should be revealed in total, but is not sure about the appropriate age for this. He tends to take his lead from the parents, but in his experience girls in their mid-teens cope with such a diagnosis extremely well. Whether the diagnosis is explained to the patient by an endocrinologist, in the presence or absence of the parents, and with the presence of an expert psychologist, he is a little uncertain. However, he now always insists that the girl is told at a reasonably appropriate age.

Conclusions

An AIS adult, who addressed an endocrinology conference in 1996, concluded her talk as follows:

During the last three years increasing numbers of adults with AIS have made contact with the AIS Support Group, and the very interesting fact is that they do not really talk at all about their XY chromosomes and testes, or in most cases about their infertility (in other words, those things on which doctors and parents seem to concentrate their thoughts and anxieties). The real issues, in CAIS at least, seem to be a) the lack of support, information and therapeutic intervention, due to secrecy, b) lack of pubic hair and menstruation as a rite of passage (and marginalization during puberty as a result), c) vaginal hypoplasia in some cases, and d) being displayed as a freak in front of medical students and having to undergo medical photography (in other words, all those things that doctors and parents dismiss, or fail to acknowledge as being traumatizing).

You may think that my own experience merely reflects the medical practice of a previous generation, but even our younger adult members talk of isolation and shame; a sense of having missed out on adolescence, a feeling of being an alien outside of normal society, a sense of suffering from a condition whose very existence is denied, which is therefore 'invisible' and to which they can ascribe no meaning or validity. These stigmatized people are angry with their parents, especially their mothers - not for passing on the defect, but for not talking; they actively avoid doctors for long periods, they default with their HRT, don't get their bone density monitored and risk osteoporosis; and their XX female relatives are not made aware of their possible carrier status. And all as a direct result of secrecy, lies and half-truths, and a glossing over of their deficiencies, stemming from what appears to them as an unacceptability of their condition in the minds of doctors and parents.

The support group is doing what it can to provide support and information but it is vital that psychology professionals should be involved at the time of diagnosis or information disclosure. In conclusion, I should like to advocate a lot more emphasis on psychological care - in the first instance for parents, and then for the child/teenager - and a much greater awareness of vaginal hypoplasia with improved methods of treatment for this deficiency.

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Some Quotes to Reflect On

In this section we provide some quotes, accounts and stories that, whilst not speaking directly of AIS-like conditions, cast light on emotional reactions to traumatic life events or bad news in general, and which can also be applied to the shock of finding out about an intersex condition. They may not help in the early stages of dealing with bad news (and those accounts that talk about bereavement might be quite depressing) but the hope is that they offer insights on what's important when you've had time to catch your breath and think how best to move on. They address issues such as the importance of talking about things, the dangers of denying or smothering the emotional response which is an important part of the grieving... and therefore the healing... process, the destructive nature of secrets etc.

There is no doubt that coming to terms with something like AIS is a huge challenge but one which can make someone into a stronger, more evolved person. After all, most people don't ever have to consider such deep and fundamental questions about the very nature of their being.

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'Disease Talk' and 'Illness Talk'

"Illness is the experience of living through the disease. If 'disease talk' measures the body, 'illness talk' tells of the fear and frustration of being inside a body that is breaking down. Illness begins where medicine leaves off, where I recognise that what is happening to my body is not some set of measures. What happens to my body happens to my life. My life consists of temperature and circulation, but also of hopes and disappointments, joys and sorrows, none of which can be measured. In 'illness talk' there is no such thing as the body, only my body as I experience it. 'Disease talk' charts the progression of certain measures. 'Illness talk' is a story about moving from a perfectly comfortable body to one that forces me to ask: What is happening to me? Not it, but me...."

"....A person who finds no one willing to take the time and offer the help necessary to bring forth speech will protect him/herself by saying nothing. But the time when I cannot immediately put something into words is usually the time when I most need to express myself..... The problem is finding someone who will help you work out the terms of that expression."  

From At the Will of the Body - Reflections on Illness (Houghton Mifflin, Boston/New York, 1991) by Arthur W. Frank, Prof. of Sociology, University of Calgary, Canada (see also Telling the Illness Story)

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The Five Stages of Grief

Excerpted from obituary in The Times (2 Sept 2004) for Elisabeth Kubler-Ross, “the Swiss born physician whose blunt but human view of the proper care for the dying polarised the US medical establishment”.

At the heart of Kubler-Ross’s eleven published books is her “Five Stages of Grief”... ...In this she posited that a patient, when told that their illness is teminal, will progress through five stages: denial, anger, bargaining, depression and then acceptance... ...Kubler-Ross held that these stages could apply to any dramatic life change...

...She moved to the United States in 1958 and worked in large hospitals... ...”They [dying patients] were shunned and abused; nobody was honest with them,” she said. She made a point of talking to patients with terminal illnesses. “My goal was to break through the layer of professional denial that prohibited patients from airing their innermost concerns,” she wrote...

...Doctors, she said, had become scientists, unable to relate to a terminal patient as anything more than a bundle of components. As a direct result of Kubler-Ross’s crusade, hospices and other terminal-care facilities stopped being leprous backwaters and joined the mainstream of medicine.

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I Do, I Undo, I Redo

I DO is an active state. It's a positive affirmation. I am in control, and I move forward towards a goal or a wish or a desire. There is no fear. In terms of a relationship, things are fine and peaceful. I am the good mother. I am generous and caring - the giver, the provider. It is the "I Love You, no matter what."

The UNDO is the unravelling. The torment that things are not right and the anxiety of not knowing what to do. There can be total destruction in the attempt to find an answer, and there can be terrific violence that descends into depression. One is immobile in the wake of the fear. It is the view from the bottom of the well. In terms of a relationship to others, it's a total rejection and destruction. It is the return of the repressed. I take things away. I smash things, relations are broken. I am the bad mother. It is the disappearance of the love object. The guilt leads to a deep despair and passivity. One retreats into one's lair to strategise, recover and regroup.

The REDO means that a solution is found to the problem. It may not be the final answer, but there is an attempt to go forward. You get clearer in your thinking. You are active and have confidence again. In terms of relationships to others, the reparation and reconciliation has been achieved. Things are back to normal. There is hope and love again.

These are the words of the 89 year-old artist, Lousie Bourgeois, describing her three monumental metal sculptures installed in the turbine hall at the opening of new Tate Modern art gallery in London, and which she described as "sites of encounter" in which the spectator is encouraged to climb.

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A Time for Happiness

Excerpted from 'A Time for Happiness', The Sunday Times Magazine (17 Aug 2003). Three years ago Charlotte Rampling made a film that seemed personally resonant in its tale of unbearable grief. Now she has made another film with director Francoise Ozon, which takes a far happier turn. She reveals to Suzie Mackenzie how, together, the two films reflect her own life - burdened for decades by an oppressive secret that she can now let go.

The first time I heard Charlotte Rampling say, "My sister Sarah died of a brain haemorrhage. She was in Argentina. She was 23" the thought that came into my head was Saul Bellow's line, "Some people just can't grasp grief." But then I saw her, three years ago, in Francoise Ozon's small fragile masterpiece Under the Sand, and I knew I was wrong. Here was grief -- numb, dumb, bewildered, blundering grief. In the film she plays Marie, a middle-aged woman, apparently happily married, whose husband, Jean, swims out to sea on the first day of their holiday and doesn't return. Has he drowned inadvertently? Has he committed suicide?…

…At the time of the film she gave a Guardian/NFT interview in which she talked about grief. "To grieve is extremely difficult, we don't even know how to begin to grieve…" And it's true, we can't learn how to grieve. Grief charts its own miserable, invisible progress. She went on, "But it's how to come to terms with suffering… not to resist it, not to deny it, but to accept it."

Meeting her a few days later for our interview, I felt no trepidation. We would talk about grief, the subject of her film, and we would talk about Sarah and about Charlotte. Ozon had said to me this was really a film about Charlotte. "I used Charlotte as she is in life. Glamorous, with a certain magic. But beneath is something you feel, very strong, very deep. Something she doesn't show through actions of words. Feelings." He also said something very acute. "Charlotte makes a confusion between reality and fantasy…" By this I think he meant that behind the glamour, the magic, we sense something else, not quite consistent with the facts as they appear. If one definition of a mystery is two parallel stories -- one in which you see what is going on, one in which you don't - then Charlotte Rampling has always been a mystery.

At the very end of Under the Sand, Jean's apparition appears on the beach where he disappeared. Marie runs towards it as it recedes. Grief is not, or not yet, in her grasp. If I'd paid more attention to Ozon's signals in the film, I should have known the interview would not go well.

Three years ago I had asked her a question, probably an intrusive question, but I wanted to know about the moment when the switch on reality turns, when everything you have understood up to that point becomes irrelevant, a non-reality. I asked her who had received the phone call advising the family of Sarah's death. "I made a pact with someone a very long time ago that I would never discuss this and I will not," she said. "My sister died of a brain haemorrhage, in Argentina, when she was 23. That is all." And with that she closed the lid and sat on it. I remember we talked also about secrets. Secrets destroy the personality, I said to her. They kill you in the end. No, she said. That can't be so. "Secrets we hold to protect people when they must be protected." The interview ended not acrimoniously, but certainly awkwardly, with neither of us, I think, having any particular desire to see the other again. So I was a bit surprised when she agreed, three years on, to another interview, this time to discuss Ozon's new film, another film he has written specifically for her, Swimming Pool.

Swimming Pool is a film about truth that plays around with versions of truth…. Anyway, I came out of the film liking Rampling a great deal. I told her so when I met her. I had dreaded seeing the film. Why? She asked. Because I did not think she could be that likeable. "Ah," she said. "But I am not the same person that you met before. Something has unlocked that hadn't unlocked when I saw you last… It was just beginning when I met Ozon and made Under the Sand," And: "So, if you asked me [the same questions], I would now say different things to you."

So I did ask her, the question I thought she would never find it in herself to answer. What would she say now about the death of her sister? She didn't pause or look remotely surprised. "I would say that she committed suicide. She shot herself, in Argentina, when she was 23. The son that she had just given birth to, prematurely, was still in hospital. Sarah's husband rang my father. He didn't tell me the truth for three years." I have made this sound like a litany and perhaps it was. She has waited a long time to answer precisely this. After he told her, her father said to her, "Go out and live your live. I will look after your mother." We made a pact then that my mother would never know. So I couldn't say [the truth] - not while she was alive. But she died two years ago." And the pact died with her.

Rampling held onto this secret for more than 30 years. Sarah died in 1966. Thirty-odd years in which she married… had her children… made her career… Suffered depression. "I knew I was going to have a day of reckoning, all through my early 30s I knew, and I remember the day it happened, thinking, 'Shit, here it comes.' My second son was five, I was 35. And one day I had the worst feeling of dread… I'd thought everything in my life was hunky-dory, my life was great. Well, the truth is you don't think. And then it happened, that terror, and I was haunted from that moment." All this time she gave countless interviews in which she projected a perfect life. "I had to. I needed to create the perfect family in which nothing could go wrong… the house, the garden, the rabbits, the hamster, the dogs. Everything. Until it became so complicated…" And then she cracked, as she says, like a plate. In 1984 she began to seek treatment for depression.

I say to her that it strikes me as a Faustian pact, and one that her father had no right to impose on her. It was done for the best reasons, she says. "It was a good impulse to protect my mum… It was out of kindness that he said go and live your life. But it was unkind in another way, because you have to come to terms with your present. In a sense, he sent me off and actually it doesn't work that way." So, she says, "If I were to advise anyone, I'd say you mustn't run away. You must face it. Because you can't alleviate your own suffering and you can't alleviate suffering for other people. You can't take away someone's right to suffer as much as you are… So my father, you see, had no right actually not to allow my mother to cope with the truth. Certainly she never coped with the lie. Soon after her daughter's death, she had a stroke and stopped speaking. All her remaining life she was unwell. "She came in and out of various stages of grief.". So maybe, Charlotte says, she did know. "She was so close to this girl. Maybe all her not getting well was because she knew there was a terrible secret."

I asked if now she would say that all secrets, whatever their ostensible purpose, are terrible. The real problem with secrets, she says, is that they make you powerless. "The actual secret is just a fact. One person's secret is another person's commonplace. A suicide is a reality. And reality is reality. But if reality is not let in, if it's kept in the dark, then that is where the secret draws its power. It draws all strength to itself and to the keeping of the secret." So the secret then has the power that by right should be yours.

If you look back over her career, you can see exactly where the powerlessness set in. The truth was told to her in 1969… In 1969, she made Visconti's The Damned, with Dirk Bogarde, and began not so much a flirtation, more a self-flagellation, with stylised and fetishistic decadence… …But after Under the Sand there was some kind of rebirth. Taken together, the two films she's made with Ozon dramatise the central story of her life. In a film about immersion - immersion in the self, immersion in work, literal immersion in the swimming pool, in Rampling's character's face smiling for the first time as she watches Julie break through its surface - she is utterly immersed. And in the character of Julie, the wild child, Ozon offers Rampling a kind of alter ego - the girl she might have been, liberated, serious, carefree, sometimes careless, more exploiter than exploited - if only. "If only Sarah hadn't died…. Yes, I think that's right."

It took a long time, I said to her. "Yes," she said. "But some things do take a long time, don't they?" She named her character in Swimming Pool, Sarah, after her sister. "I thought that after such a very long time of not letting her be with me that I would like to bring her back into my life."

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The Things Left Unsaid

Excerpted from ‘The Things Left Unsaid’, an article in The Guardian Weekend (29 Oct 2005) by Jodi Bieber about Decca Aitkenhead’s experience of her mother’s death. Decca was eight when she was told that her mother had a year to live; told about the illness and the inevitable death, no detail spared... except for the secret that would emerge 20 years later and change everything.

Our mother told us everything about her dying, except that it would break our hearts.

When she had to tell us that her breast was going to removed, I still don’t remember a great deal of drama. It was the necessary, sensible solution to the problem of this lump. The language of fear and disfigurement never featured in family conversations, so it never entered my head. When we visited her after the operation, four fuzzy brown and blonde heads around the hospital bed, I only remember her smiling.

Two and a half years after her mastectomy, the cancer had spread from her breast to her lung, and was inoperable... ...The lists were endless... ...Some of her lists addressed mundane practicalities: what to buy for the weekly shop... ...There were also lists for the life she wouldn’t see and would have to guess at. There were her notes on hypothetical motherhood, anticipating needs of teenagers she would never know, and so by necessity they were endlessly contingent: if such-and-such were to happen... then... ...If we organised ourselves properly, the possibility of loss could be eliminated altogether. It was just a question of restructuring... ...As long as we kept on top of the problem, there was no need to feel sad – for what was death in the face of a thoroughly thought-out plan?

The material fact that our mother was dying was discussed every day, everywhere. The houses of our parents’ friends were as much a home to us as our own...an extended version of the nuclear family. Now it was organised into a kind of committee for bereavement, intimately and openly involved in the process of her death. She seemed to be fearless, addressing every dimension with academic rigour... ...But I don’t remember talking to anyone about how it felt to watch her dying. It would have been unspeakably disloyal in the face of so much constructive resolve. Everything was being arranged, so I couldn’t see anything useful to say... ...Even as she slipped closer towards death, I found it almost impossible to believe something terrible was happening. How could it be, when the consensus was that we were managing so well?

I knew she had died the next morning when I woke to the sound of my eldest brother crying... ...I think her body was taken away that evening, and the following morning we all went to school... ...At the funeral, all the grown-ups had wept, but I saw no more tears after that, and although their intention must have been to spare me, the embargo on grief had a profound unintended consequence. It was plain to see that nobody was crying any more. There had to be a reason for this – and to me, the logic was obvious. If nobody was crying, there was nothing to cry about. And if there was nothing to cry about, then I should work out how to stop feeling sad.

I was finding it increasingly difficult to remember my mother. When anyone dies, the bereaved take comfort in a degree of posthumous deification. When someone dies young, the revisionism can get completely out of hand. In no time at all, the woman whom grown-ups described when remembering my mother had turned into a total stranger – a fairytale creature of mythical virtue.

The deification, rather like a video recorder, taped over my own memories until they were all gone, and replaced them with a technicolour memorial to somebody else altogether. I could hardly miss someone I didn’t even know, so it became increasingly implausible to consider myself bereaved. If I found myself feeling inexplicably sad, I would think about their loss, and feel terribly sympathetic. Secretly, I wasn’t sure I even liked this woman…

It was hard to feel love for my mother when she was such a fearful rival. But how could I hate her? Hate would be a symptom of failure – one to which my mother, with her legendary capacity for love, would presumably never have succumbed. The only target of angry frustration would have to be myself – and it fuelled the relentless self-improvement drive that I substituted for childhood.

Very occasionally, I would risk the thought that my mother had enjoyed an unfair advantage by not losing her own mother at nine, and perhaps this entitled me to some allowances. But nobody else suggested this, so the answer appeared to be no. In a sense, the situation made for a happy coincidence of desires. The grown-ups all wanted me to be fine, so they were enthusiastic witnesses for evidence to that effect. I wanted to appear as brilliant as my mother, so concealed any evidence to the contrary.

I tried so hard through my teens to evoke my mother’s warmth. But losing a parent, and deciding not to mind, can cauterise your senses and make you dangerously cold. Your contemporaries seem weak and needy, their problems pitifully trivial, and you find yourself stranded, displaced beyond the reach of empathy. People who undergo an intense narcotic experience at an early age sometimes describe feeling as if their entire sensory perception has been repositioned, their perspective for ever altered. Something of that sort happened to me.

My memories of our mother’s death may of course be unreliable... ...We cannot all share the same memories, and loyalty to one story can be the betrayal of another... “Everyone tells stories,” [Jennie] Erdal wrote [in her memoir Ghosting]. “And all storytellers are liars – not to be trusted. They have an excessive need to make sense of experience, and so things get twisted and shaped to suit. We fumble about in the fog, and patterns come to us eerily like distant foghorns over the water.” Some patterns take time to reach us.

Some patterns were so subtle, I never even noticed them. When I grew up and left home, new friends would become aware at some point that my mother was dead, but nobody asked questions. I wasn’t conscious of deterring them deliberately – but evidently something was communicated to put people off, and it worked. I never used to give it a thought. Looking back now, I imagine what they sensed was a stony refusal to allow the matter a moment’s significance.

The certainty of its insignificance endured for 20 years. Perhaps it might have lasted forever - but five years ago, quite by accident, I made a discovery. At the heart of my mother’s death, it turns out, there had been a big secret after all... ...She had obtained a pill that would kill her. The night she died had been planned in advance; she chose the moment, and took her own life. It meant she was knew she was saying goodbye when we said goodnight for the last time. Her closest friends had been told as well. While the four of us slept, the terrible drama of their final goodbyes was being played out in her bedroom, and when we woke the next day, thinking fate had taken its course, we were quite wrong. Our father had known he would be breaking the news all along.

Did it matter? At first I wasn’t sure. Our mother’s belief in a person’s right to control the moment of their death was well known... ...But I’d taken her arguments for hypothesis, never dreaming she had found the means to make it real. My mother had decided we must not be told.

I tried to tell myself it was of little consequence, and in a literal sense it was true, for she was close to death, sparing only the unknowable horrors of the end... ...But I do not think it is possible to break a promise without paying a price. A lie doesn’t become dangerous only with exposure; it is toxic, however well buried. But I think the secret leaked in ways they could never have imagined, and that at some wordless depth all of us sensed something withheld. I wonder if it is why my brothers and I withdrew so soon into our own private sorrow.

I wonder too, it it’s why the grown-ups closest to us could keep their grief under such a formidable grip. More than the pressure of secrecy, there is something about ending a life that transmits an expectation of control – an illusory omnipotence that interferes with emotions, stunting their natural course. There always seemed to be something unreal about the manner in which my mother was remembered, and I think this might have been why.

Of course I do not really know, and never will. I know, though, that the discovery of the lie was like the lifting of a rule. For the first time, I began to think about the rational attitude to death we had devised – and the awful aridity of this brilliant self-delusion.

My family had organised a system of bereavement in which anything as chaotic as anguish could be reasoned away. We imagined we were sparing ourselves the indignity of emotional commotion – but didn’t realise that, without it, recovery is forever deferred, leaving you suspended in a state of pressure with no possibility of release. We held ourselves to together, congratulating ourselves on our superior analysis of death, as if grief were a form of obesity or debt – a shamefully irrational lapse of self-control.

It is easy, in retrospect, to glorify the virtue of emotional chaos. Had everyone around us gone to pieces, I might have resented their weakness more than I regret their control, and it feels treacherous to condemn what was meant to spare us. Their only compass was the children’s interests, and it was followed faithfully. I couldn’t truthfully say I’d know any better. But I no longer believe in the middle-class fallacy that if only you’re clever enough, you can find a way to save yourself from common misery... ...We tried to be meticulously honest with information – and I was not a little smug about it – but the facts we faced were only those we could find a way to intellectualise. Our mother told us everything about her mastectomy, except that it devastated her, and everything about dying, except that it would break our hearts. She couldn’t tell the unbearable truth that her death was a disaster from which we would never recover, no matter how many lists she wrote.

It never occurred to me back then that anything was being left unsaid. I took what I saw at face value. But the conclusion to which it led me was a fatal misunderstanding – one that, had she realised, would surely have broken her heart. But how could she have guessed what a child would make of the equanimity with which she appeared to face death? I took it to mean only one thing: that she didn’t really mind. She was leaving her children for ever – and as far as I could see, she didn’t really mind.

What shocks me now are the photographs of my family from the years around her death. We look utterly broken and alone. It would be obvious to anyone at a glance – and yet for years the suggestion would have astounded me. When I used to look at those photos, I saw only the happy family I’d been asked to see, and never thought to doubt my eyes. The loyalty frightens me now, for how can it be unlearned? If I could believe that no one was missing, then I can probably believe anything at all.

[Back to Index]


General Refs:

See Medical Literature Sites on our 'Links to Other Sites' page for ways of accessing journal articles.

1) Diagnosis/Carrier Testing

Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J., Hughes I.A, Patterson M.N: Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Human Molecular Genetics, Vol. 1, No. 7, 497-503, 1992.

Batch J.A., Patterson M.N., Hughes I.A: Androgen insensitivity syndrome. Reproductive Medicine Review 1992, 1: 131-150.

Hodgins M.B., Duke E.M., Ring D: Carrier detection in the testicular feminization syndrome: deficient 5 alpha-dihydrotestosterone binding in cultured skin fibroblasts from the mothers of patients with complete androgen insensitivity. J. Med. Genet. Jun 1984, 21, (3), p178-81.

Batch J.A., Davies H.R., Evans B.A.J., Hughes I.A, Patterson M.N: Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch. Dis. Childh. 1993; 68: 453-457.

Shull B.L., Taylor P.T.: Testicular feminization syndrome: a case study of four generations. South Med. J; 1989 Feb; 82(2); p251-4.

Griffin J.E., Wilson J.D: The syndrome of androgen resistance. N. Engl. J. Med. 302:198-209 (1980).

Quigley C.A., Friedman K.J., Johnson A., Lafreniere R.G., Silverman L.M., Lubahn D.B., Brown T.R., Wilson E.M., Willard H.F., French F.S: Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. Clin. Endocr. and Metab. 74 (4) p927-33 1992.

McPhaul M.J., Marcell M., Zoppi S., Griffin J.E., Wilson J.D: Genetic Basis of Endocrine Disease 4: The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J. Clin. Endocr. and Metab. Vol 76, No 1 (1993).

Stephens J.D: Prenatal diagnosis of testicular feminization. Lancet 2:1038, 1984 (letter).

Lobaccaro J.M., Lumbroso S., Pigeon F.C., Chaussain J.L., Toublanc J.E., Job J.C., Olweniczak G., Boulot P., Sultan C: Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene. J. Steroid Biochem. Mol. Biol. Dec 1992, 43 (7) p659-63.

Pambou O., Ball F., Wurch T., Teulie P.J., Adl T: Testicular feminization syndrome. Prenatal diagnosis: observations apropos of 2 sisters (French): Rev. Fr. Gynecol. Obstet; 1988, Jul-Sep; 83(7-9); pp 547-50.

Ahmed S.F. et al: Phenotypic Features, Androgen Receptor Binding and Mutational Analysis in 178 Clinical Cases Reported as Androgen Insensitivity Syndrome. J. Clin. Endocr. and Metab., Vol 85, No. 2, 658 - 665 (2000).

Minto C. L. et al: XY Females: Revisiting the Diagnosis. BJOG (an International Journal of Obstetrics and Gynaecology), Vol. 112, pp. 1407-1410, October 2005.

2) Truth Disclosure/Psychology

Minogue et al: Case Studies - The Whole Truth and Nothing But the Truth? Hastings Center Report, Oct/Nov 1988. A philosophical debate covering opposing viewpoints on the question of truth disclosure in AIS. For transcript see AIS in Articles/Books.

Michael Green and Benjamin Horowitz: Reflections - Until I Met Mary. Journal of General Internal Medicine, Vol 4, Nov/Dec 1989. A doctor's account of his personal conflicts in deciding whether to disclose the truth to a patient. For transcript see AIS in Articles/Books.

Janet Goodall: Helping a Child to Understand her Own Testicular Feminization. The Lancet, (337), Jan 5, 1991. A key paper by a paediatrician (now retired) suggesting a phased approach based on developmental milestones. For transcript see AIS in Articles/Books.

Breaking Bad News: A Guide for Healthcare Professionals, by Dr. Robert Buckman, Papermac, 1992, ISBN 0-333-548647.

Dr. Elizabeth Scott: Does She Need to Know.....? GP Magazine, 19 Feb 1993. For transcript see AIS in Articles/Books.

Sex Errors of the Body and Related Syndromes, by John Money. A book written for parents and patients, as well as counsellors and physicians. Paul H. Brookes Publishers, P.O. Box 10624, Baltimore, MD 21285-0624, USA, 1994.

Slijper FME et al: Neonates with Abnormal Genital Development Assigned the Female Sex: Parent Counseling. Journal of Sex Education and Therapy, 20/1 (1994), 9-17.

Groveman S: Medical, Psychological and Legal Issues in the Clinical Management of the Complete Androgen Insensitivity Syndrome Patient into Adulthood. A paper drafted in 1997 by Sherri Groveman who founded our sister group, AISSG US. It covers counselling, the clinical examination, truth disclosure, peer group support, vaginal construction, and gonadectomy and informed consent.

Alexander T: Silence = Death. Chrysalis: J. Transgressive Gender Identities. 2: 5, Fall 1997/Winter 1998. Available at http://www.amboyz.org/articles/issoffa.html or at http://www.isna.org/drupal/chrysalis. Also reproduced in the book Intersex in the Age of Ethics edited by Alice Dreger.

Morgan Holmes: Is growing up in silence better than growing up different? Chrysalis: J. Transgressive Gender Identities. 2: 7, 1997/98. (May be available in same places as Alexander article above?).

Slijper F.M.E. et al: Long-term psychological evaluation of intersex children. Arch. Sex. Behav., 27: 125-44, 1998.

Hines M. et al: Gender Development and Psychological Well Being in Patients with Androgen Insensitivity Syndrome (AIS). Horm. Res. 50 (suppl. 3): p.116, 1998

MacKinnon A.E: Androgen insensitivity syndrome: How much to tell families of girls with inguinal herniae regarding the possible diagnosis. (15 Nov ‘98). Article that was originally on the web site of the British Association of Paediatric Surgeons. Somewhat paternalistic stuff, with medics acting as gatekeepers to diagnostic information without mentioning possible involvement of a clinical psychologist.

Preves S: Sexing the Intersexed: Lived Experiences in the Socio-Cultural Context. Research study (doctoral thesis?) by Sharon Preves (now Assistant Prof. of Sociology, Grand Valley State University, Allendale, Michigan), 1998 (1999?).

Hines, M., Ahmed, S.F., Fane, B.A., Hughes, I.A: Gender development and psychological well being in individuals with complete androgen insensitivity syndrome (CAIS). Women recruited through physicians compared to those recruited through support groups and to unaffected male and female controls. Archives of Disease in Childhood. 80(1S) Supplement:47A, May 1999.

Kitzinger C: Intersexuality: Deconstructing the Sex/Gender Binary. In Feminism and Psychology: An International Journal, Nov 1999.

Kitzinger C: Women with Androgen Insensitivity Syndrome (AIS). in Ussher J. (ed.) Women's Health: An International Reader, Leicester: British Psychological Society, www.bps.org.uk, (2000).

Murphy M: Intersexuality: Still Taboo in the 21st Century. M.Sc. thesis, Dublin City University, 2000.

Nahman M.R: Embodied Stories, Pragmatic Lives: Intersex Body Narratives on the Net. M.A. thesis, Graduate Program in Social Anthropology, York University, Toronto, Canada, Sept 2000.

Alderson J: XY Women with Androgen Insensitivity Syndrome (AIS): A Qualitative Study. D. Clin. Psychol. thesis, University of Leeds School of Medicine, Academic Unit of Psychiatry and Behavioural Sciences, Sept 2000.

Smith S: Experiences of sexuality reported by women with intersex conditions who have undergone some form of genital modification: A tale of two sexes? D. Clin. Psychol. thesis, Department of Psychology, University of East London, Romford Rd., Stratford, London E15 4LZ, 2000. See summary in "13th UK Group Meeting" in ALIAS No. 19.

Rye B.J: Attitudes toward a woman with AIS: Implications for disclosure. Study by a psychologist from Ontario, Canada, who herself has eight AIS relatives. 2000. See "Extended AIS Family" in ALIAS No. 10 and "5th US Group Meeting" in ALIAS No. 18.

Slijper F.M.E. et al: Androgen insensitivity syndrome (AIS): Emotional reaction of parents and adult patients to the clinical diagnosis of AIS and its confirmation by androgen receptor gene mutation analysis. Hormone Research 53: 9-15, 2000.

Dreger A. Jarring Bodies: Thoughts on the Display of Unusual Anatomies. Perspectives in Biology and Medicine, Vol. 43, No. 2, Winter 2000.

Le Maréchal K. (Gt. Ormond St. Children's Hospital, London): Bringing up an XY girl: Parents' experience of having a child with androgen insensitivity syndrome. Unpublished thesis, 2001.

Daaboul J. and Frader J: Ethics and management of the patient with intersex: a middle way. J. Pediatr. Endocrinol. Metab. 14: 1575-1883, 2001.

Abramsky L: What Parents are Told after Prenatal Diagnosis of a Sex Chromosome Abnormality: Interview and Questionnaire Study. British Medical Journal 332 (Feb 24, 2001), 463-466.

Gayner J., Witchel S.F. and Lee P.A: Assessing care of intersex patients: Initial survey results. Pediatr. Res. 51: suppl 119A (abstract), 2002.

Creighton S., Alderson J., Brown S., Minto C.L. Medical photography: ethics, consent and the intersex patient. British Journal of Urology (BJU) International, Jan 2002: 89: 67-72.

Melton Lisa: My Doctor Lied to Me. A UK group member features in this article (on Dr. Cathy Minto's Well Aware web site).

Cull Melissa: Treatment of intersex needs open discussion. (letter) BMJ, 13 April 2002, 324: 919.

Carmichael P.A. and Ransley P.G: Telling Children about a Physical Intersex Condition. Intersex: Gender Identification, Outcomes and Controversies Part I. In Dialogues in Pediatric Urology, Vol 25, No. 6, June 2002.

Migeon C. et al: 46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction with Knowledge in Adulthood. Pediatrics 110/3 (Sept 3, 2002).

Berenbaum, S: Management of Children with Intersex Conditions: Psychological and Methodological Perspectives. Growth, Genetics and Hormones, March 2003, 19(1) View online at www.gghjournal.com.

Hines, M., Faisal Ahmed, S., and Hughes, I. A: Psychological Outcomes and Gender-Related Development in Complete Androgen Insensitivity Syndrome. Archives of Sexual Behavior, 32 (2), 93-101 (2003)

L. M. Liao: Learning to assist women born with atypical genitalia: Journey through ignorance, taboo and dilemmas. In: L. M. Liao and L. Glover (eds) Reproductive Psychology: Integrating Theory and Research in Practice (Journal of Reproductive and Infant Psychology, special issue), in press 2003.

Warne G. L: Support Groups for CAH and AIS. The Endocrinologist (special issue) Volume 13 (3), May/June 2003, pp 175-178. Dr. Garry Warne's experience of support groups in Australia.

Creighton S. M., Minto C. L., Liao LM, Alderson J. and Simmonds M: Meeting Between Experts: Evaluation of the First UK Forum for Lay and Professional Experts in Intersex. Patient Education and Counselling, Volume 54, Issue 2, August 2004, pp 153-157 (also available on ScienceDirect). Discussion of the 'Intersex in the New Millennium' symposium, staged by UCLH clinicians and AISSG UK in Jan 2002 (see Announcements page on this site for details of the symposium).

Hester D: The Rhetoric of the Management of Intersexed Children. Genders (2003). Available at http://www.ars-rhetorica.net/David/Genders.html.

Chase C: What is the agenda of the intersex patient advocacy movement? Endocrinologist 2003; 13: 240-2.

Alderson J., Madill A. and Balen A: Fear of Devaluation: Understanding the Experience of Women with Androgen Insensitivity Syndrome. Br. J. Health Psychol (2004) 9: 81-100.

Simmonds M: Patients and Parents in Decision Making and Management, in Balen A. et al (Eds.): Paediatric and Adolescent Gynaecology: A Multi-disciplinary Approach (pp. 205-228). Cambridge University Press (2004). See http://www.cup.org/titles/catalogue.asp?isbn=0521809614.

Kitzinger S: The Myth of the Two Biological Sexes. In: Liao LM. and Boyle M., editors. The Psychologist (Intersex special issue: "Born Different: People with Male and Female Characteristics"), Vol 17, No. 8, 451-454 (Aug 2004). Journal of the British Psychological Society (http://www.bps.org.uk/publications/thepsychologist.cfm).

Diamond M. and Watson L.A: Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender considerations. Child and Adolescent Psychiatric Clinics of North America (Sex and Gender issue - Guest editors Milton Diamond and Alayne Yates) 13, (2004), 623-640. Paper that came out of a collaboration between Milton Diamond and the UK and US AIS Support Groups.

Conn J., Gillam L. and Conway G: Revealing the Diagnosis of Androgen Insensitivity Syndrome in Adulthood (part of an occasional series, Ethics in Practice). British Medical Journal, Vol. 331, pp. 628-630 (17 Sept 2005). Via BMJ site http://bmj.com/cgi/content/full/331/7517/628?etc.

Gallacher L: The Psychology of Intersex: Research into the Experiences of Individuals/Parents who have Experienced Androgen Insensitivity Syndrome or Congenital Adrenal Hyperplasia within the UK. MA Research degree dissertation (2005). See Raising Awareness for access to a copy of dissertation.

Hester D: Intersex and the Rhetorics of Healing. In Ethics and Intersex, Sharon E. Sytsma (Ed.), Springer, 2006.

Dreger A.D: Intersex and Human Rights: The Long View. In Ethics and Intersex, Sharon E. Sytsma (Ed.), Springer, 2006.

Pfafflin F. and Cohen-Kettenis P: Clinical Management of Children and Adolescents with Intersex Conditions. In Ethics and Intersex, Sharon E. Sytsma (Ed.), Springer, 2006.

Note: there is an overlap between issues of truth disclosure, informed consent and genital surgery. Many of the articles listed at the bottom of our Genital Plastic Surgery page therefore cover the way in which intersex is handled psychologically by the medical profession. See also AIS in Articles/Books page.


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