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Glossary

Sex, Lies and Androgen Insensitivity Syndrome

A presentation given to the Pediatric Endocrinology Nurses Society, Albuquerque, April 18, 1998, by a 65 year-old member of the Toronto-based Canadian AIS Support Group.

Introduction

When Sheila suggested I come here today to talk about Androgen Insensitivity Syndrome, I wondered what relevance a senior like me could have for a gathering of modern medical professionals. My major experiences with this syndrome happened back in the 30's, the 40's and the 50's. Even to me, that feels like the dark ages.

Then I remembered that as recently as 1996 the Canadian Medical Association Journal awarded a prize to a young medical student for writing an essay advocating women with Androgen Insensitivity Syndrome NOT be told the full extent of their diagnosis. Here is the quote from that prize-winning essay:

"The non-specific directive to 'never deceive a patient' indeed may appear to be noble on the surface, but in the case of AIS is not the best course of action." (Ref 1)

Evidently, some important parts of society are still back in the dark ages.

In response to this essay, several of us wrote the Canadian Medical Association Journal challenging the validity of this young woman's argument. The journal published our letters, and the young medical student wrote the following response to our letters:

"I fully recognize that I still have a great deal of training to go through. Your constructive feedback on this complex issue has been a valuable part of my medical education." (Ref 2)

That was impressive. It speaks of real hope for the future. I know from my own life that breaking beyond the lies is the key to unlocking life's potential.

I am happy to be here and join with you as you search for the best interventions for your patients' well being. Thank you for having me.

AIS

We are talking about challenges in communicating with patients and/or their parents about a diagnosis of sexual ambiquity. Our example of sexual ambiquity is Androgen Insensitivity Syndrome.

(By the way, the accepted short form for Androgen Insensitivity Syndrome is AIS - I will use that frequently.)

As Sheila mentioned, I bring you 65 years of personal experience carrying the syndrome. I also bring decades of professional experience counselling adults, children and families who have found themselves stuck in emotional fallout. I bring, too, the words and concerns of members of Androgen Insensitivity Syndrome Support Groups around the world.

First, let us look at what AIS is. AIS is only one of many conditions of sexual ambiquity. And, at least in the complete form, is fairly unique. The complete form is called pseudo-hermaphroditism because, in actuality, all patients are seen as female.

Since I am not a medical person, I can assume some of you have a greater knowledge of this condition than I do. However, because of its rarity, some of you will have only a nodding acquaintance with this syndrome. Let's level out the field with a basic description.

You may have heard of Androgen Insensitivity Syndrome by other terms. The most common has been Testicular Feminization. This one I first heard at the age of 50. It is a limiting, clinical identity tag.

The condition has also been called Androgen Resistance Syndrome, Feminizing Testes Syndrome, Morris's Syndrome, Male Pseudo-hermaphroditism, Goldberg-Maxwell Syndrome and, finally, a name for partial AIS, Reifenstein Syndrome.

Androgen Insensitivity Syndrome is a familial disorder of fetal development of the reproductive system. In this syndrome, a child is conceived with male (XY) chromosomes. Embryonic testes develop inside the body, and at about 8 weeks, androgen production begins. However, these male hormones cannot complete the male genital development due to a rare insensitivity of the fetal body tissue to androgens. This insensitivity is caused by a mutation of the androgen receptor gene of the X chromosome. Thus, AIS has an X-linked recessive inheritance pattern.

(It is also believed that AIS occasionally is the result of a spontaneous mutation at conception rather than an inherited mutation. I am probably an example of this spontaneous mutation, as we have not been able to identify another AIS individual over a span of 4 generations of my maternal family line.)

With AIS, the developing fetus retains the primitive female body shape, which is the basic embryonic form of all humans. External genital development continues along female lines, but primitive female internal organs (i.e. the Mullerian Tract) do not continue to develop due to lack of hormonal stimulation. Breast development is normal (although nipples remain infantile).

Physiological Effects

As you can imagine, this condition has several effects on a girl's physical development:

1. An AIS fetus does not develop ovaries, fallopian tubes or uterus.

2. The developing vagina will be blind-ended, frequently short and, in some cases, nonexistent.

3. Female pubertal development occurs but there is no menstruation - no possibility of conception.

4. Axillary hair is completely absent.

5. Pubic hair is absent or extremely sparse.

6. The testes may be intra-abdominal, inquinal or labial with risk of hernias or malignant transformation.

A hernia is usually the first indication of the syndrome. If a hernia does not occur, the syndrome is unlikely to be diagnozed until the onset of menstruation doesn't occur.

It is sometimes believed that AIS women tend to be tall and "voluptuously female" with skin always clear - free of acne - which, as we know, is a response to hormones. AIS is reported in some famous models and movie actresses. I haven't heard real proof of this, but it is a nice myth.

The tall I can attest to. I've often been uncomfortable being the tallest member of my family. A gynaecologist once tried to explain it to me by referring to my condition as similar to a mild case of giantism, because, since I lacked hormones, my bones were late in receiving my body's message to stop growing.

It was a thrilling moment when I attended my first support group meeting just two years ago and found myself surrounded by people even taller than myself. Not only taller, but sharing the same shape - big hips, narrow shoulders, more than adequate breasts and really clear skin. All these Dianes - Hey! I was home.....among the family I didn't know I had.

I must admit that some of the members were svelte and not particularly tall. And, yes, there was this one woman whose outstanding height, shape and glowing skin would have attracted a movie producer.

So, that's what we are.

Incidence of AIS

How many of us are there? Since there is no defined reporting process, estimates certainly vary. Standards in any literature I've read are estimates of from 1 in 20,000 to 1 in 60,000.

Two Forms

There are two forms of AIS. They are believed to be different mutations of the androgen receptor gene. We've talked about the complete form. The second type is the partial form. In the partial form, the outward genital appearance can lie anywhere along the spectrum, from almost completely male through mixed male/female to almost completely female. You will now hear me referring to CAIS - the complete form; and PAIS - the partial form. A Polish study of 40 cases of AIS over a 25 year period reported an incidence of 17.5% PAIS. (Ref 3)

The Medical Challenges

Now I'd like to talk about the medical challenges of AIS. There are several:

1. An amniocenteses test will give a false fetal gender reading.

2. Many PAIS children offer a gender identification challenge at delivery.

3. Hernias are common in infancy caused by the inquinal testes.

4. The advisability of a gonadectomy to avoid possible cancerous changes to the testes must be considered.

5. There is frequent need for vaginal extension or construction - and, frequently, more surgery for those with PAIS.

6. Hormone replacement therapy must be considered to avoid menopausal symptoms after a gonadectomy and prevent the development of osteoporosis.

Secrecy Doesn't Work

The task assigned to us today is to consider the relevant issues in talking to your patients and their parents about the diagnosis.

As far as I'm concerned, the primary, number one issue is truth-telling. Let me begin with a quote from my own medical file:

"The condition is due to an inherited defect in handling androgen. It is extremely important that they not be told of their abnormality since this causes profound psychological disturbance" (Ref 4)

It said "causes" profound psychological disturbance, not "can cause" or "may cause", but "causes".

This definitive statement is not backed up by any clinical literature that I have been able to find. I have not read of one case of "profound psychological disturbance" due to a patient's awarenss of her AIS condition.

On the other hand, there are studies that describe patients who have adjusted well. (Ref 5)

It is obvious that profound psychological disturbance as a regular response to awareness of one's AIS condition is a myth.

My opinion is that the physician who originally wrote this notation on my file, and the others who followed that advice, were expressing their own disturbance about ambivalent sexuality - a condition that no medical intervention could change, cure or make go away. The only answer was to hide it.

It was made such a secret that I don't have any idea how much my parents knew of my condition, despite the fact of a hernia operation at 3 and a gonadectomy at 20. The circumstances of these operations were so blurred that the reality never came out in the rare discussions I had with them.

Any reasonably sensitive person (especially a child) readily recognizes when others (particularly their parents) are feeling uncomfortable about them.

I knew something was wrong with me. I knew that something unmentionable was a part of my existence, a feeling so troubling that I did as much as possible to avoid it. I tried hard not to think about it. Eventually, all that was left was a general sense of inadequacy and a conviction that it would never go away. My enthusiasm in all parts of my life was dulled. Even my psychiatrist was unable to help me face the cause of my depression. I had the cause so well buried. I'm sure he guessed the cause, but felt his hands were tied by the medical warning that I must not be told.

I believe that, occasionally, some medical people and some family members tried to give me facts. But, certainly, their hesitancy and incompleteness of information only added to the burden that lay upon me.

Now, if you want to talk about "profound psychological disturbance", there was one - a disturbance caused by the attempts not to cause a psychological disturbance. In not telling me, the doctors (and, seemingly, my parents) caused the exact problem they were trying to avoid.

My parents were two very fine people. They only needed information and encouragement. It would have freed their feelings, and mine, so much. If only some wise doctor had encouraged my parents to talk to me. Together we would have had a much different life. Without all the secrecy, confusion and guilt, they could have been in a better space to help me. We wouldn't have had to carry this yoke of silence throughout our life together.

My friends, secrecy doesn't work.

Throughout my life, I picked up bits of information and, finally, at 50 I asked my GP directly if I was born with testicles. Thank God she was as direct with her answer as I was with my question, and the whole story came out. And, with that story, began a freedom from something that had been poisoning me for over 45 years.

But, that was 45 years too late - 45 years of feeling that no matter how hard I tried at life, I wasn't going to succeed, because there was this terrible thing about me. I could tell you a whole history of opportunities not taken because of this feeling, but it would take so long.

I can even remember my mother sharing this feeling about me. When I became at all adventurous as a child, her message was always, "don't try". She overprotected me, which only strengthened my sense that I was essentially doomed to a life of inadequacy.

I remember sitting in my apartment at 33, feeling an utter frustration and sadness about my life. I realized that no matter how hard I tried (and I certainly did try hard), nothing seemed to lead to enjoyment in life. At that point, I knew there was nothing more I could do on my own, and I reluctantly decided to get myself to a psychiatrist. And that's another whole story.

At this point, I would like to plead with you. There are lots of worse things in life than having AIS!

Some human beings are called on to face, handle and overcome far worse things, as you well know.

An Essential Human Right

We all have the right to face the challenges that fate visits upon us and, through facing them, strengthen our capacity to live effectively. To take that opportunity away from any human being is to devalue that life and disrespect an individual's potential for strength. In effect, you are saying, "This person can't be expected to measure up!" You are relegating this person to second class status, really a throw-away person. I have felt that way after talking to medical practitioners who obviously were obfuscating. And, God rest her soul, I certainly felt this from my mother.

Learning From The Chinese

Perhaps, the wisdom of that oldest and wisest culture - China - can help us.

The Chinese have a character for our term "crisis". It is, in fact, two characters, one on top and one on the bottom. The one on top is simpler with less parts and is the symbol for "danger". The bottom character has many, many parts and is the character for "opportunity".

When you have a crisis in your life, you first see the danger. Then, if you see the danger clearly, don't slur over it or hide it, but deal with it, you go on to opportunity, that part of crisis that offers seeming endless potential.

I discovered this character when I was studying a counselling theory called "crisis theory", which maintains that, as a person processes an emotional crisis, they have two choices. They can choose old, unsuccessful way of coping with it (in my family that would have been ignoring it or burying it, instead of looking at it, and when it resurfaces, bury it again).

The second choice people have is to look at the danger, study it and get familiar with it, then work out a plan to deal with it. When you first face a crisis, your reaction is, "Oh, my God! This is an impossible situation". But, if you stop and really deal with it, you grow. You become a stronger, more capable person. This new strength opens up all sorts of opportunity for new levels of living.

Crises are our opportunity for character evolution.

I was a pretty strong kid, essentially. Had someone been able to tell me I had a task to handle but help would be available, and they believed I could do it, I would have done it, and I would have faced the rest of my life with a much stronger foundation of self confidence.

It would have been as simple as algebra. I had to take algebra to get into university. I hated it, and I was sure I couldn't do it. Algebra even invaded my sleep and caused nightmares, but my math teacher, who could see I was of at least normal intelligence said, "You can do it - just try - I'll be here when you are really stuck". If he believed I was strong enough to do it, it was sure worth a try. So I tried, and I made it.

I wish my psychiatrist had finally said, "Look, Diane, you have this condition and these are the implications of it. I know this can be a challenge for you, but I am here to help you find ways to handle it. You can do it".

Telling The Truth

So, what can we learn from my algebra teacher? He knew not to underestimate strength. Don't underestimate your patient's strength, even if, like me as a strudent, your patients protest they can't do it.

Parents may protest they can't tell their daughters such terrible news. This objection is part of their grieving. That's all. To see it as any more is to devalue a parent's potential. A daughter with AIS needs her parents there for her. Otherwise, how can she handle the information of her condition if she feels her parents can't. And we know keeping it all a secret from her doesn't work.

No, you have to help the parents stand up, work through their grief and be strong for their daughter. She has no choice. She must carry the condition and find a way of facing it. Parents must not desert her.

Of course, you must be strong, too. If parents get any idea from you that this shakes you, then you are not there for them. You don't have to be a ramrod about it. You can even weep with them if they weep, but at the end you must express your belief that they can handle their task.

I had a friend, one of those people who thought they could counsel without adequate training. In speaking of a client who was suffering lifelong pain, she said, "Thank God that's not me. I couldn't handle it". Her client was not going to receive the support and strengthening belief needed to grow through her crisis of pain. If you can't even try walking in another person's shoes, don't pretend you can help them.

It was my intention to get you all involved in an experiential exercise - putting yourselves in the roles of parent or nurse - walking with each other in these roles to sense the challenges. Unfortunately, time is not going to allow this, but it doesn't mean you can't do it with a colleague at another time.

The Patient Focused Team

I started off this presentation by talking about what doesn't work as you talk with patients and parents about diagnoses of sexual ambiguity. Then we began talking about some things that work. We identified - honesty of information - belief in the strength of your patient.

We need to talk about all the services that can be called upon as your patient and her family adjust to her condition. The list of professionals who may become involved seems almost endless: Gynaecologist, endocrinologist, surgeon, urologist, geneticist and the ancillary services of bio-ethics, social work, psychology, psychiatry, family doctor and family counselor from the patient's home community, and you can come up with more.

If these many services are going to focus on one patient,. they must have a team process. Without a team, the likelihood of a medical Tower of Babel is almost a certainty.

The task of setting up and running such a team with so many players seems just too daunting, until you realize that your computer is going to do it for you.

Prepare yourself, because my message to you is: you must be the team coordinator. However, I'm going to give you a detailed plan of how to do it.

The Team's Tasks

First, though, let's talk about the tasks this team must accomplish. Through this process, the team must:

Know your patient in her uniqueness

The patient must be known as a unique human being. Someone, you or the social worker takes the responsibility to insure this uniqueness is described on the computer complete with all the issues that could effect service. Let me give you a personal example.

When I was 20, I was told by my G.P. that the gynaecologist wanted to see me again. I hated the gynaecologist. He treated me like an object while he flirted with my mother. I wasn't going back to see him. What could he do for me? I wasn't going to menstruate, and I couldn't have children. That was that, so I didn't go. Nobody followed up to see about it. No one knew that I hated the man. Everyone was more concerned about my father whose serious illness dominated the thoughts of our family and our family doctor. As a result, I was about ten years too late in getting hormone replacement therapy, and now, as a result, I'm visited by osteoporosis.

If a team had existed, I would have known what the gynaecologist wanted to see me for. Our family counsellor and/or our family doctor would have known that I never followed up and would have helped me get to that gynaecologist or another one. If I had had a social worker on that team, she or he would know about my negative feelings toward that gynaecologist and helped me find my way around it.

Let's move along with the tasks of the team.

Develop a coordinated plan of service

The team must process data from a multitude of sources and assist each service provider to refine his or her service on the basis of information from all the others and from the patient. The refining of each service provider's plan of intervention is an essential dovetailing activity and the only way to arrive at a single, coordinated plan of service. There is monitoring to insure each service provider moves along the process. Certainly, the nurses job, but it can also be picked up by the patient, the social worker, and the family doctor, just to name a few.

This team process is going to lead to a permanent record of service throughout the patient's life. There is a coordinating role here for the nurse to insure that every action in the process is recorded.

What happens since, as nurse, you are not likely to be in this job for the rest of the patient's life? What happens if an endocrinoligist leaves her practice? It is passed on. You must have this same potential. The task you pass on is an active assignment (probably the most active in the circle). Ensuring the permanency of the role of co-ordinator must be addressed.

Insure the patient is aware of the plan

This is almost automatic, as the patient is assured access to the record, she is able to read all the information, and she is aware of each refinement of her service plan.

Work within patient's pace

Every person handles information and decisions at their own pace. The team must have no time boundaries. Information exists and is added to the record and plans are developed and changed, based on new information. Since this process, the medical record, is developed on a computer, input can occur at any time, thus, there is no time expectation, and the record very much develops at its (and the patient's) own pace.

Insure the availability of therapeutic counselling

We live in a world where almost everyone feels they have some capacity to offer counselling. Not surprisingly really, when the thesaurus gives synonyms for the word "counsel" as advise, exhort, instruct and admonish. We've all known doctors who claim they have counselled patients by giving them facts and telling them what they should think and feel about these facts.

This is not the counselling needed here. Doctors are intensively trained in their speciality. But, in their busy practices, there is rarely time for psychotherapeutic training. There are professionals well-trained in counselling that has psychotherapeutic methodology. In Canada, these tend to come from the fields of psychology, social work and psychiatry. In the US, you can add licensed psychotherapists. These are the people you want.

There are other professionals, nurses among them, who take varied amounts of counselling training and are exposed to psychotherapueutic methodology, i.e. ministers, priests and other clerics, in fact, anyone in the helping professionals might well get some training. Depending on the level of training and amount of "supervised" practice, some can offer effective counselling help. The patient's well being is served best by fully-trained professionals whose main career is focused on psychotherapy.

AIS is a condition that can shake a patient's identity or a parent's comfort deeply. Such emotional assault can cause emotional reactions leading to neurotic adjustments. Effective therapeutic counselling is needed to help parents and adults through this. Back to the Chinese character for crisis - counselling is part of facing "danger".

Follow-up

This may be the team's most important task. You are setting the patient or family on a lifelong process of service. The task begins when the family doctor is brought into the circle and the team building continues as a counsellor is added. Geography does become a factor here, because the patient is going to physically move away from your service, back to her home area. Without continuing to see the service people she has met, she can be tempted to put off moving into new service relationships.

The team must recognize that shock of information can encourage the patient to try to avoid being reminded of the issue. You, as monitor, probably can have the most significant role here. You can make appointments with the local providers and remain in touch with the patient by phone and hear her reactions and encourage her. You can ask the social worker to be involved here. Referrals are challenging to make stick, and doing it effectively is a social work job.

We talked earlier about the type of professional counsellor you and the patient need to locate for ongoing service. This is not always an easy job. However, again, locating resouces is a social work job. Call on them, and if you don't have a social worker available, call on us. We have an amazing network.

Any individual will go through several phases of identity review. A child will do the same but, perhaps, be more challenged through puberty and adolescence. Families must know that these challenges are ahead. They need to establish a strong counselling resource, particularly for these tough times.

Sex and the single woman

This kind of help was not available to me and my family, and how we all suffered. I'm not here to entertain you about my sexual confusions and adventures, but I can tell you I went through three adolecences; as a teen when "the secret" hung heavily over my head and, mixed with teen feelings, had me both deeply frightened and desperate to act on my sexual feelings. But guilt and shame prevailed, and I imposed a chastity upon myself that lasted well past university. My second adolescence came along in my mid 30's when I finally got on hormone replacement therapy (Premarin - my fountain of youth), and I certainly experienced an increase in sexual feelings. Since I suspected there was something wrong with my vagina, I was mortified to think that a sexual partner would reject me, and my naivety that made me think I could actually have intercourse. This I couldn't face. All the old feelings of being a throw-away person returned.

I was approaching middle age when, with a lot of help from Johnny Walker scotch, I finally released myself from my chastity. I turned into a most inappropriate sexual adventurer. Finally, I got myself engaged to a seriously troubled man who was strongly into paranoid schizophrenia. Getting myself out of that got me entertaining ideas of chastity again. Finally, in my late 40's, I awakened to the fact that I am a lesbian, and away I went again - adolescence number 3 - and 10 years of most inappropriate relationships. Luckily, I've calmed down and settled into a mature relationship. But I should have had this decades ago. No one should have to go through 3 adolescent searchings. Everyone deserves essential information and counselling..

Making A Team Work

You are in the best position to make this team happen. As nurses, you are usually the professional with the most contact with any patient. You are also the professional in the centre. The one who has most direct contact with all the available services.

But with the challenge of numbers of people, all with their own tight schedules, different locations, even different towns and cities, we're going to need some new ideas to build this team.

The first step in building a new idea is to use some new words, labels and tools. A new word for an old concept can all at once open minds to new possibilities. Let's discard the many assumptions surrounding the word "team" and replace it with the word "circle". Next, we need to address the label "patient". That label is fraught with assumptions - implications of weakness, incapacity, object and invalid. Now, there's a word - invalid - inVALid. We have to get a new - more appropriate word.

My thesaurus was useless. It was just full of the traditional words. So, "HELP!" We are talking about the team's pivotal person. What do we call this person?

Can anybody give us something? Just shout it out! What words can replace "patient"?

It's hard, isn't it?

Well, I've had more time than you to think about this. "Pivotal person" is a little awkward, even though the meaning is good. The best I could come up with is "consumer". Consumer is, at least, a word that doesn't mean inVALid, weak or incapacitated. Let's go with consumer until a better one comes along?

I also talked about new tools. We are going to replace the static concepts of meeting place, meeting time, travel and the time-consuming activities of telephone messages and face-to-face consults.

Of course, I'm talking about the computer.

There are already "chat circles". We are going to set one up. And, since few of us have much idea of how to do it precisely, we are going to get the computer "techie" who services and troubleshoots our computers. Many of you will have such a genius on site. I've found that these folk love new challenges, so you shouldn't have much trouble involving them. As a further encouragement, you can talk with them about co-authoring an article for their journal and yours, because, when you have this working, it needs to be broadcast so everyone can use the idea.

So, our meeting place is the computer, meeting time is different for every circle participate, geography is replaced with cyberspace, and travel is unnecessary.

This process is a medical record. It happens to be much more available than any traditional record to all who need to consult it and, as a record, can receive the very same protection of confidentiality. Your "techie" will talk about access codes that you make available only to circle members.

Here's a diagram of the (Consumer) Focused Circle:

As you can see, the consumer is at the hub. The service providers, all of them - medical, ancillary, local, hometown - all on the circumference. The spokes are vibrant information processes going both ways between the service provider and the consumer.

The computer is the meeting place and the meeting. It records all service information - consumer's thoughts, reactions and preferences. The computer makes all this information available to each member of the circle. This, then, is very supportive to a process of refinement. Each service provider has all the information to refine his or her service to dovetail with all other services offered. As you can see, the spokes are the vibrant action of the circle supported by the computer - monitored by the nurse and activated by the service providers and the consumer.

Let me give you an example of how service can be dovetailed by the circle process. At one time, I asked a gynaecologist about vaginal extension, encouraged to do so by my psychiatrist. The gynaecologist asked me if I was planning to marry. When I responded in the negative, he said we could talk about it later when I was contemplating marriage. I left embarrassed and dropped the subject. Now, if this had been on my circle file, I would have received a better response, more information, more focused on my unique and very personal issues. Instead, I experienced what I assumed to be a brush off. I was deeply embarrassed (like who isn't embarrased at the gynaecologist's office, and on top of it to be made to feel I shouldn't be thinking about sex outside of marriage). I just dropped the whole thing. I avoided the psychiatrist for a long time, wanting to blame him for my embarrassment, discouragement and real emotional pain. That was the last gynaecologist I ever went to.

We can give better service than this.

Back to our chart. The computer is there for everyone, including the patient, so we never have to worry about uninformed consumers.

The nurse is there close to the consumer, available to help the consumer with anything. The nurse is centrally available to all points of the circle, ready to be monitor, interpreter and troubleshooter.

This circle can be activated as soon as you have the circle program on computer, a consumer, and the first service provider (perhaps the endocrinologist) and you. The circle grows with the addition of new service provider, and the vibrancy of the information radii increases as the membership increases. I expect you would immediately invite the family physician, others - the gynaecologist, the surgeon, the urologist, a social worker and, perhaps your medical ethicist - and the circle continues to grow with any other medical or ancillary service deemed appropriate. Insure a hometown counsellor is found and placed on the team.

At this point, I want to bring you more consumers. I want to tell you about the people with AIS and the parents with AIS children that I have met. We may be rare, but you need to hear who we are and what our concerns are.

The Parents

The first thing parents talked about was the shock they experienced on receiving the diagnosis. They remembered little of what was said by the doctor, then they had to go home, and there was no one to talk to. They tended to try and put it out of their minds. For those who were encouraged to "get counselling", none did.

They talked about the tremendous isolation they felt as their children grew up. They talked about trying to do the right things but having no confidence that what they were doing was right. Each set of parents felt their family doctor was limited in what he or she knew about the condition. No one talked about the family doctor actively looking for answers to their questions. They acted like, after the diagnosis, what else was relevant? They all knew, theoretically, they could go back to the specialist or clinic who first gave the diagnosis, but few did. Those that did, still felt that help was limited and certainly in no way, ongoing.

A serious concern for parents of PAIS children is wondering whether their child's interests and behaviour support the gender decisions made at birth. They wondered if a change of gender assignment would have to be made. They worried about the terrible psychological and surgical implications of these thoughts. By this point, their sense of isolation was so deeply ingrained that they made no attempts to find support or counselling. Some did some private research on their own, but nothing reduced their isolcation and fear for the future.

Adults With AIS

People with AIS all agree that their main anger relates to not having been told the truth about their condition. They all report arriving at a time in their mid to late teens when they experienced a driving need for information. Most ended up alone and frightened in medical libraries. Those who sought out information from medical specialists were faced with obvious obfuscation or downright lies. Example - although this happened at a later age for me, I asked about a gene test that was done on me. The answer - "everything's normal". I guess the specialist excused himself that it, indeed, was normal for an AIS condition, even though he knew in the context, this was a clear lie. I always felt this specialist was a fine, caring man. Certainly, he was an outstanding endocrinologist, Chief of Staff for a large, metropolitan hospital and extensively published. Who wouldn't have faith in him, but the letdown when I realized his dealing of me was dreadful.

Other AIS adults were pretty consistent in reporting relationships with the medical community severely strained when it became obvious that trusted service providers had not been truthful with them.

The second most expressed concern I have heard has been from those who have vaginas too short for comfortable intercourse. The regret about not being able to establish an intimate relationship was deep. Most report extensive periods of depression. None felt that any service provider had come anywhere near understanding the identify challenge and emotional debilitation. Many sought psychotherapeutic counselling but, unfortunately, many years after they first really needed it. Usually, by the time they got to this help, they had spent years of crippling self-doubt and frustration.

I hope you think about the circle and how these people would have received more help, quicker help, and help that felt individualized and caring-based.

The Support Groups

Isolation is a far too common feeling carried, like a shadow, by AIS adults and parents of AIS children. Every one describes meeting another AIS person as lifting of spirits unlike any other. Talk is of lifelong burdens lifted from shoulders, or a sense of rebirth, certainly an enthusiasm for a new way of living. For me, this awakening was the single most important event of my life.

Those of us who have met have organized a network of contact that literally goes around the world.

As a professional, your contacts with AIS people are, of necessity, time limited and generally infrequent leaving vast periods of isolation. Your effective referrals back home to a therapeutic counsellor and the family doctor definitely helps with this sense of isolation. But, let me say this as strongly as possible - nothing is as isolation-overcoming as 1) Meeting other AIS people, and 2) having the opportunity to be in touch with them anytime. The Androgen Insensitivity Syndrome Support Groups are by far way out ahead in overcoming isolation that can, otherwise, haunt a person's ongoing life.

Support groups are available in the USA, Canada, Britain and Australia, and new ones begin every month. Along with support meetings there are quarterly newsletters. In those areas where there are no groups, we will likely be able to find a contact person for anyone who is looking for support. Further, geography and time are no barriers, as we have a chat circle that goes around the world bringing immediate contact with fellow members. Finally we have an excellent website: http://www.aissg.org, and these days, geography and time zones are no barrier. We have a chat circle that circles the world and ignores time zones.

Contact with our group will give an AIS person more leads to information and literature than any one person could imagine. A quarterly newsletter is constantly bringing the newest research results and is full of individual stories and upbeat enthusiams.

The Androgen Insensitivity Syndrome Support Groups hold an enthusiastic welcome for anyone with AIS.


Refs:
(1) CMAJ Feb. 15, 1996 - Medical ethics and truth telling in the case of androgen insensitivity syndrome. A. Natarajan. (See Debates/Discussions for text of the article and the discussions it provoked.)

(2) CMAC June 15, 1996 - Letter to the Editor. A. Natarajan. (See Debates/Discussions for text of the leter and the discussions it provoked.)

(3) Endokrynologia Polska. 44 (2) :175-86,1993.

(4) Unpublished medical report - Wellesley Hospital, Toronto, 1966. R. Volpe

(5) Quattrin, Aronica, Mazur: State University New York School of Medicine, Buffalo, US - "Management of Male Pseudohermaphroditism: A case report spanning twenty-one years. Journal of Pediatric Psychology. Vol 15(6) 699-709, Dec 1990).