CAIS, Negotiating Diagnosis, Hospitals and Desires

L: noi l'abbiamo saputo abbastanza presto perché aveva un'ernia. Allora ci hanno detto di farla operare. Siamo andati in ospedale pensando che sarebbe stata una piccola cosa di due tre giorni. Dopo, quando è tornata dalla sala operatoria, c'ero solamente io, mi ha chiamato il medico e mi ha fatto capire che dovevamo parlare di qualcosa di grave. E mi ha chiesto “Lei sa cos'é l'ermafroditismo?” Io ho detto si, ma non ero sicura che fosse una cosa che esiste veramente o fosse una cosa mitologica. Il medico ha detto “No, no, esiste. E guardi che sua figlia ha questo problema e può darsi che abbiamo sbagliato, che non è una bambina, potrebbe essere che deve cambiare sesso, perché abbiamo trovato dei testicoli. E quindi non abbiamo più operato abbiamo lasciato tutto com'era, bisogna fare le indagini, e così vediamo se è un maschio o una femmina. E da lí é

cominciato tutto. (Mother, AISIA)

The discovery of an inguinal hernia or an inguinal lump are among the most common circumstances that lead to a AIS diagnosis in childhood. In many cases the discovery of a DSD is treated as a medical emergency, while a hernia repair is seen generally as a minor procedure. Twentieth century DSD treatment is riddled with miscommunication, and the diagnosis was often hidden from the patient and even the family. The medicalized language of DSD, as opposed to hermaphrodite, seeks to remedy some of the social anxiety produced by the diagnosis.

The presence of testicular tissue in a girl child can disturb the doctor, who communicates this disturbance to the parents. This is compounded by the fact that many practitioners, despite medical training, are unfamiliar with DSD and the variety of biological material. Description of the various syndromes has found its way into some Italian pediatric textbooks from the late 1990, increasing medical awareness, and providing new pathways for treatment (Bertelloni 2007; Zappulla 2005).

The Italian AIS patient group has a marked dividing line between those diagnosed since 2000 and those before, which rests in the communication of the diagnosis. Trude, diagnosed and operated on in the 1990s describes how she was told about her diagnosis accidentally.

com’è venuto fuori? è venuto fuori che… (ride)… praticamente sono andata all’ufficio del ASL, del mio paese, con la cartella clinica, per richiedere l’esenzione dal ticket. Praticamente per avere farmaci gratis e esame del sangue gratis, e le visite, alcune visite così gratuite…e…quando il dottore…ho visto il dottore e gli ho detto…guarda sono stata operata a 15 anni, ho avuto un tumore all’utero e così via, lui ha guardato la cartella clinica e mi ha detto, ma perché le hanno detto che ha avuto un tumore? E ho detto perché e’ così che mi hanno detto…ma non me lo hanno detto subito, me lo hanno detto a 19 anni perché pensavano che fosse troppo, un colpo troppo forte per me a 15 anni. Fa, “adesso quanti anni ha?” e gli ho detto 25, 24. Fa, “grande abbastanza a sapere che non ha avuto un tumore, e’ un pseudo-ermafrodita”. Così, secco. E io, lo presa bene, nel senso, gli ho riso in faccia, perché comunque avevo gia visto un documentario ero gia informata e…(patient, AISIA) Or misdiagnosis, as the case may be. Terminology is not only an indicator of up-datedness of information, stigmatization and care but also becomes a factor in access to care.

In 1968 Italy reorganized its health and hospital system, creating a form of public health care free to the general public. In 1978 this system was converted to a national health service (the Servizio Sanitario Nazionale, SSN), which is similar to the UK National Health Service (Cosmancini 1994). It is publicly run and funded mostly from taxation: some services require small co-pays, while other services (like emergency care and the primary care physician) are

completely free of charge. Like the UK, there is a small parallel private health care system. Like the UK, in order to regulate a state-run and paid health care system, diseases and syndromes are given codes that outline the type of exams and medicines that will be paid for by the state. There is some degree of regional autonomy, and codes and coverage can vary from region to region. There is currently no code for CAIS in most regions, which means doctors are forced to give the code for either pseudo-hermaphroditism or PAIS in the case of a CAIS diagnosis.

This means, those diagnosed under the older non-disclosure model will not know their diagnosis and either: access hormonal therapy and be erroneously informed that they are a pseudo-hermaphrodite, or not have access to the treatments related to the various interventions they might have had as children. Access to treatment is determined by the coding system which relies on out-dated terminology. The most common interventions they might have had in early age are gonadectomy or vaginal canal replacement surgery.

Informed consent and diagnosis communication are perhaps at the top of the list of the bio- ethical concerns in DSD treatment. As we saw in chapter three, the Money OGR model came to advise not informing the patient and some times even the parents, based on the rationale that this would facilitate not only gender stability but also acceptance of potential difference. Money's team hoped to help parents and patients avoid thinking of themselves or their children as deviant or monsters. The avoidance of stigmatization through non-disclosure, however, is probably only possible in a non-interventionist model. When someone has instead been medicalized in childhood, they already know something is going on, without knowing why there have been so many hospital visits. The onus of silence can weigh heavily in the family. The parent handbook, one of the results of the consensus convention, advises doctors to focus on communication that facilitates acceptance, emphasizing that differences between people is normal, and not treating the syndromes as an emergency.

Parents and older patients indicate that the sensation ‘that something horrible has gone wrong’ was communicated by the medical team. This is combined with a hurried stress to make an (interventionist) decision about treatment.

L:...ti devono scioccare (il genitore), ti fanno venir paura in un modo scioccante. E’ poi ce un totale mancanza di rispetto e discrezione. Ci e’ successo una volta che il dottore e’ uscito nella sala di attesa e’ ha detto: “ chi e’ la madre del intersessuato?” (Mother, AISIA)

The Money model stresses the urgency and the need for early intervention in order to instill mental health, a positive self-esteem and a stable gender identity. However, many later

state they wish the doctor had told them it wasn't a big deal, not life threatening, and that it could be dealt with calmly in time. Many patients indicate the late discovery of their diagnosis, combined with the surgical and/or examination process in early childhood, to be the very source of their emotional issues within the diagnosis.

Anna: ah sì sì.. gliel’ho sempre rinfacciata a mia madre.. ho litigato..ride...fino a ..verso 25, 26 anni litigavo sempre perché.. io sono stata molto male.. non tanto per quello che avevo quanto perché i miei genitori non mi hanno detto niente.. un po’ per come mi ero stata trattata.. per questo.. però adesso.. mia madre un po’ ha capito.. ha cambiato atteggiamento..adesso sono più grande.. e quindi.. abbiamo fatto un po’ pace fra virgolette..

Anna learned about her diagnosis in her twenties, connecting the dots between something she came across in a medical text, her childhood experience, and the hormonal therapy she had taken since her operation, but gaining most of her information from the Internet. Her experience can be seen as a template for many treated and diagnosed into the late 1990s. After a childhood hernia, her mother was informed of the diagnosis. Anna had a second hernia at 17 and at that time they also gave her a gonadectomy and her parents were advised not to tell Anna anything because learning that she had XY chromosomes might make her feel bad or threaten her gender identity.

Unfortunately for Anna, the doctors did not emphasize the side effects of gonadectomies. Gonads produce hormones that are important for many different health systems in the body. It was believed that AIS gonads had a high cancer risk, due to statistical risk found in patients with mixed (mosaic) gonadal material. However, this is not confirmed by scientific research, and often doctors will state that early gonadectomy is generally performed for psycho-social reasons. Anna's parents refused further treatments, and as Anna did not know about her diagnosis, she did not seek any either and went years without natural or artificial hormones.

Anna muses about other family members that she is sure also have AIS, but are older and have never been medically diagnosed. They have never menstruated or had children, they have little body hair, but they have had none of the problems that medicalization assumes one will have with AIS. Many are married and healthy, some well into their 80ies. None of them have had gonadal cancer or marital problems due to vaginal length.

io ho scoperto da mia madre ..che hanno.. ad un anno.. fui operata al ernia.. gli avevano detto che avevo un.. sindrome.. ma mia madre non aveva proprio capito niente.. e neanche loro mi hanno detto niente.. mi hanno detto che in Italia si chiama la sindrome delle belle donne.. non so sei..ride..pero non e' cosi nel mio caso..perché non si viene mai l'acne insomma neanche le rughe in teoria..però mia madre non ha voluto sapere niente.. e poi dopo ho scoperto che nella mia famiglia

che ne sono tantissime..e praticamente.. due sorelle della mia nonna.. eguale hanno questa sindrome.. e tante cugine di mia nonna.. le nonne di miei nonni.. le zie della mia nonna.. le sorelle della nonna.. insomma un po’ tutti.. sono tutte nella zona delle Marche..

Anna suffered various physical and emotional problems until she got a hold of her diagnosis and started searching for a hormone replacement therapy (HRT). She is now involved in an experimental program, establishing through the collaborative work of AISIA, that uses androgens instead of a estrogen/progesterone mix. Finding the right hormonal therapy can be another causality of the health code system, which gives gender to hormones and therefore blocks cross-gender hormone therapy.

Anna suffered from the misinformed medical stigmatization also in her personal life. With the diagnosis finally in the open, she got a full examination and was (mis)informed by the doctor that she could never have a normal sex life, because she had a short vaginal canal, and in fact, he advised that she shouldn't have sex. She was dating someone at the time, and the combined shock of the erroneous information and the stigmatizing attitude of the doctor threw her into depression. Medicalization of the vaginal canal is another aspect we will look at closer later.

Diving deeper into the intricacies of the Money diagnosis and non-disclosure model, we continue to hear similar stories of family rupture and conflict after the diagnosis has come to light. Franco D'Alberton, an Italian DSD team psychologist highlights the importance of full disclosure at the moment of diagnosis and when decisions are being made.

Knowledge about one's medical condition is a basic human right...However, optimal communication about DSD is easier said than done; it demands 'advanced communication skills' from the clinician (Liao et al., 2010). Even then, our restrictive, binary language of sex and gender may render the task too emotionally challenging for some clinicians and parents...Care givers' feelings of safety and integration can positively influence care recipients' sense of safety and capacity for integration...Some say that far from being a risk to their psychic equilibrium, the moment when they were clearly told about their diagnosis was the moment when some of their experiences began to make sense. Full disclosure is most important when it involves people in decision-making, not when 'the die is cast' and a door is closed. Without full disclosure, a person receives surgical procedures performed under a false pretext. To be deceived in this way is to be pulled along the path of rage sorrow and regret (D'Alberton 2010).

Clara since 2007 has been investigating her molecular diagnosis, but she knows that when she was a child, they diagnosed her as PAIS. Her father took everything into his own hands and denied her the truth. Clara was born at home, in Sicily in 1960, and when she was nearly

two, her mother noticed her labia were more united than her sister’s had been, and said something to Clara's father. This began a series of medical visits hidden from the mother, leading to conflicting diagnoses of CAIS or hypospadias, in which the former usually leads to a female gender assignment and the latter to a male. To give the doctors credit, they advised postponing surgical intervention until after puberty. Clara's father instead found a private hospital, and at 11 years old they removed 90 percent of Clara's clitoris and her gonads. She took 7.5 mg a day of estrogen (an extremely high dose) until she was 26 without knowing why.

At 26 she went to a gynecologist because she had never been able to have complete penetrative sex and was told she didn't have a vagina. She called her father who denied everything and then her father in secret asked her doctor to call the gynecologist and lie to her (revealed to her later). After ten years hospital records were destroyed, so there was nowhere to look for them. The doctor at the time suggested vaginoplastic surgery but her father still denied everything. He only answered, “because it was better that way”68_{. Later, a doctor told}

her “you need to find yourself a good widower who already has kids”69_{. Clara states: “In}

Sicily only prostitutes have (sexual) pleasure…and then, a lesbian is the same as a prostitute…bad news…”70_.

After thirty she left Sicily and her life began to change. She had a few more experiences with men, one of whom told her that her vagina was “too tight”. She went to a psychologist who helped her accept the idea that she might be lesbian. And then she went to San Francisco where for the first time in her life she saw what it could be like to be gay without stigmatization and problems, and it all became much easier. She told her mother right away, who was overcome with guilt. Her mother was convinced Clara was lesbian because she was XY, and that Clara had AIS because she and her husband were third cousins.

Unlike the hetero-normative narrative of the otherwise well-written and interesting novel

Middlesex, (Eugenides 2002) which brought Intersex/DSD to the mainstream in 2002, Clara

does not agree with her mother that she is gay because she is XY, and that she would have been happier as a man. The first years after learning about the diagnosis, she fantasized about what it would have been like to be a man. She had always envied the freedom men had in Sicilian society, while women had so many more rules to follow. She had always been

68 _{“perche era meglio cosi”.}

69 _{“devi trovarti un bravo vedovo con gia dei bambini”}

targeted socially for being tall and masculine, some of which seemed to come from her mother’s northern features. Clara, ultimately, is happy as a lesbian woman, socialized as a woman to be sensitive, “convinced that she prefers female sisterhood”71_{. She jokes that being}

a man in Italian society has many privileges that she envies, but that most women would like more freedom and possibilities. Maybe she would have been happy as a man, but she is happier to be the person she is with her complex varied experience.

Clara points out that the medicalization of DSD often denies unproblematic sexuality to both heterosexual and homosexual patients: telling them they are ‘the only ones’, or that there are no solutions, or performing surgeries that remove sensation or make people paranoid about their genitals. She laughs, saying, “It is really hard for me to achieve orgasm” (due to the removal of tissue and scaring), “but at least (other) women are more willing to have patience and have sex longer”. But, one of the worst thing for her was having been told she was one in a million, that there was practically no one else in her position.

Come si permettono a toglierti la speranza? Negandoti l'oppurtunita di informazione e interazione?...Negavano una sessualità affermativa, che ci sono altri, che ci soffre... 72

The last ten years has not just given light to patient groups that socialize information and negotiate medical authority. It has also seen the entrance of a new way of communicating diagnosis. New members of AISIA often have less traumatic stories of family conflict, because they are told right away in less stigmatizing terminology.

Melanie is one of the younger members of AISIA, and she is studying to be doctor in northern Italy. Her experience is similar to Viviana’s from Puglia, however, who was also diagnosed in the last ten years. They both went for gynecological exams, after going through puberty years earlier, without the onset of menstruation. After a series of exams, the CAIS diagnosis was reached and explained as a variation, more common than known. Both were advised to have gonadectomies and counseled on hormone replacement therapy. Both feel protective towards their families, glad they know, but wanting them not to be burdened.

In this case the burden is no longer anger over miscommunication, uninformed surgeries, or stigmatization surrounding gender identity. The burden, which we will deal with in greater depth later, is the inability to become pregnant. Viviana indicates that this is probably the biggest problem for her mother. She told her husband immediately, but she is from a small town, and you don't talk about sex often. Viviana confesses her hormone therapy has never

71 _{“convinta che preferiva la sorellanza femminile”} 72 _{Interview 08/09}

really gone right,73 _{but she hopes the more people talk about AIS and DSD, the less stigma}

there will be, and the more hope there will be for good treatment.

Melanie is not studying a DSD related branch of medicine, but nonetheless is very informed about the details of the syndrome and interested in promoting more detailed research. Her eyes lighted up when she told me about how she found a girl in Canada who had the same genetic marker as she does. When she talks about the discovery of the Y chromosome she says, anyway, “sono la stessa di un mese fa”, she's the same as she was a month ago, the Y chromosome means little to her identity.

This, of course, is true unless you have the bad luck to be diagnosed by a doctor who insists that the Y chromosome means masculinity. Doctors once insisted that telling a woman