“The Royal Society of Medicine and the CAH Support Group jointly organised a meeting which took place on  Monday 12th May 2014, in London. This is an educational day, bringing together everyone who has an interest in CAH, including medical professionals and researchers, advocates, as well as those who live with the condition and their families.”

Leslie J attended this meeting, made detailed notes, and has written the day up:

My impressions of the day.

Leslie J

The conference was organised by the RSM and the UK-based support group LivingwithCAH.com. Despite what they tell you on their banner web page, they are an organisation primarily run for, and on behalf of parents. That needs to be borne in mind as I run through the dayʼs schedule. There were approximately 180 attending, on the day. Most were parents. There was a small contingent of CAH-affected adults – all of us as different from each other as we were from those non-affected delegates (except we were all quite short…), and 5 clinicians in the audience, in addition to those making presentations – my endocrinologist being one of them!

The key to a well run event is a strong chair. It keeps everything on schedule, and instils a degree of discipline into those who making presentations. The day kicked off 40 minutes late, and the consequence of that was that all the delegates/attendees lost their lunch break, and instead we had to grab a drink and nibbles on the run – we got just 20 minutes to mingle and natter about what we had heard. It also led to several presentations being shortened, but more of that later.

First up was Gerry Conway (Clinical lead – Endocrinology, UCLH). Both he, and Charles Buchanan (Consultant Paediatric Endocrinologist, Kings College) spoke about the complexities of our endocrine differences. Charles Buchanan twice said his role was (and this is a direct quote) “to make healthy women”. I queried this statement, asking that surely it was his role (as a paediatric endocrinologist) to ensure we grown up as healthy people – the spectrum variation of CAH was no guarantee that all of us identify as women. Indeed clinicians know that a small, but marked percentage choose to live their lives outside the traditional gender boundaries. His response was that as a paediatric clinician, that wasnʼt his concern he looked after children, not adults.

His presentation was highly gendered, and the expectation projected throughout was that because we have XX chromosomes, and most of us have what is considered a full set of reproductive architecture (often not functioning), then we are NOT intersex and that ”DSD” thing is nothing to do with us. I did warn you …..

Itʼs quite interesting to reflect that CAH clinical protocols still most closely mirror the John Money hypotheses that later became known as ʻgender enforcementʼ and one that most parents are still signed up to. Gerry Conway gave an interesting, and unexpected funny presentation about endocrine management and fertility in CAH women (Iʼm trying to source the slides). It is complex, and not at all easy to manage, and all the data shows that at least 50% of CAHʼers who seek to have a child require assistance. Note thatʼs the data of the CAHʼers that medics know about. It isnʼt inclusive of all CAHʼers. All the clinicians present on the day acknowledged that many of us try to have as little to do with medics as it is possible to arrange whilst still living with a chronic, lifelong, and potentially life threatening endocrine dysfunction.

CAHʼers live with higher blood-testosterone (blood-T) levels that non affected XX females, even with medication. Thatʼs just the way it goes. This has a deleterious affect on our potential fertility. Many, if not all of us have polycistic ovaries – as indeed do many women without CAH. However, the higher blood-T levels has two other effects: it ensures that Progesterone is over expressed meaning a womb lining doesnʼt develop well prior to menstruation, and it also induces anovulation – that is, a menstrual cycle wherein the ovaries do not release an egg.

UCLH seem to have developed a complex methodology comprising altering medication management, and close monitoring of blood-T/progesterone levels that have enabled 21 of the 25 who have undergone this intensive monitoring to have a child. That is over a 15 year time span. So we are talking about extraordinarily intense medical management, benefitting a small number of people. It remains acknowledged that many CAHʼers do not have children, or do not want to undergo this intensity of medical scrutiny – Gerry Conway talked about 98 who had attended the clinic, but had then chosen not to proceed.

CAHʼers who do become pregnant have to face the likelihood of undergoing a caesarian section to deliver a child, because genital surgeries do not allow for, or enable childbirth in the usual way.

Fertility remains very complex issue in a CAHʼers life. Despite all the declarations of our being XX females, and having a full set of reproductive architecture, the reality is that medics still struggle to resolve the complex contradictions of our physiology in a way that justifies their simplistic explanations to parents during paediatric years.

Which brings me to Charles Buchanan, and the knotty issue of pre-natal dexamethasone. It was the major subject that dropped off the list as a result of the late running order. So I asked some questions. This one to start with:

“Sweden has stopped using pre-natal DEX (PREDEX) as a treatment value for CAH citing concerns about the long-term development issues. Is there a long-term study monitoring ALL those exposed to this very powerful corticosteroid in the UK?”

(There isnʼt, but parents donʼt seem to know this, and the way Charles Buchanan answered was interesting).

Charles Buchanan started out by trying to rubbish the Swedish report, citing the fact that they had just 15 individuals in their initial study. When I pointed out that the Heino Meyer-Bahlberg/Maria New study that clinicians use in when favouring PND had only 16 individuals in their study, from a reservoir of over 800 treated so far, he then latched onto the newly published French papers (2 retrospective papers that only look at CAH females exposed to pre-natal DEX – not the other 8x males and/or non-CAH females also exposed) and pointed out that the French were now initiating a long-term (retrospective) study to ascertain the safe use of PND.

There used to be a co-ordinated European-wide study into the use and outcomes of PND, called PREDEX. That fell by the wayside when the Swedes withdrew from the group: they were the central co-ordinator. The UK were members via Great Ormond Street Hospital. There is, as yet, no UK participation in the newly minted French study. Charles Buchanan also confirmed that the only follow up that those exposed to PND receive is on an individual basis (no funding for a study), there is no mechanism in place for disclosure to those who were treated. Charles Buchanan, for one, has no interest in what happens to non-CAH females, or males who have been exposed to PND, and said so.

It is a disaster in the making, and the clinicians havenʼt got a clue where most of these people are, or what is happening to them. Itʼs appalling. You could hear a pin drop whilst this dialogue batted to and fro. Parents use it and believe it to be safe. Theyʼre are not being told anything like the full story.

The CAH support group booklet has this to say about predex. I reproduce in full:

“Can CAH be detected in the unborn baby, and can this be treated before birth?

Yes. during the pregnancy the patient with CAH continues to take the hydrocortisone as before. this hormone passes across to the unborn baby and automatically corrects any fault if baby has inherited CAH. During the pregnancy the dose of hydrocortisone will be monitored by measuring another hormone called androstenedione as 17 hydroxyprogesterone is always elevated in pregnant women and cannot be used to monitor CAH.

However, if you are the parent with CAH you no doubt want to be sure that if the unborn baby has inherited CAH then it is treated before birth. This is done by testing the unborn baby for CAH by taking a sample of tissue from the neck of the womb (chronic villus sampling) or amniotic fluid early on in the pregnancy. This is then genetically tested to see if the unborn baby has CAH and also determine itʼs sex. Of course, the doctors do not know the answer ʻtill nearly 14 weeks of the pregnancy so it is likely that they will ask you to take dexamethasone until the answer is known. If the unborn baby does not have CAH, or is a carrier, but is unaffected, then the DEX will be stopped, and all will be well.

However, if the unborn baby has CAH and is a girl, the the DEX will be continued ʻtill baby is born. This is “essential” (my emphasis) in unborn girls to prevent a build up of androgen turning their genitalia into that resembling boys. If the unborn baby is a boy, then the specialist may advise stopping the motherʼs dex as excessive male productions in the unborn child causes no problem. Of, course babies will need treatment after birth”.

And THAT folks, is the quality of the information imparted by the CAH Support Group to parents. Quite apart from the baby-speak, itʼs quite difficult to know where to start, but suffice to say I have written to the admin. of this group pointing out a number of glaring errors, and the plain old misinformation there, as well.

Hydrocortisone CANNOT cross the placenta barrier. Most mothers do NOT have CAH, so the garbled information about taking hydro is a nonsense. (and directly contradicted by Gerry Conwayʼs presentation during the day). The attempt to explain why predex is administered, what it does, and the fact that it is ELECTIVE, NOT essential, is also something I have raised in my correspondence. I will let you know what, if anything I hear in reply.

And so on to Julie Alderson (Paediatric Clinical Psychologist, Bristol). Clinicians are very well aware that many of us born with difference do not go anywhere near medics as soon as we have the freedom to escape their clutches. All the affected adults at this conference spoke of their discomfiture and unhappiness at “being paraded” in front of anonymous groups of medical students and the like (something I have seared into my memory banks). What was disturbing was that this still goes on as often as it does, despite claims that this practice had ceased, or diminished. Julie Alderson spoke of various techniques that have developed to forge links between paediatric clinics and adult clinics. And illustrated it with a 1930ʼs postcard illustrating a debutantʼs ball, titled “The Coming Out Party”:

Some (parents) in the audience seethed, whereas others, like me, just laughed. Julie Alderson was at first bemused, and then embarrassed, because someone pointed out that in 2014, ʻComing Outʼ had nothing to do with debutantes these days, and it sat quite oddly after hearing Charles Buchanan talk about “making young women”. Another asked, was Julie Alderson suggesting that clinical thinking was totally focussed on “making” women (it is) rather than ensuring healthy adults who are comfortable in their own skin? She rather stumbled to answer that question.

I do wonder about clinicians who claim they seek to emphasise the importance of patient centred dialogue, and fall at the first hurdle because they donʼt look outside the narrow focus of their own particular specialty, and their understanding of language. There were some parents in the audience who bridled at the continued used of the word “transition” when describing the transfer between paediatric and adult clinics. Itʼs perfectly understandable in a clinical context, but “transition” also means something specific in the wider world. CAH parents (maybe all parents with children born with difference) are super sensitive to any allusion to sexuality, gender identity, gender expression, and any hint of alternatives to the binary orthodoxies they are assured that clinical management will produce. They really, really donʼt want to hear it. Itʼs a fundamental dishonesty at the core of all clinical management, but perhaps more apparent with CAH, that people grow up with an understanding of themselves that spans the spectrum of gender expression and sexuality, just as non-affected folk do. Itʼs a conversation that nobody is prepared to engage with, and if anything, it is actively avoided. The tension in the room was something you could cut with a knife at times.

And so to Sarah Creighton.

The only presentation heard in complete silence. Sarah Creighton presented both points of view without expressing their own opinion: the ʻtraditionalʼ case that many still hold to for surgical interventions, and then the alternate view that included surgery as and when the individual requests it, NOT performing clitoral surgery at all, because thereʼs is absolutely no clinical need, rather it is social discomfiture that dictates it, and that there is no such thing as a single surgical procedure. Sarah Creighton also posed questions about the judgement of paediatric surgeons claims that these procedures are “easier” in infancy, and their off-hand use of the phrase ”revision” for what often entails major surgical intervention, often in an attempt to repair earlier procedures.

A parent chimed in to say they had been told that their daughterʼs surgery in their 1st years was all they needed, and they (the child) would grow up the same as those who had not had surgery. To which Sarah Creighton simply said “No”.

She outlined the various issues regarding scarring, stenosis, repeat surgeries actually making things worse (tell me about it), and the issues surrounding consent – who gives it, and why.

Sarah Creighton’s presentation was a masterclass in precisely modulated neutrality.

Despite that nobody in the room was in any doubt that Sarah Creighton was posing some deeply troublesome questions for the paediatricians and the parents in the room. She pointed out that UCLH was an adult clinic, but that the psychologists in the MDT had an overflowing list of adults (not all CAHʼers) struggling with the issues raised by early years surgical intervention. Interestingly, there was a Great Ormond Street representative in the audience, a clinical nurse who was also involved in a GOSH-run CAH support group. They didnʼt say a word.

There were a couple of other presentations, both were highly technical: one focussed on male fertility issues. Males with CAH is interesting. They are not, by definition born with difference. CAH dysfunction is still an endocrine condition that leads to the raised levels of blood-T, except that nobody minds, because, as someone put it – “boys are boys, so it doesnʼt matter” … except it lead to infertility. So it kinda does matter, actually.

On a personal note, I find these events very stressful.

The more so when there are so many parents who are wary of an advocate in their midst. Itʼs a crying shame the refectory breaks were so curtailed, because thatʼs was where I had interesting conversations with parents, and clinicians about clinical interventions toward those of us born with difference, and the orthodoxies that motivate them. Parents know about our advocacy, and what we say. They read it all. Some are aware of the human rights campaign gathering pace concerning our situation.

It seemed obvious to me, at least, that parents remain over-awed by clinical authority, and a lot of clinicians like it that way. Parents still hold to the belief that “things are better now, than in your day” . Well, possibly so, but as SC point out elsewhere, that still relies on waiting for 10-15 years, by which time those interventions will themselves be rubbished by a newer generation of parents determined to believe their child wonʼt endure the struggles of previous generations. It also does nothing to address who decides what interventions we undergo. Our consent remains anathema to parents. Parents remain beholden to the medical model, and I suspect that is borne out of fear, and clinicians who speak of interventions as providing “normality”. It is an orthodoxy that was forged in an era that declared that we should not be told about our differences, and interventions should take place before we have a conscious understanding of our differences. Quite what sort of “normality” a scalpel provides was critiqued by Sarah Creighton, and it didnʼt fare well.

CAH is something of a cinderella when discussions turn to intersex issues, yet the surgical interventions enacted on us remain the bedrock of ALL orthodox clinical interventions. It is long overdue that parents, and medics alike acknowledge the spectrum nature of our differences. Interventions still remain tailored to highly gendered attitudes for outcome goals. Outcomes that were described over 50 years ago by Lawson Wilkins. For XX CAHʼers those goals are height, and fertility. Surgeries do nothing to enhance either of those outcomes, but are STILL done as a reinforcement designed to ensure we identify as female. Parents appear to accede to surgeries despite being repeatedly told that they are both un-necessary, and compromise sexual response in adult life. Many parents appear, to my eye at least, in complete denial.

Itʼs long overdue that parents, clinicians, and affected adults engaged in an open dialogue about what WE want, rather than what we, and our parents, are told is in our best interests. What we want will vary wildly, as befits a spectrum condition. If clinicians are genuine about seeking patient-centred outcomes (and Iʼm yet to be convinced of that) then that conversation needs to be had, for the benefit of all of us: parents, affected individuals and clinicians alike.

LJ 2014