Growth Hormone and Creutzfeldt-Jakob Disease

It's National Pituitary Awareness Month, and I thought I should look for an interesting pituitary-related story to tell you all. As it turned out, I didn't have to look too far.

 Most people living in Britain today will remember the 1996 scare about "mad cow disease" or BSE (in cows the disease is called Bovine Spongiform Encephalopathy; when it's passed to humans it's variant Creutzfeldt-Jakob Disease or vCJD). It’s an extremely nasty degenerative brain disease, invariably fatal, and there was huge concern that beef contaminated with the disease had been in the food chain for some time. The illness can have a latency period of up to ten years before symptoms appear (or much, much longer according to some researchers), making it very difficult to trace the cause of the illness - and meaning that no-one has any definite idea how many people could have been infected. As of October 2009, there had been 166 identified cases of the illness in the UK.

Beware! This could be a mad cow.

It was a huge scandal in the UK, and I remember as a child being disappointed that I wasn't allowed to eat roast beef for what felt like a very long time - although admittedly this was less because I loved roast beef and more because I loved the accompanying Yorkshire pudding my mum served with it. But until recently I was not aware of a similar, albeit smaller-scale scandal that had occurred several years earlier.

Between 1963 and 1985, the US Government funded a programme which provided human growth hormone to children across the US who had failed to grow as expected. Failure to grow in children is sometimes due to a deficiency in growth hormone (surprise!) and this is still a treatment for children today; the difference is that these days it's made in a lab, while at that time it was extracted directly from the pituitary glands of human cadavers.

In 1985, it came to light that three of the people treated with human growth hormone (hGH) had gone on to die of Creutzfeldt-Jakob Disease. This is not the same illness as vCJD but it is similar - and it's very, very rare. The programme was stopped immediately and an investigation launched.

To date, 29 of the people treated with hGH in the US before 1977 have been diagnosed with CJD. That's about one in 95. The rates were much higher in some other countries; in the UK, which produced its own hGH, 64 of the 1849 people treated developed CJD; and in France, which also produced its own hGH, 119 out of 1700 patients went on to develop the disease. There have been cases reported in numerous other countries; the variation in incidence is likely due to the variation in the way the hormone was extracted and processed.

 The longest latency period recorded between someone receiving human Growth Hormone and going on to develop CJD is 38 years. The shortest period before developing symptoms with these kind of diseases is usually around 2 - 3 years. The symptoms progress very quickly, within just a few months, from dizziness, difficulty balancing and clumsiness to memory loss, seizures and death.

Most disturbingly of all, however, it later came to light that far more of the patients who had been treated with hGH went on to die of adrenal crisis - an entirely treatable problem - than of CJD. This problem isn't caused by the hGH treatment, it's simply the case that people with a growth hormone deficiency are more likely to also be deficient in other pituitary hormones, such as ACTH. Without sufficient ACTH, you will die - but safe and effective hormone replacement is available for people whose bodies don't produce enough ACTH. It's simply that their doctors failed to pick up on the fact that these people were ACTH-deficient until it was too late.

An Open-Source Cure?

Kudos to my lovely boyfriend for this very interesting link to a website created by an Italian man with brain cancer, who requested copies of his medical files from his hospital  in order to send to other hospitals and doctors for their opinions, only to find that they were in proprietary formats which he could not open on his computer. Being computer savvy, he managed to convert them into open formats so that he can share his information with everyone, online. And he's posted them on his website.

It might sound weird, this idea of posting medical records online, when these are documents that we're used to treating with the utmost confidentiality, but already he has had responses from doctors - and the idea is that everyone is encouraged to use the data to create a cure, whether that's a doctor suggesting treatment, an artist creating artworks, videos, poems... you name it. Other people with similar conditions can send in their own data, if they wish, to be added to the site.

The author of the website had some very interesting thoughts about how the way in which his data is treated parallels the way in which his disease has been treated:

"The data formats which I was "forced" to hack is in a peculiar state of harmony with the common definition of "disease/illness".

The definition of "diseases" is "reserved" to doctors. Often using words which we don't understand and, most important of all, touching only a part of the human condition, which is made from body, but also of spirit and sociality.

The DICOM format is open, yes, but in a very "peculiar" condition of openness: it is like the openness of the words which they use to tell you about your health condition, and with which they descrive and actuate their version of the "cure": you can't understand it, you can't reuse it, you can't combine it with other possibilities. It is thought for "experts" and "professionals" (of one single type), leaving little space for other possibilites for expression and socialization."

It's interesting to consider the possibility that the sacred doctrine of doctor-patient confidentiality may, in some cases, end up mitigating against patients having the ability to take charge of their own healthcare, or seek the widest possible range of medical opinions on their condition. Now that so many hospital systems and even procedures are digitised, there's clearly a balance to be struck between protecting patients' private information, and making it so inacessible that patients are unable to view their own data.

Historically, medical education and knowledge has been very much the preserve of the privileged few, and patients weren't necessarily expected to understand their own conditions. With the rise of the internet, it's so much easier for patients to be informed about their own illness - some might say too easy - and thus it seems terribly ironic that the same medium enabling greater patient choice and freedom should simultaneously be creating new and unwelcome restrictions on their ability to use their own data in whatever way they desire.

Posting your medical records on the internet for all to see may not be everyone's cup of tea. But it should still be an option if that's what you want to do.

Check it out: http://artisopensource.net/cure/

The Sound of Striped Hooves

Around a year or so ago, an interesting thing happened to me. I was in the car with my mother, we were driving down the motorway, and there was a car pulling a horsebox in front of us. We were going rather faster than the horsebox, and as we passed it, I looked inside and saw… a zebra. It was only a glimpse and it confused the hell out of me for a moment, but I am still sure it was a zebra, not a horse, inside that horsebox.* At first I was slightly worried I might be going mad, but my mother pointed out that there are plenty of zoos and animal parks around the place and presumably they must transport their zebras somehow.

Folk of a medical persuasion will probably see where I am going with this, but I promise it is an entirely true story, the proof of which is that it took months and months for it to occur to me that I could use it on this blog. What can I say? I am slow.

Healthy people are probably wondering why I am blathering about hoofed african mammals instead of my usual cheery chat about tumours, but fret not. All shall be revealed.

A zebra is, as Wikipedia (and, I believe, Scrubs) so nobly tells us, the medical term for a surprising diagnosis, which rather begs the question of what we should call those stripey ponies running around in nature documentaries. It comes from the aphorism that when you hear hoofbeats behind you, you don't expect to see a zebra. This is a wise observation which is totally inapplicable to anyone who lives in the African plains, but as it was coined by an American doctor in the 1940s, this oversight may perhaps be forgiven. The point is that when a doctor is presented with a set of symptoms which may be caused by a common illness or an uncommon one, the logical assumption should be that the patient most likely has the more common illness - even though there may be a temptation to go with the more dramatic diagnosis.

I have noticed this idea of being a medical zebra popping up in a few blogs by other people with rare pituitary tumours, particularly in those with Cushing's disease - possibly this is related to the fact that one of the symptoms of Cushing's is the development of dramatic stretchmarks of a stripey and thus zebra-like nature. A few further examples - here, here and here.

A group of Cushing's sufferers at a recent conference.

I guess I count as a medical zebra myself; my symptoms of hyperthyroidism such as tachycardia, hair loss and frenzied blogging** would normally be considered as indicating Graves disease or something - and even when the more common thyroid malfunctions were ruled out, it was considered more likely that I had a condition called Resistance to Thyroid Hormone than thyrotropinoma. But no, my body had picked the most unusual way it could think of to break down, and I was neither a horse, nor a pony, deer, mule, donkey, nor any one of a number of hoofed creatures which are more common in the UK than zebras.

Neighbours of Lord Rothschild may not only have expected to see zebras when they heard the sound of hoofbeats, but also had to leap out of their way.

Medical zebras are a tricky subject, on the whole, and there's obviously a balance to be struck. While it can be frustrating for those of us with unusual conditions to think that we waited a long time for a diagnosis, it would be far worse if doctors went around ignoring common diagnoses in favour of the weird ones. Equally though, doctors should be aware that just because something's weird and unusual doesn't mean it's not sitting in front of you - as anyone who's come face-to-face with Boris Johnson could tell you.

It's enough to make you wonder how rare your condition would have to be before you were considered a medical okapi...

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*Unless someone had painted a horse to look like a zebra. Which would be a pretty weird thing to do.

**Hint: one of these is not actually a symptom.

Girl with Acromegaly Sues NHS

A story broke some time ago about a young lady with acromegaly who sued the NHS, and won. I've been meaning to write about her for a while but I wanted to take the time to create an interesting and informative post contrasting her case with that of Kane Gorny. Alas, I have not had the time, so you'll just have to deal with a dull and uninformative post instead. Hurrah!

The story is this: Kate Woodward, an aspiring actress, developed acromegaly (i.e. a pituitary tumour secreting growth hormone, which lead to uncontrolled growth of her body) as a child, which went untreated between 2001 and 2005 as medics failed to spot the condition. She attained a final height of 6'5" aged 20, and sued the NHS for £2 million. She was awarded compensation of £1.3m.

Incidentally, the award for "least sensitive headline about this story" goes to Healthcare Today UK, which went with "Freak Growth Woman Sues NHS".*

Nice.

Her case for being awarded this level of compensation was that, as a result of her condition being untreated for so long:

- Her height and "ugliness" meant that she could no longer go into a career as an actress.
- She has psychological difficulties and feels like a "freak" because of her condition.
- She has significant problems with her bones, knees and teeth, and cannot buy normal-sized clothes.
- The condition affected her childhood, schooling and friendships.

And, most significantly:

- She wishes to receive all future treatment in the private sector.

Now, not long after this story was first brought to my attention (by a colleague, thank you!) I noticed that it had also popped up as a topic of discussion on the Pituitary Foundation's forum. For those of you who don't subscribe, one member created a poll entited something like "Should Kate Woodward be ashamed of herself?" The results of the poll were overwhelmingly that she should (although in fairness by "overwhelmingly", I mean "there were four votes in total").

Why the anger? Surely she has a fairly good case, right? Undoubtedly, when a doctor is presented with a girl who measured 5'9" at just eleven years old and keeps growing, you'd hope that it wouldn't take four years to just Google it and think "hmm, maybe we should rule out acromegaly". Although we can't know that faster treatment would have effected a cure, it might have controlled or reduced the symptoms. She will have to live with injections and monitoring and joint problems and feeling self-conscious for her whole life.

BUT.

The problem is that this is not, actually, an unusual case - at least, not within the magical world of pituitary tumours. If every person with acromegaly decided to sue the NHS for delayed diagnosis, it would be one hell of a bonus day for lawyers. If you threw in people with other often-missed pituitary conditions like Cushing's Disease and TSHoma, it would probably result in a sudden UK lawyer shortage as they all retired to small Caribbean islands. If you based the level of compensation awarded on the number of years the condition went undiagnosed, the small Caribbean islands would probably reinvent themselves as world financial hubs.

I exagerate. But the mean length of time from onset of symptoms to diagnosis of acromegaly is, according to this MedScape article, around 12 years. Even if that estimate is too high, the point is that pituitary tumour conditions can be hard to diagnose, and they are often missed because they're rare enough that doctors don't see them often, and often don't expect to see them either. Four years to diagnose a patient with acromegaly is, sadly, not uncommon. I first showed symptoms of my TSH-secreting pituitary tumour aged 17, and I didn't get a diagnosis until I was 22. (In case you're bad at maths, that's five years). Even after my superfast heartrate made it clear that Something Was Wrong, it took a year to work out what that something was.

So if there's a slight lack of sympathy from other acromegalomaniacs,** it could be because they're thinking "Damn, £2m! Wish I'd thought of that."

 But I doubt it.  And I'm not just saying that because they're bigger than me.***

Now I want to note right off the bat that where there is evidence of medical negligence or it takes a long time to get a diagnosis, you should complain. Vociferously. You should complain in the hope that procedures can be improved. Otherwise there's nothing to stop future patients from suffering through the same tortuous process to find out what's wrong with them. But there's a difference between seeing a problem, taking a complaint as far as necessary to fix that problem for future patients, and just suing to get as much as you can out of them. Through the normal complaints process, the hospital in question offered Miss Woodward compensation of £700k, no court appearance required. If she lives to the age of 90, that would be £10,000 medical expenses covered every year. Additionally, according to the Daily Mail, which I personally take with a pinch of salt and under the supervision of a doctor, the hospital trust had already spent £288,000 on Miss Woodward for "treatment, dental care, holidays and special footwear".

Even the £500k difference between what she was offered and what the court awarded is a big chunk of money. £500k that could have gone towards treating other patients. I need somatostatin analogue injections (probably much like those Miss Woodward takes), and if you've been reading this blog lately, you'll know that it is proving slightly tricky to persuade someone to fund them. £500k could pay for 666-and-a-bit doses of those injections. Which doesn't sound like that much, until you realise that each dose lasts for a month, so £500k worth of injections would last me for fifty-five years. And six months. Assuming I needed them continuously. And of course by that point I would be 79-and-a-half, so chances are I could be dead by then anyway.

 And here's the thing. If the NHS messes up and, as a result, you end up incurring further costs in your daily life (eg. you're a professional tap dancer going into hospital for an appendectomy, and you wake up with a leg missing) then yep, you should get compensation and if they won't agree to pay it, sue them with my blessing and encouragement. If the clinical negligence of your child at birth leads to brain damage which will affect that child for their entire life, then sue for the money needed to support them. And if/when the NHS messes up so badly that it becomes a danger to other patients, and you follow through that complaints process and nothing changes, sue them until they sit up and pay attention and mend their ways.

 But I am somewhat uncomfortable with suing the NHS for the loss of a career that did not yet exist, and for the costs of having exactly the same treatment as the NHS provides, but done privately. (I'm also intrigued by the concept, since she presumably did not have private health insurance before diagnosis and consequently insurers would be unlikely to cover her pre-existing condition?).  I've had an MRI scan done by a private provider and done by the NHS and the experience was almost exactly the same - except the private hospital was a lot harder to get to on public transport.

I guess in some way I think that when the NHS messes up, part of the compensation is the NHS. The very fact that you live in a country where you don't have to worry about the cost of healthcare means that when the NHS makes a mistake, it - not you - ends up bearing any increased costs of your care as a result of its mistake. Perhaps in some countries when a patient gets a hospital-acquired infection, their bill from the hospital is increased - but in the UK, if a hospital gives you an infection, it has to foot the bill to try and fix it.

But it also means that when you sue an NHS hospital in the UK, you're not taking lobster off the table of a fat cat investor (well... not yet... comments about Mr Lansley on a postcard, please). You are taking money away from that hospital. Any sensible hospital trust will have a big old stash of contingency fund to cover the cost of lawsuits, but I still confess I'm uncomfortable with the idea of suing the NHS for anything less than an ironclad reason, because that money could be put to better use. It could be used to help treat someone just like you.

I don't think Kate Woodward is a bad person, and I don't think she should be ashamed of herself. I simply don't have sufficient details to form an opinion on this case, and she may well be entirely justified. But she sparks off an interesting debate. That's my opinion. What's yours?

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*I noticed Jon Danzig, a journalist with acromegaly, took them to task for this in the comments section of the article, good on him!

** I don't know what the collective noun for "a group of people with acromegaly" is, but it should really be this.

***Common misconception: people with acromegaly only become very tall if the condition develops during childhood/adolescence. If it develops in adulthood, it will lead to bone and soft tissue growth but usually won't increase height much, if at all.

Human Guinea Pig: Part 7 - How To Get Over Your Fear Of Needles

Holy lord! Who would have thought, when I agreed to go into hospital for all this testing, that the experience would prove to be such a rich vein of blog posts?

Anyway! This is the sixth part of the story about my overnight stay in the hospital's research department, having lots of tests to look at the effect my pituitary tumour is having on my body and metabolism. Here are links to: part one, part two, part three, parts four, five and six!

A Whole Lot of Blood Tests

After my GEM ventilated hood calorimetry test was over, and the strange astronaut hood was removed from my person, you might be imagining they'd let me have breakfast. If so, you are imagining wrong. Please stop.

No, it was time for my blood glucose testing! And so I was presented with this:

Yay, breakfast

No, it's not a refreshing beer: it's a pint of Lucozade. At nine in the morning. And I had to drink it all within five minutes.

Basically the idea is that, having eaten/drunk nothing but air for twelve hours, they present you with a massive sugary drink and then do a bunch of blood tests over the next two hours to see how well your body deals with it. I'll be interested to find out the results of this, as I'm pretty sure my body isn't great at coping with sugar; sometimes eating sugary things really noticeably raises my heartrate - and especially when I'm on my lanreotide injections, I have to try to be really careful about eating regularly, and carry around a packet of Starburst (or similar sugary hit) because occassionally I go hypoglycaemic at unexpected moments. Lanreotide messes around with your insulin and glucagon levels, meaning that it can confusingly cause both high and low blood sugar, and it sure is annoying.

I looked it up, and it turns out Lucozade was originally conceived as an Irish health drink and called Glucozade! Who knew! Between that and Guinness, it seems my ancestors had some peculiar ideas about what was "healthy". It also turns out that Lucozade contains 85g of sugar per 500ml, which is almost all of a woman's daily allowance. Holy crap! You can see why they chose it for my morning tipple.

While I was distracted trying to gulp down the hideous stuff, the sneaky nurses set up the trolley ready for my blood tests. Having finally finished all my Lucozade, I turned around to see this:

Oh, dear lord.

Yep. All those tubes were for me. I got to have twenty-three bloods taken in total - lucky me!

First they put an IV cannula into my arm - basically it's a giant needle that stays in your vein and they can attach tubes and things to so that they don't have to re-stab your arm every time they take another blood. They took about 16 of the bloods immediately, and then I had the rest over the next two hours. I still can't really bring myself to look at cannulas in my arm due to being a wuss, so one of the nurses very kindly bandaged it up for me.

Safely hidden away!

The nurses and my endocrinologist formed a sort of production line around my arm for the first sixteen, with one nurse preparing the tubes, Dr Olive taking the blood, and the other nurse stacking them up (some had to go straight into a bucket of ice; some had to be left to clot).

Once they've finished taking one lot of bloods via a cannula, the tube is flushed out with saline solution (i.e. they effectively inject saline into the tube). This clears the blood out of the tube, preventing it from clotting and blocking the tube in-between blood tests. Of course, then the next time they come to take blood, this means that they get half a tube of saline back before the blood starts coming through properly, which is of no use to anybody. Because of this, before taking further bloods, they take an extra tube which comes out as a mix of the saline & blood, then continue with the tests - and then sometimes (if you're having a lot of bloods taken, like me) they'll re-inject the blood and saline, to minimise blood loss.

I've never written the word "blood" so much in my life as I just did in that last paragraph, but I promise I'm not just trying to gross you out; there's an interesting fact coming up. Before re-injecting the blood & saline, I was asked if I was ok with it. I was very much ok with it, because sometimes having lots of blood taken gives me a Funny Turn (in this case I was fine, probably thanks to the pint of Lucozade) and thus I like to hang on to the stuff. Turns out they always have to ask before re-injecting the blood, in case you're a Jehovah's Witness.

I have long been aware that Jehovah's Witnesses are against blood transfusions, but I'd always assumed that this was due to believing that it was wrong to have someone else's blood put into your body; I hadn't appreciated that in fact the problem is with any blood that has left the body at all, even your own. According to Wikipedia, for Jehovah's Witnesses "Blood represents life and is sacred to God. It is reserved for only one special use, the atonement for sins. When a Christian abstains from blood, they are in effect expressing faith that only the shed blood of Jesus Christ can truly redeem them and save their life".

My Lucozade & Blood Tests Experience:

Hassle: 4/5
Fun: 1/5 (It would have been a zero, but I learned an interesting fact!)
Weirdness: 2/5
Results: 2/5
Total Score: 9/20

IMFW: Brain Injuries in Sport

An interesting story that has been popping up now and again for the last few months concerns brain injuries in the US NFL (National [American] Football League), so that's what we're focusing on in this week's Interesting Medical Fact of the Week.

American Football is obviously a high-contact sport, hence the crazy amounts of protective gear the players wear - including helmets. However, evidence has been mounting for some time that all this protective gear may not be enough.

Several high-profile former players have killed themselves in the last few years. Dave Duerson committed suicide in February 2011, after texting his family to request that his brain be donated to the NFL's "brain bank" - namely, the Centre for the Study of Traumatic Encephalopathy, which was set up by former athletes to investigate the long-term effects of the concussions suffered by sportspeople and military personnel.

The Centre focuses on studying chronic traumatic encephalopathy (CTE), which is a progressive, degenerative disease of the brain. As early as the 1920s, there was recognition that this condition particularly affected boxers, but it now appears that it is also associated with repeated brain trauma (i.e. concussions or other head injury). Professional American football players, ice hockey players and those involved in sports such as wrestling, are particularly likely to sustain these kinds of injuries.

Chronic traumatic encephalopathy is a nasty illness. Much like Alzheimer's Disease, it involves the build-up of tau proteins in the brain, and the initial symptoms of memory loss, confusion, depression, and self-control problems eventually lead to full-blown progressive dementia with some symptoms of Parkinson's Disease.

When Duerson's brain was studied, researchers found that the repeated trauma to his head during his professional career appeared to have caused severe damage. One of the difficulties with chronic traumatic encephalopathy is that there can be a significant latency period between the original injuries and the appearance of recognisable symptoms; however, along with Duerson, many other former NFL players - and those involved in other high-contact sports - have been diagnosed with chronic traumatic encephalopathy after their deaths. Chris Henry, another American football player who died after falling from a moving vehicle, was the first player to be posthumously diagnosed with CTE while still active as a professional sportsman; but the earliest signs of the disease have even been found in the brain of an 18-year-old student athlete.

As well as Duerson, former professional footballers Junior Seau and Ray Easterling also recently committed suicide. Along with several other American football players, Easterling was involved in a class action lawsuit against the NFL over its handling of concussion-related injuries, which alleges that the NFL continuously denied any knowledge of a connection between NFL players sustaining repeated head injuries and the later development of dementia or CTE. In addition to this, another lawsuit was recently launched on behalf of over 100 former professional players, claiming that the NFL repeatedly denied the existence of any connection.

Chronic traumatic encephalopathy is a very rare disease, and one of the difficulties in researching it is that it can only be definitively diagnosed post mortem. But the work of the Centre for the Study of Traumatic Encephalopathy is already causing waves in the world of American football, and there have already been calls for changes to the game's regulations, effectively banning head contact from the game. The Centre's research is still ongoing, so whether that will actually happen remains to be seen.

But are those helmets enough?

If you're interested in this topic and would like to find out more, I recommend the Centre's very informative website, which also has a selection of case studies you can read about.

IMFW: Facing Up To Your Problems

IMFW retro-post is sneaky. Yes, that's right. I am writing this Interesting Medical Fact of the Week on Wednesday because I'm rubbish,* but I am retroposting it so it looks like it was posted on Monday, because I'm cunning. But I'm telling you about it because I'm honest. Damnit!

Anyway, last week's interesting medical look at face transplants proved pretty popular - let's be honest, face transplants are both amazing and intriguing. And everyone wants to see the pictures. So I figured that I would carry on in the same vein/paranasal sinus, because I am too unimaginative to come up with another good topic at this late hour.

But here is a link to a pretty amazing film clip of Dallas Wiens, the first American man to undergo a full face transplant, one year after surgery. He suffered serious  burns from a high-voltage wire when he was just 23 years old, to the point where his entire face was effectively destroyed; he was blind, with no lips or nose, and he had to be placed in a medically induced come for three months while surgeons attempted to reconstruct what they could. Since the transplant, he has regained some facial sensation, is able to smell, speak and breathe through his new nose. When you see how severely disfigured he was before the transplant, you can appreciate just how incredible the effects of the surgery were.

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*And because I was in the office for ten hours straight on Monday and so busy I only just managed to take a ten minute lunch break.

IMFW: Face Transplants

Today's Interesting Medical Fact of the Week is all about face transplants! Recently an American man named Richard Lee Norris received what is allegedly the most extensive face transplant ever carried out, in which he received a new jaw, teeth, tongue and nose. The pictures are pretty incredible. After being severely disfigured by a gun accident, Mr Norris had been living as a recluse for fifteen years, wearing a mask whenever he had to leave home - and he had lost his sense of smell completely. That's all changed.

Only the 23rd facial transplant ever carried out, the operation was a gruelling 36 hours long; all Mr Norris' facial tissue from the scalp to the back of the neck was completely replaced. As with every transplant, there is a risk of rejection; recipients of face transplants have to take immunosuppressant drugs for the rest of their life, which increase their risk of cancer and infection. The first Chinese recipient of a partial facial transplant, Li Guoxing, died in 2008 just two years after his transplant, when he either stopped taking his immunosuppressant drugs or failed to take them correctly. There is also the potential psychological issue of patients finding it difficult to adjust to their new face; although such transplants don't give the recipient the face of the donor, nevertheless even after the most successful operation they will never regain their appearance from before their injury.

The world's first face transplant came in 2005 in France, on Isabelle Dinoire, whose face was so badly mauled in a dog attack that she was left unable to speak or eat. Dinoire has had problems with her transplant, including kidney failure and two episodes in which her body tried to reject the transplant. But from the interviews she's given, it seems that she has been happy with the results. The first full facial transplant came in March 2010, when a Spanish man who had accidentally shot himself in the face received a completely new jaw, nose, teeth, cheekbones and skin.

Face transplants can be controversial because some people see them as being done for "cosmetic", rather than purely medical reasons. Yet if you look at the people who have received facial transplants, it's clear that in every case their disfigurement affects their lives in much more than a purely "cosmetic" way. These are people so badly injured that they can no longer eat, drink, or - in some cases - breathe independently. For them, the risk of rejection and of a shortened lifespan due to the immunosuppressant drugs is worth taking in order to have the chance to live a more normal life.

Equally, as the story of Richard Lee Norris shows, even for those who remain independent after injury, the effects of severe facial disfigurement are much more wide-reaching than the purely medical, affecting employment, relationships and simply the ability to leave the house without feeling the need to cover your face. It's difficult for those of us who haven't experienced disfigurement to understand just how significant an impact it can have on people's lives. Obviously, face transplantation is an extreme step and certainly not one which is suitable for most people with serious disfigurement - but it should be available as a last option for those who cannot be treated by other means.

Some doctors have raised concerns over the way these transplants are followed up, suggesting that there should be greater emphasis on psychological analysis of patients, to gain deeper understanding of just how facial transplants affect recipients.

Connie Culp, the first US recipient of a face transplant.

The Guardian has a short history of face transplants here.

Has Obama Had Brain Surgery?

I ran across this (slightly old) news story while searching for pictures of MRI scanners, and it was a revelation to me! Being across the pond in Merrye Olde Englande, I had heard that the rabid frontiers of the American right wing are convinced that Barack Obama is a Muslim who was born outside of the US, but I hadn't come across the parallel accusation that he's had brain surgery, based on what supposedly looks like a scar on the back of his head. There was coverage in the Daily Mail - and David Icke, everyone's favourite herpetologist, also jumped on the theory: a sure sign of credibility.

Obviously the pictures mean pretty much nothing at all. Maybe his hair just grows that way. Maybe he cut his head open in the playground as a kid. Maybe he actually did have brain surgery. Maybe those scars are where his lizard masters buried into his body and started wearing him like a glove. But the rhetoric around it all was both amusing - why is it that apparently becoming the President of the United States entitles the world and his dog to see your complete medical records? - and sad.

IMFW: Nodding Disease

For today's Interesting Medical Fact of the Week, we're going to get a little bit Agatha Christie. I love Agatha Christie, because a) I love mysteries and b) I'm an old granny at heart. But in terms of mysterious illnesses, this one takes the biscuit.

So-called nodding disease (or nodding syndrome) was first described in the mountains of Tanzania in the 1960s. Since then, it's spread to areas in south Sudan and northern Uganda. It's an extremely serious progressive disease which only affects children, and it's almost always fatal. There is no cure. And no-one is even sure what causes the illness.

The symptoms of nodding disease include complete and permanent stunting of growth, including development in the brain, which leads to mental retardation. The name of the illness comes from the characteristic seizures suffered by affected individuals, which cause their heads to nod rapidly; the only treatment currently available for nodding syndrome is epilepsy drugs which can help to control these seizures. Extra weird is the fact that these seizures seem to happen most commonly when the child begins eating or feels cold. Children become severely malnourished because they are frequently rendered unable to eat. Many children with nodding disease actually die from falls or accidents like drowning or burning, which they're at higher risk of because of their mental impairment.

At the moment, the hypothesis that seems most likely to explain this disease suggests that it may be linked to river blindness (onchocerciasis), an illness caused by a kind of parasitic worm which is transmitted to humans through the bite of the black fly. Cases of nodding disease are concentrated in areas where there are high levels of infection with the river blindness parasite and it seems there may be a link, although no-one's yet worked out what it is. There may also be a link with low serum concentration of the blood.

There is a little bit of good news. The mysterious illness has attracted some international attention, and this week Uganda opened its first treatment centres specifically for children with nodding disease. At the moment, though, the best they can aim for is to control the illness's symptoms.

Travel to Mars, deform your pituitary gland...

Todays papers have been awash with the news that astronauts may suffer side effects from spending long periods of time in space; specifically, their eyesight may be damaged due to effects which appear similar to intracranial hypertension; i.e. increased pressure in the head. Their eyeballs have literally changed shape, making them more longsighted - which, in the case of those astronauts who started off with short sight, has actually improved their vision.

In pituitary-relevant news (which this blog is always excited about), doctors examined 27 astronauts who each had a cumulative total of at least 30 days in space, and of those 27, three were found to have slightly deformed pituitary glands. I have struggled to find any more details on exactly how their pituitaries were "slightly deformed"; I presume that their pituitary glands may have become somewhat flattened along the interior walls of the sella turcica cavity. And although that sounds suspiciously precise coming from me, I promise I'm not making shit up; that's what happens in primary empty sella syndrome, which can be a sign of intracranial hypertension.

Shit, where'd I leave my glasses?

IMFW: Poliomyelitis

Long time no Interesting Medical Fact of the Week! In fairness, this is the first time in several months in which I have failed so abjectly to produce an IMFW on a Monday. I don't have any excuse at all, so without further ado:

Today's Interesting Medical Fact of the Week is focusing on Poliomyelitis, commonly known as polio. When I was a child, the combination of the name of the illness and the fact that the vaccine is delivered on a sugarlump meant that I had a vague conception of polio as a round, white germ with a hole in the middle. At least I didn't think of it as a kind of posh horsey bacteria.* Or a car.

Quick recap of polio: it's a highly infectious viral disease. About 90% of people who are infected will not have any symptoms. 5% will have only very mild symptoms, like a cold or 'flu. 1% will have a more serious episode of 'flu-like symptoms, often with muscle stiffness and meningitis. And only about 0.1% of cases will develop paralytic polio, in which the virus attacks the central nervous system and produces the "classic" polio symptoms which most people would recognise: the muscles of one or more limbs become extremely weak and finally paralysed. In cases where the virus invades the bulbar region of the brainstem, it may cause difficulty breathing, speaking, and swallowing.

Although there are vaccines for polio, there is no cure. Patients who are unable to breathe independently can be kept breathing using a negative or positive pressure ventilator until they have recovered, although in some cases polio survivors may need to use one of these devices for the rest of their lives. About half of patients with paralytic polio do recover completely, but around a quarter are left with significant permanent disability.

Since a global effort to eradicate polio began in 1988, the number of annual cases of polio being diagnosed has reduced by 99%. The initial eradication initiative aimed to eliminate polio by the year 2000; twelve years later, the disease is still clinging on in a few countries and is still considered endemic in Afghanistan, Pakistan and Nigeria. The last case in India was in January 2011, and the country is hoping to be certified as free from endemic polio shortly.

Efforts to eliminate the disease in these countries have been hampered by instability, as well as rumours in Nigeria that the vaccination effort was a Western conspiracy to spread HIV and sterilise Nigerian girls. Vaccination was banned for several years, leading to a massive upsurge in infections in Nigeria and the transmission of polio back into neighbouring countries. Vaccination boycotts have also taken place at various times in India; and in Pakistan and Afghanistan the Taliban have issued fatwas against polio vaccination.

In 2011 there were 649 cases of polio reported worldwide, with over half of these from polio-endemic countries, compared to around 350,000 in 1988.
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*Not least because it's a virus.

I Want Acromegaly

As many of you are no doubt aware, I'm the kind of sad and tragic person who has enough time in her life to trawl the internet for other blogs about pituitary adenomas. Due to a weird and extremely irritating Blogger glitch, I'm unable to follow anyone anymore, but I still seek them out.

And two separate sites I found today, both about acromegaly, got me thinking. They got me thinking so much that I suspect I'll have to split my thoughts out across a couple of posts, or risk literally boring my readers to death.

The first was this: a conversation on a forum begun by a guy who claims to want to have acromegaly.

Quick recap: Acromegaly is a serious illness caused by a rare brain tumour on the pituitary gland which releases growth hormone into the blood. It can cause uncontrolled growth throughout the body, especially the hands, feet, chin, nose, tongue and forehead. It can also cause impotence, congestive heart failure, kidney failure, diabetes, loss of vision, and death. It is a devastating diagnosis for those unlucky enough to have it.

I quote:

"I really want to have this condition. I want it because I have a "babyish" face and my facial bones are not as developed as they should be. I'd rather not get cosmetic surgeries such as chin impants and jaw implants. When my face becomes as masculine as I want it to be I'll just get treatment for it.

Also my hands are small for a mans and I'd like to have bigger hands.

[...] How can I induce acromegaly in my body? Is it even possible?"

This guy may be a genuine idiot, or he may be a troll, but the fact is that there really are people fuckwits out there who inject themselves with growth hormone because they think it will make them better at sports/bodybuilding.* These people are effectively giving themselves mild acromegaly, despite the fact that there is really very little evidence that it could improve sporting performance, and it may actually decrease stamina despite increasing muscle mass.

Those of us cursed with epic fail bodies that go haywire at the slightest provocation tend to strongly resent it when fit and healthy people take risks with their health and fitness for the purpose of vanity. When I was having the packing removed from my nose after my brain surgery, and it was incredibly painful and there was blood everywhere,** the first thought that went through my head was: "Why would anyone ever have a nose job by choice?" (Plus, as a person who regularly has health professionals sticking needles in me, I can't get my head around someone actually volunteering for human pincushion duty).

Going around saying that you want to have acromegaly to gain a better jawline is like saying you want to get cancer so you can lose weight. Not only is it incredibly disrespectful to those people who seriously suffer with a horrible illness, it's just incredibly stupid. Injecting yourself with growth hormone so you can stand on a stage with a bunch of other people and flex your muscles impressively... words fail me. Not only are you putting your body and your health at risk, but you're cheating. All the other hard work you did to get those muscles is wiped out. You didn't win because you happen to be the muscly guy who worked the hardest and had the best muscly genetics out of all the hardworking muscly guys with muscly genes; you won because YOU'RE A DUMBASS.

Actually got surprisingly angry writing this! My next post on the topic of acromegaly, Cushing's disease, and physical appearance is coming soon...

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*I recommend clicking on that link and scrolling down to the photo of the incredibly muscular man cuddling his pillow with his giant melon-packed arms, it's hilarious.

**In fairness, apparently it's not usually as bad as that, I just have a particularly objectionable nose. If you're squeamish, don't continue reading: The first time the nurse tried to pull the packing out, I asked "How badly will it hurt?" and the nurse replied "A bit." I am fairly good at dealing with pain usually, so I braced myself. She gave the packing a firm nug and it felt like my nose had exploded. I shrieked and she gave me a slightly unsympathetic look and told me I had to "get it over with". On the second attempt, she got the packing out, along with really quite a surprising gush of blood that went all over the floor. It hurt so much I was physically shaking and the nurse was forced to admit that it wasn't usually quite so horrendous.

IMFW: "Excited Delirium"?

Today's Interesting Medical Fact of the week is about a medical condition that may or may not, in fact, exist. Wikipedia defines "excited delirium" as "a condition that manifests as a combination of delirium, psychomotor agitation, anxiety, hallucinations, speech disturbances, disorientation, violent and bizarre behavior, insensitivity to pain, elevated body temperature, and superhuman strength." Never heard of it? Neither had I.

Excited delirium is not  recognised as a cause of death by the Department of Health or the World Heath Organisation. It has become an extremely controversial topic in the UK recently, due to the death of Jacob Michael, a 25 year old man who died last year in police custody. The Home Office pathologist found that he died of excited delirium; Michael's parents disagree, arguing that the pathologist ignored the effects of heavy police restraint on their son.

Excited delirium has been cited as a cause of death in a number of death-in-custody cases in the UK, and more in the US; it started turning up in pathology reports in the 1980s. Many of the people who are reported to have died of excited delirium have cocaine or other drugs in their system, and it's been variously suggested that their death is due to excessive adrenaline or organ failure due to a massive spike in body temperature, with the risk of death being increased by pre-existing conditions.  But  Eric Balaban of the American Civil Liberties Union suggested that the diagnosis of excited delirium is used "as a means of white-washing what may be excessive use of force and inappropriate use of control techniques by officers during an arrest", with most reported cases of the disorder found in people who have died in custody.

There may be an explanation for this; Dr Vincent Di Maio, a former chief medical examiner in Texas, suggested that it is the very act of resisting or fighting with police which tips sufferers over the edge, and that police then wrongly get the blame. Some doctors have said that deaths from police brutality are clearly distinguishable from those due to excited delirium, with the physical marks of brutality obvious; others have accused taser manufacturers of using the diagnosis to explain away the deaths of people who have been hit with tasers. It's pretty much a minefield of conflicting opinions.

But Balaban argues that the symptoms of excited delirium are simply the symptoms of mental illness, possibly exacerbated by drug use; and this article looks at other medical conditions which can look like excited delirium, listing delirium tremens (alcohol withdrawal), hyperthermia (severe overheating), severe low blood sugar in diabetes, traumatic brain injury, viral encephalitis and thyroid storm (massive hyperthyroidism often caused by very high stress). The article does not mention epilepsy, but in some cases epileptic fits can lead sufferers to become extremely disoriented and confused, and there are probably several other disorders which could give rise to symptoms similar to those of "excited delirium".

It's an interesting debate to follow, although as someone with little knowledge of either medicine or police work, I'm hardly qualified to draw any conclusions. There's also the issue that the question of excited delirium is twofold; some question whether it is a medical condition at all, whereas others merely question whether it's a medical condition which in itself would actually lead to death. I will follow the debate with interest.