Wednesday, 29 February 2012

Happy Rare Disease Day 2012!

Happy Rare Disease Day 2012! Yes, it's that jolly time of the year again, when families across the globe gather together to celebrate the myriad exciting ways in which the human body can baffle trained physicians. This year is extra special, as the fifth international Rare Disease Day falls on the 29th February, the rarest calendar date of them all. The event focuses on extending solidarity, both between patients with different rare diseases, and with society at large.

I already have a rare disease (in fact, I technically have two: TSH-oma, and hypermobility syndrome, which is now classified as a subtype of Ehlers-Danlos Syndrome. But although my hypermobility causes joint pain, it also gives me nice soft skin, so I guess you have to take the rough with the unusually smooth). I am aware, however, that many of my more healthy readers may be feeling a little left out of the rare disease jamboree today.  Most rare diseases are genetic - and it's very difficult to know in advance whether you're harbouring the kind of genetic anomaly which will allow you to get better aquainted with the medical profession. So, in the interests of this year's Solidarity theme, and in case you really are that desperate to join in, I have prepared a list of my top four rare diseases that you don't need mad genes to develop. All you have to do is pick one, and get infected:

Top 4 Rare Non-Genetic Diseases

1. The Bubonic Plague
In the West, bubonic plague is now extremely rare, although the plague killed millions in the Middle Ages. Globally there are about 1000-3000 cases reported by the WHO every year. Modern antibiotics are an effective treatment if administered quickly.
Upside: This one has a pleasingly retro feel. There's nothing like walking into a conference of medieval scholars and announcing you've survived the Black Death.
Downside: Gangrene of the extremities, seizures, vomiting blood and extreme pain.
Will I die? Mortality is 1-15% in treated cases. In untreated cases, it can be up to 90%.
How do I catch it? Usually through being bitten by an infected flea.

2. Guinea Worm Disease (Dracunculiasis)
Warning: this disease is available for a limited time only.
A global eradication effort began in 1980. In 1986, guinea worm was endemic in 20 countries, with 3.5 million cases across the world every year. In 2011 only four countries were still endemic for guinea worm disease, with 1,060 cases globally.
Upside: If you time it right, you could be one of the last people in the world to have dracunculiasis. And there's got to be a certain number of TV interviews in that.
Downside: After catching it, guinea worm has an incubation period of a year before the worm starts to travel down through the leg, causing immense amounts of burning pain, fever, nausea and monitoring. It then emerges from the skin. There's no treatment and the only way to remove the metre-long worm is to wrap the live worm around a stick and slowly wind it out - a process which can take months. And frankly: eew.
Will I die? Unlikely. Risks are that the wound where the worm emerges may become infected, or if the worm is broken as it's being pulled out of the skin, it may putrefy inside the limb.
How do I catch it? Drink water contaminated by water fleas which are host to guinea worm larvae - still available in South Sudan, Ethiopia, Chad, and Mali!

3. Kuru (Laughing Sickness)
The last known sufferer of kuru died in 2005, so catching this one may be tricky. Kuru was an epidemic amongst the Fore tribe of Papua New Guinea, due to their cannibalistic funeral practices, but unknown elsewhere. It's believed that the disease originated with an individual who spontaneously developed Creutzfeldt-Jakob Disease, a degenerative neurological disease caused by proteins called prions. When his or her body was consumed after death, the disease spread amongst the Fore, and there was a continuous cycle of new infections as sufferers were eaten after dying from the illness. Once cannibalism stopped, the disease began to die out, but because it can have a very long incubation period, new cases cropped up every now and again until 2005.
Upside: The last known sufferer died in 2005. A new patient would be a medical celebrity.
Downside: Everyone would know you're a cannibal. Oh, and you would slowly completely lose control of your body, develop severe tremors and emotional instability, become unable to speak or swallow, become incontinent, and acquire sores and necrotic ulcers.
Will I die? Yes. There is no cure. The good news is that you may have an incubation period of up to 40 years before symptoms develop. The bad news is that you will die about a year after that.
How do I catch it? You need to eat part of the body of someone with the disease (preferably the brain, if you can get it), or allow broken skin to come into contact with the blood or brain matter. Or you could inject yourself with it. But where's the fun in that?

4. Brain-eating Amoeba (Naegleria fowleri)
This is a nasty little unicellular parasite which is actually pretty common in warm, stagnant freshwater worldwide, but can invade the central nervous system via the nose, and then into the brain where it causes primary amoebic meningoencaphalitis.
Upside: You'd definitely make it into the local paper. Only 300 confirmed cases had ever been recorded in the medical literature by 2008.
Downside: Headache, vomiting, delirium, seizures and irreversible coma.
Will I die? Almost certainly. As of 2008 the in-hospital case fatality rate was 97%.
How do I catch it? Your best bet is swimming in infected water, or preferably by using a neti pot; weirdly, water that is safe to drink may not be safe to irrigate your nose with. But remember: the brain-eating amoeba has to get a long way up inside your nose before there's a chance of infection, so if at first you don't succeed, try again.

For more information on rare diseases in the UK:

Tuesday, 28 February 2012

Get Ready for Rare Disease Day 2012

Rare Disease Day 2012 is tomorrow, the 29th February, and I hope you're all as excited as I am. Yay, diseases!

The definition of a rare disease in Europe is a disease with an incidence of fewer than one in two thousand people. There are thousands of rare diseases, and although each disease is individually rare, taken collectively rare diseases affect 6% of people in Europe and account for 20% of healthcare costs. Rare Disease Day aims to raise awareness of the problem of rare diseases, and the fact that research into treatment of these kinds of diseases tends to be significantly underfunded.

For more information, check out the Rare Disease Day 2012 website, or infect yourself with an unusual pathogen!

Polio No Longer Endmic to India

After last week's post about polio, I thought I should share the news that, after a year without a single case, India is no longer considered to be a polio-endemic country. This means that only Pakistan, Afghanistan and Nigeria still have endemic polio. It will take three full years without any cases before India can be considered "polio-free" by the WHO.

Monday, 27 February 2012

Rare Disease Day 2012

It's Rare Disease Day 2012 on Wednesday 29th February, and I am almost as excited as I was for National Pituitary Awareness Month in October. The Pituitary Foundation is supporting Rare Disease UK, and you can find out more about the events on offer and how to get involved by clicking here.

Also, check out this list of 21 rare diseases compiled by the Huffington Post to mark last year's Rare Disease Day. Ok, so some of the conditions they list are really symptoms rather than illnesses in and of themselves, but clearly they've gone for the most sensationalist conditions out there, and more power to them. First illness on the list? Acromegaly/gigantism. Whoop whoop!

IMFW: Turned Into Bone

This week's IMFW is about an extremely rare and extremely curious genetic illness: fibrodysplasia ossificans progressiva. In this disease, fibrous tissue such as muscle, tendons and ligaments are ossified - literally turned into bone - when damaged.

As you can imagine, the illness causes severe disability, with sufferers becoming slowly trapped inside immovable sheets of bone; new growths of bone often join up with the main skeleton. Bone growths may leave patients unable to eat, speak, sit down or even breathe as the growing bones compress the lungs. Attempts to remove the excess bone usually only results in further growth, because any injury (such as surgery) to fibrous tissue is liable to result in ossification of that tissue. The notable early symptom of this illness is that babies with the genetic mutation which causes fibrodysplasia ossificans progressiva are usually born with deformed big toes; however, the illness is so rare that sufferers are often misdiagnosed, and the bone growths taken to be cancerous tumours.

One notable sufferer was Harry Eastlack, who died before his fortieth birthday and bequeathed his skeleton to medical science. You can see a photograph of it here.

Although the genetic mutation which causes this condition has been identified, there is no cure and no real treatment.

Friday, 24 February 2012

Health Update

My poor little blog is really looking quite neglected! Fortunately I had a trip to the hospital yesterday. To see a doctor, I mean, not just for fun.

After being weighed and having my blood pressure done, I was called in to see.... a doctor who is not my endocrinologist. My endocrinologist seems to be displaying classic signs of pathological demand avoidance syndrome, in that every time someone arranges an appointment for him to see me, he disappears. He's been my endocrinologist for seven months now and I've only met him once, in passing, while I was having some blood tests. Perhaps he's put off by the possessive way in which I refer to him as "my" endocrinologist, but if so then he really needs to address the problem, or how can our relationship progress to the next level?*

Anyhow, we went through my latest blood test results and, being the marvel of medical science that I undoubtedly am,** my body appears to have pulled off the neat trick of producing higher levels of thyroid hormone during treatment with a thyroid-stimulating-hormone suppressing drug than before treatment. Apparently they're not concerned, because the tumour does produce quite low levels of TSH anyway and all my thyroid hormone results are within the upper normal range, so the only way they can tell what's going on is to look at the alpha subunit, a particular protein which tends to be over-produced by TSH-producing pituitary adenomas. The test result takes 4 weeks to come through, so we have to wait to find out where I am at the moment. Over the last year or so, though, they were:

Before surgery last April: 13.00
After surgery: 8.40
This January: 5.90

What it's meant to be: 1.00 or less.

So it could be worse, could be better! Fingers crossed that the lanreotide injections are doing the trick. I get to have another MRI sometime soon (they forgot to book it in for me, apparently I was supposed to have one in February) and to go back in 2 months. Oh, and they recommended I be referred to the Ear Nose and Throat team for my stupid malingering post-surgery sinusitis. You know. The sinusistis my GP told me couldn't be related at all to the surgery... oh well. I get to explore another hospital department. Whoop whoop!

*i.e. the level at which he is actually in the room when I am supposed to be meeting him.

**Shut up, I so am.

Wednesday, 22 February 2012

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.
*Not least because it's a virus.

Wednesday, 15 February 2012

Acromegaly: A Monstrous Illness?

Last week I wrote about the first of two websites which got me thinking about acromegaly, and I've been thinking away all weekend. The second thought-provoker was this post, on a blog about horror films, which mentions the little-known 1944 film The Monster Maker. Why is this film of interest? Because the plot centres around acromegaly. Kind of. Let's just say that The Monster Maker is to acromegaly as The Core is to science.

Brief disclaimer: I haven't watched this film, just read about it. But here's a rough synopsis; I can't imagine anyone's too worried about spoilers for a film that came out almost seventy years ago.

We start with one mad scientist, Dr. Igor Markoff.* Years previously, he injected his wife with the "acromegaly virus" for the rather melodramatic reason that he wants to disfigure her so that no other men would want her. Consequently, she committed suicide. In the present, he comes across Patricia, the daughter of a famous pianist, who just happens to look exactly like his dead wife. Before she developed acromegaly, presumably.

But Patricia isn't interested in Markoff's subtle advances.** So obviously, the logical course of action is for Markoff to infect her father with the "acromegaly virus" as well, and then use the prospect of a possible cure to blackmail him into getting her to marry Markoff. The ending of the film seems somewhat confused, but by all accounts it appears to involve a man in a gorilla suit. Because... well, why the hell not?

Leaving aside the dodgy science, and indeed the gorilla, this film sounds interesting. Patricia's father, Anthony Lawrence, becomes sick and deformed, taking on the appearance of a monster thanks to some serious effort on behalf of the makeup department; Igor Markoff looks entirely normal, except for his trademark I'm-an-evil-genius goatee. Lawrence's appearance inspires fear in the viewer; Markoff is the real monster. The moral of the story is so crushingly obvious that a child could pick up on it, although these days most children would probably be complaining that the film isn't scary enough - and besides, it's in black and white! What's that about? And why didn't they just CGI the gorilla? Seriously, WTF.

But people who suffer from disfiguring diseases like acromegaly and Cushing's Disease in real life don't have the advantage of B-movie actors and low budget sets to ram this point home to every stranger they run across in their daily life.

Acromegaly sufferers often experience discrimination because of their appearance. In advanced cases, as well as facial deformity and increased height, massive growth of soft tissues may give the impression of being overweight. The resultant discrimination can be particularly bad for women; activist Tanya Angus has spoken about how she's treated differently since developing the condition.

 Similarly, in Cushing's Disease, a pituitary tumour causes sufferers to put on weight, often to the point of obesity. Not for nothing has it been called "the Ugly Disease". But strangers don't know that; most people are likely to think that a person is overweight due to greed. To quote a Ricky Gervais joke "We all eat too much in the West. But it's people who say it's glandular, isn't it? It's not glandular, it's greed". Well, sometimes... it is glandular. It's pituitary glandular, it's adrenal glandular, it's thyroid glandular. Glands can seriously screw you over, as I have learned. It's difficult enough being diagnosed with a serious, hard-to-treat illness which causes physical pain and makes you fat and destroys your self-esteem. But to also have to put up with abuse from complete strangers who refuse to believe you're even ill must be horrific. And because Cushing's usually takes a long time to diagnose, sufferers often go years believing that it's their fault that they're putting on so much weight, even though they're eating healthily and exercising well.

These are problems that need to be addressed. It's bizarre that while it's now (happily) seen as unacceptable to discriminate against people on the grounds of race, gender or sexuality, discriminating against people who are overweight, and making assumptions about their medical conditions, seems to be ok.

*N.B. that it's very important for mad scientists to have vaguely foreign-sounding names.

**He sends her flowers every single day, filled with creepy notes and messages. Oh, and he watches her continually. No matter what Twilight's told you, boys, stalking is not a romantic way to woo a lady.

Monday, 13 February 2012

IMFW: Schistosomiasis/Bilharzia

In today's installment of Interesting Medical Fact of the Week, we're going to be looking at schistosomiasis, also known as bilharzia, bilharziosis or snail fever. Never heard of it? After malaria, schistosomiasis is the second most devastating parasitic disease in tropical countries, and yet it can be controlled and easily treated with just one dose of a medication called praziquantel. One dose of praziquantel costs 18 US cents - that's about eleven pence. In the West, it's mainly used as a dewormer for cats and dogs.

Schistosomiasis is a disease caused by parasitic worms called schistosomes, which are carried by freshwater snails and then release larvae into the water. The larvae may then infect people when the water comes into contact with human skin; for example through swimming or washing. These parasitic worms then live in the veins near the bladder or intestines, laying eggs which can seriously damage the intestines, liver, bladder, and lungs. The eggs are then excreted, and will hatch in freshwater where they go on to infect new freshwater snail hosts. And so, the cycle continues.

Over 200 million people are estimated to be infected with this disease, of whom about 20 million will suffer severe consequences. Schistosomiasis is a chronic disease, and as such doesn't usually kill, but rather weakens the sufferer and leads to long-term ill-health; nevertheless, the WHO cites statistics suggesting that over 200,000 deaths per year are due to schistosomiasis in sub-Saharan Africa alone. In populations which are particularly vulnerable to malnutrition or dehydration, it is more likely to be a killer disease.
Symptoms of chronic bilharzia usually develop one to two months after the initial infection, and include fatigue, kidney and liver disease, bloody urine, bladder dysfunction, and diarrhea; there is also an increased risk of bowel cancer in infected persons, and the illness weakens the body's resistance to other infections. There is also an acute form of schistosomiasis, however, also known as katayama fever, which presents with a fever, muscle ache, liver enlargement, lymph node enlargement, abdominal pain, breathing difficulties, diarrhea and painful urination. In many cases, people infected with schistosomiasis may be largely asymptomatic except for fatigue.

It's an illness which westerners only tend to come into contact with on backpacking holidays and is most prevalent in sub-Saharan Africa, China, Brazil, the Middle East, the Caribbean and Southeast Asia. About half of all people who have swum in Lake Malawi test positive for schistosomiasis, yet many travellers are completely unaware that they may be putting themselves at risk of this disease by swimming or wading in freshwater. Every year, there are around 100 cases of the disease diagnosed in England, Wales and Northern Ireland among people who have travelled abroad.

There is no vaccine for schistosomiasis, and the main aim of disease prevention efforts is to eliminate the snails which act as hosts for the parasite. Various techniques have been used to this end, including treatment of water with copper sulphate, niclosamide, gopo berry, and the introduction of (or augmentation of existing populations of) freshwater crayfish. The tragedy of this disease is that many vast irrigation and dam schemes have been built in Africa and elsewhere which have contributed to the spread of the disease, despite the fact that UN guidance was available from the 1950s onwards, detailing how such schemes could be built to minimize the problem and make it difficult for snails to colonize the water.

Thursday, 9 February 2012

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...

*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.

Wednesday, 8 February 2012

Picture Me This

I have decided that what this blog is reallly lacking is pictures. As a graduate of the five-year-old-child school of picture-book thinking, I am pretty much certain that the ratio of writing to ANYTHING ELSE is skewed. This blog is VISUALLY DULL, and randomly writing phrases in capital letters will not help that.

I don't really have any exciting pituitary-adenoma-relevant pictures, other than maybe one of me in hospital with a big fat bloody nose right after surgery, and honestly that's a picture-book which the five-year-old child does not need to see. I don't even have a copy of one of my MRIs. But I am going to the zoo this weekend, so I guess I can always bring back a picture of a tiger...

Obviously I didn't take this picture, because it's actually good. Damn you, B_cool on Flickr!

Monday, 6 February 2012

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.

Friday, 3 February 2012

The Silence of the Gland: Diagnosed

It's been a while since I wrote the last post about my previous attempts at diagnosis, so I decided to man up and get the heck on with it. Yeah! USA! USA!*

Obviously my tales of pituitary surgery will be the most enthralling/gross, but who knows, maybe the events leading up to surgery will also be of interest to someone. If worst comes to the worst and I develop dementia in my old age, I guess I can read all about my exciting earlier life!


It had been determined that there was nothing wrong with my heart. My cardiologist ordered several blood tests and referred me to endocrinology.

This is where it gets dull and technical.

What I didn't know was that, up until that point, although I showed symptoms of hyperthyroidism, my doctors had only ordered blood tests which looked at my levels of thyroid-stimulating hormone, rather than the thyroid hormones themselves. TSH is produced by the pituitary, then it travels through the blood and spurs the thyroid gland to produce thyroid hormones. Usually, when hyperthyroidism is caused by a problem with the thyroid gland, you would expect the pituitary gland to produce only very low level of thyroid-stimulating hormone (TSH), as the body is trying to suppress the overproduction of thyroid hormones. However, my TSH tests had always come back within the "normal range", so it was assumed that hyperthyroidism was not the problem.

Then a letter dropped through my door from one of the consultant endocrinologists at the hospital. It informed me that my blood test results were "very unusual", and that they suspected I may have a rare condition called resistance to thyroid hormone (RTH). I was called into the hospital for further tests.

At the hospital, I met the consultant who had written the letter. To this day, he possesses one of the finest moustaches I have ever seen. Whilst I sat wondering what kind of scissors he used to trim it so neatly across his upper lip, he informed me that resistance to thyroid hormone is a rare genetic condition, in which most or all of the body's tissues do not respond normally to thyroid hormone. In some people, there are few symptoms as the whole body is equally resistant to the hormone, resulting in high levels of thyroid hormone in the blood but few issues associated with this; in others, the pituitary is more resistant than other tissues to thyroid hormone, leading to some symptoms of hyperthyroidism.

My blood tests showed that I had normal levels of thyroid stimulating hormone, but high levels of thyroid hormones T3 and T4 in my blood - indicating that my pituitary was not responding normally to the high thyroid levels. I was told that the only other possibility was that I might have a tumour on my pituitary which was producing TSH, a.k.a. a TSH-oma, but that this was even more absurdly rare than resistance to thyroid hormone and it was much more likely to be RTH.

I had more complex blood tests at the hospital, and they even took DNA samples to look for the particular mutation. Everything came back negative. The moustachioed doctor's main area of interest was resistance to thyroid hormone, so he passed my case to a colleague specialising in pituitary issues; it was pretty much certain by then that I had a pituitary adenoma, they just needed an MRI to show the tumour. Which they did - and I've already written a post about the MRI, which you can read here.

I don't really remember the phone call from my endocrinologist informing me that I did indeed have a pituitary macroadenoma, measuring 23mm by 19mm by some other measurement which I've forgotten. By that point I had had a chance to get used to the idea that I had a pituitary tumour, so the phone call was really just official confirmation with additional details. But I do remember calling my mum to tell her the news; I walked home from work the long way, through one of the big parks nearby.

After that it was a bit of a whirl of activity. I got the news just before Christmas 2010 and as soon as I arrived back in town after New Year's, I had to arrange to start lanreotide injections to reduce the amount of TSH the tumour was producing. They wanted me to have injections for three months, then a transsphenoidal hypophysectomy (that's pituitary surgery to you and me) immediately afterwards. I had to spend a day in hospital so that they could check that my pituitary was still producing other hormones at a normal level and wasn't about to collapse due to a lack of adrenocorticotropic hormone or something. It all passed in a bit of a blur; the idea of surgery was definitely what most occupied my mind in the intervening months...

UPDATE: You can click here to read about my experience having an MRI scan, or click here to go back and read about my earlier experiences trying to get a diagnosis.
*Or something...

Wednesday, 1 February 2012

The Wonderful Thing About Hormones, Is - SHUT THE HELL UP I HATE YOU

Now, as you may or may not have noticed, I am of the female persuasion. And one of the irritating things about this is that, when you get annoyed, no matter how legitimate your grievance, there are a few gentlemen dotted about the place who will always respond with "LOL IT MUST BE HER TIME OF THE MONTH HAHA WOMEN EH AND THEIR MYSTERIOUS HORMONAL PROBLEMS CAN'T LIVE WITH EM CAN'T KEEP EM ON A CONTINUOUS DIAZEPAM IV TO CORRECT THEIR CRAZY LADY ISSUES".

The trouble with this reaction is not just that it is stupid, but also that there is no way of responding to it that does not justify the accusation in the minds of the accusers. If you remain silent, it implies that you agree. If you punch them in the face, this is taken as further evidence of "hormonal imbalance", when in fact it is self-evidently the correct course of action.

But anyway, my experiences over the last year or so of undergoing treatment for my pituitary macroadenoma have certainly made me appreciate The Power of Hormones. And that's what we're going to learn about today.

So what are hormones? Obviously, as we all kind of slightly know, they're like chemically things that sort of slosh around your body, and if they get imbalanced then you go mental and start shouting at people and probably have a hot flush.

On closer examination, this sounds suspiciously like the theory of the four humours, so I turned to Wikipedia for a delightfully un-technical definition: "A hormone is a chemical released by a cell or gland in one part of the body that send out messages which affect cells in other parts of the organism… In essence, it is a chemical messenger that transports a signal from one cell to another."

The pituitary gland is a little gland at the base of the brain, and it sits around all day secreting nine different types of hormone which help to regulate growth, metabolism, water balance, lactation, aspects of preganancy and childbirth, body temperature, blood pressure and more. Given the complex feedback mechanisms required to keep all these hormones in balance, it's easy to see that when you develop a pituitary adenoma which secretes hormone(s), it throws everything completely out of whack.

Pituitary adenomas may secrete growth hormone (acromegaly), adrenocorticotropic hormone (Cushing's disease), prolactin (prolactinoma), or as in my case thyroid-stimulating hormone (TSH-oma). But then it gets complicated, because each hormone may interact with and affect the levels of other hormones as well. So, for example, in my case my body was producing too much thyroid-stimulating hormone, which caused my body to produce too much thyroid hormone, which had a knock-on effect on other hormones including prolactin and SHBG (technically not a hormone itself but a glycoprotein which affects the levels of other hormones in the body). It's basically like your body has spent ages laying out a complex pattern of dominoes on the floor, in which one starter domino needs to be flicked for them all to neatly fall over, and then some buffon comes tramping in wearing giant boots and stomps right in the middle of them. Lots of the dominoes fall over, some don't, and it's a bloody nightmare trying to set it all up again.

So, this time last year, my hormones were completely messed up and I was experiencing all kinds of crazy symptoms; rapid heartrate, hair falling out, massive appetite etc etc. And then I started treatment with lanreotide injections - the same injections that I'm having at the moment - and started to see an improvement in my TSH levels, which continued for several months and has only just got worse again (damnit!).

I already knew about The Power of Hormones. When your heart's going at 140bpm it's hard to ignore. But I hadn't really been prepared for the fact that when I began treatment, my changing hormone levels would affect me in more ways than simply improving my symptoms. The same thing has happened again in the past week or so since having my first injection. The first thing to arrive, just like last year, was the Crazy Appetite Swings. On Sunday, I had no appetite. I could happily have eaten nothing all day; just having a coffee in the morning made me feel really full. On Monday, I was back to normal; by Tuesday, I was completely ravenous.* There will probably be weeks of me alternately spending days completely uninterested in food, and then making like the Very Hungry Caterpillar and eating my way through anything placed in front of me, up to and including my own desk.

But the Crazy Hunger Swings are not so crazy as the Crazy Cat Lady Mood Swings. I guess I am fortunate in that my mood swings haven't tended too much towards the angry thus far,** but rather to the excessively emotional. For example, yesterday I was walking home from work, listening to my ipod as per usual, when all of a sudden and to my intense embarassment I burst into tears at a Beyonce song. I'm not going to say which song, out of shame, but the fact that I had this sudden surge of emotion struck me as rather hilarious and I then started giggling, so I was walking home laughing and weeping like a complete maniac and generally very glad I didn't see anyone I knew en route. I'm going to try my best not to adopt hundreds of cats and live in a bin liner, but at the rate I'm going the position of local madwoman may well be within my reach very shortly.

After a few more weeks of treatment, hopefully my hormones should be more in balance, but until that happy day every time my eyes well up with tears at the sight of a cute piglet in a teacup, I shall remember The Power Of Hormones.

*Admittedly not ravenous enough to eat the horrific curried parsnip soup I had for lunch at work, though.

**Although last year I would occasionally find myself becoming suddenly and irrationally furious if someone, say, dared to walk in front of me on the pavement. Happily, as soon as I recognised I was being silly the feeling would go away.***

***And if that didn't work, I used to just push them into the path of oncoming traffic.