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: http://www.raredisease.org.uk/

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.

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.

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!

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*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.

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.