However, interesting events beckon. On Monday, I’ll be attending a conference in London on behalf of AMEND which aims to raise  awareness about the current practices and ethics of animal testing in medical research. I’ll provide a write-up both here and for the next AMEND newsletter, but if you have any questions that you’d like me to put to the doctors, leave a reply here and I’ll do my best to get it answered. Alternatively, if you’re new to the issue, take a look at this page from Oxford University: research using animals.

Much has been made of cases where treatments are available, and where faith healing has been used in place of standard medical practice, often leading to unnecessary deaths. But I came across a more intriguing case today, of a family with a genetic disorder for which a treatment exists, but which they apparently didn’t know exists.

On Mary Velez’s blog – a blog called The Way of Love, which is devoted to her career as a spirit healer – she wrote about a young boy, Marcel, whose parents came to her for help because he had been diagnosed with Multiple Endocrine Neoplasia (MEN) and was told he has less than a year to live.

As a patient with MEN myself, I know the condition very well, and, importantly, there are two types, distinguished by the different glands that they damage. I have type 1, and I suspect Marcel and his family have type 2, as type 2 is far more likely to spread as a cancer, especially when young.

Both types of MEN are well-understood by educated endocrinologists, and both of them are treatable. The standard practice is to simply remove tumours wherever they occur, which sounds simplistic and can necessitate life-long medication, but it works. Now, thanks to amazing genetics research in the past few decades, patients with both MEN1 and MEN2 can expect to live as long as anyone else, so long as they have a good doctor who diagnoses it early.

For children with MEN2, and therefore with Marcel, the most important procedure is to remove the thyroids as early in life as possible in order to stop all chance of metastasis. Ordinarily, if a child’s parents already know that they have the disorder in the family, the child will have an operation very soon after birth. Sadly, even though it seems Marcel’s family was aware of the genetic condition, they and their doctors cannot have known that Marcel ought to have had his thyroids removed immediately. If they had known this, Marcel could have lived a much longer life.

Multiple Endocrine Neoplasia is not a fatal condition when well-managed. It is absolutely heart-breaking that Marcel has been given a death sentence, but what this case demonstrates is that information, education and learning about health conditions are what saves people. If you fall back onto faith healing, you are accepting that things are beyond your understanding and control. You therefore accept defeat. Although many individuals will have conditions so advanced that no new treatment can help them, anyone affected by MEN or other horrible illnesses should push for more consciousness raising and medical research, so that awareness is raised amongst doctors, and other families realise that it doesn’t have to be this way. There is hope, and it’s in science.

Having a multiple endocrine neoplasia disorder requires life-long surveillance unless you reach the unfortunate stage of having all your potentially affected endocrine glands removed (which, in itself, would necessitate life-long regimes of medicinal supplements). So, for me, although the period from October 2008 – May 2011 was my major period of diagnosis, medical and surgical treatment, and general personal upheaval, my calmer period nevertheless features regular trips to the hospital.

Probably the most important surveillance technique in managing MEN1 is an annual MRI scan, with mine happening to fall in January. Although an MRI can occasionally detect a parathyroid tumour (other nuclear medicine scanning techniques are more effective), MRI scans are used in MEN patients to keep track of pituitary and pancreas tumour development. This could mean either detecting a tumour in the first instance, or making sure that a tumour already detected isn’t growing or spreading. Whether you have any tumours on these glands or not, if you have the MEN1 gene, it is suggested that you have these annual scans.

In my own case, I have a pituitary adenoma already detected, and a collection of pancreatic tumours, half of my pancreas having already been removed. In my case, as the pituitary tumour is a micro- (small) rather than macro- (large) adenoma, it is unlikely to grow and cause physical problems near my eyes and brain, so surveillance is of low importance, while medicinal treatment with testosterone replacement to offset the increased prolactin production is vital. Instead, my pancreas is the major focus of my annual trip inside the scanner, as there is roughly a 50% chance of pancreatic tumours turning malignant in patients with MEN1.

There are two key features to look out for in patients with pancreatic tumours:

1. Tumours which are greater than 20mm (2cm) in size, as these are most likely to spread soon, and many surgeons will operate on them pre-emptively.
2. Evidence of tumours already having spread, usually to the liver in the first instance (often accompanied by jaundice).

An MRI scan can be very unpleasant, as the machines are claustrophobic, uncomfortable, and, for abdominal scans, require occasionally difficult breathing exercises. Of course, they are also extremely loud, but competent technicians should give you sufficient ear protection. Given this, I was pleased to be told at the hospital today that their ‘new’ and ‘slightly more advanced’ scanners have halved the time it takes for the particular scan I needed – I was in and out in 20 minutes.

It will be about a week before my results are passed on to my endocrinology consultant, though I don’t have an appointment scheduled with her until May. I may well chase the results up in a couple of weeks, but I think it will be safe to assume that no news is good news – I think even my forgetful doctors would get in touch with me as soon as possible if my tumours had grown significantly or had metastasised to another organ! With any luck, the scan will be fine and, physical symptoms being well, I’ll have the all-clear for the next year and can get on with my degree uninterrupted.

Over at nature.com, on their blog Soapbox Science, David Ropeik has written about ‘cancer phobia’. From the point of view of a consultant in risk perception and communication, he astutely demonstrates that cancer is not necessarily the horrifying monster it would once have been, but the word ‘cancer’ nevertheless retains its frightening punch. And because the word still carries such psychological weight, many people are driven to great anxiety and even to unnecessary medical treatments though their condition is easily treatable and manageable.

Take Ropeik’s example of prostate cancer, where he quotes the U.S. National Institutes of Health (NIH):

Although most prostate cancers are slow growing and unlikely to spread, most men receive immediate treatment with surgery or radiation. These therapeutic strategies are associated with short- and long-term complications including impotence and urinary incontinence.

Approximately 10 percent of men who are eligible for observational strategies (keep an eye on it but no immediate need for surgery or radiation) choose this approach.

Early results demonstrate disease-free and survival rates that compare favorably (between observation and) curative therapy.

Because of the very favorable prognosis of low-risk prostate cancer, strong consideration should be given to removing the anxiety-provoking term ‘cancer’ for this condition.

In other words, prostate cancer is a condition that we can deal with much better than we could just a few decades ago, but the very word ‘cancer’ sets people in a frame of mind that leads them to tackle the problem more aggressively than is necessary. This is all thanks to a fear of cancer having successfully seeped into the public consciousness more than with any other diseases. A Harris poll discovered that 41% of people in the U.S. fear cancer more than any other medical condition, compared with 8% who fear heart disease most even though heart disease is actually the bigger killer. ‘Cancer’ is more viscerally loaded with connotations of fear, pain, and death.

Of course, our advancement in some cancer treatments does not detract from the fact that many cancers are still inoperable and incurable. But cancers are killing less and less, and people are starting to question the psychological effect that a ‘cancer’ diagnosis can have on patients who have very good prognoses. So let’s not take our eye off the ball in the ongoing effort to cure cancer, but let’s also not let ourselves get carried away with visions of unstoppable trauma if we hear the ‘c’ word.

Skeleton of Charles Byrne, the 'Irish Giant', in the Hunterian Museum

In Multiple Endocrine Neoplasia type 1, pituitary tumours occur in around a third of patients. Often, these secrete excessive amounts of hormones, with the most common type being a prolactinoma (the type I have). A rarer kind, somatotropinomas, overproduce a growth hormone which in turn causes a condition known as acromegaly.

In recent years, it has been determined that ‘Irish Giant’ Charles Byrne (1761-1783) had such a tumour, causing the immense growth of his skeleton. In his case, the pituitary tumour was caused by a different condition called Familial Isolated Pituitary Adenoma (FIPA), as his condition was hereditary (familial), but no other glands in his body were affected (isolated) as you would expect in MEN (I am currently writing an information booklet on FIPA for AMEND, as the Pituitary Foundation has apparently shown little interest in the genetic disorder. Hopefully I’ll have some news on that in the coming weeks).

Byrne, from County Londonderry, stood a little taller than 7ft 7in, and found fame exhibiting himself as a “freak” in London. At the age of 22, he died at his home after having taken to drink. Intriguingly, he requested to be sealed in a lead coffin and buried at sea, but John Hunter – the renowned Scottish surgeon after whom the Hunterian Museum at the Royal College of Surgeons is named – bribed one of Byrne’s friends to acquire the body and boiled it down to the skeleton.

Since a few years after Hunter died and his collection was acquired by the RCS, the skeleton has been on display at the Hunterian Museum. However, as an article in the Guardian reports, experts in law and medical ethics have suggested that the skeleton finally be laid to rest at sea:

What has been done cannot be undone but it can be morally rectified. Surely it is time to respect the memory and reputation of Byrne: the narrative of his life, including the circumstances surrounding his death.

The Museum has refused to do so, stating that the skeleton remains important both culturally and in terms of research, especially as the skeleton has been key in recent discoveries about FIPA. I can’t understand this reasoning, though. As the ethicists have pointed out, the DNA has already been extracted and can be used again without the original skeleton; it is likely that some current patients with acromegaly would participate in research while living and leave their bodies to science in death; and, for the sake of a cultural display, a synthetic copy could be made, which is not unusual. Although they seem to have no rational defence for it, the Museum’s response is simply this:

The Royal College of Surgeons believes that the value of Charles Byrne’s remains, to living and future communities, currently outweighs the benefits of carrying out Byrne’s apparent request to dispose of his remains at sea … At the present time, the museum’s Trustees consider that the educational and research benefits merit retaining the remains.

Steve Jobs

I found out just today that Steve Jobs had a particular type of pancreatic cancer that is rare and behaves atypically, but will be familiar to many MEN patients. The tumours are called insulinomas (which happen to be the kind that I had), and, as the name suggests, as well as being abnormal growths they also produce excessive amounts of insulin. This can lead to all sorts of problems with low blood sugar, but it is their potential to spread to the liver and other organs that is of most concern. Still, strangely enough, it’s a kind of pancreatic cancer that is curable.

Usually, pancreatic cancers are very aggressive and hard to treat, with one of the worst prognosis rates of any cancer. However, pancreatic cancers that secrete hormones – such as those found in MEN and other rare cancers such as Steve Jobs’s – are classed as NeuroEndocrine Tumours (NETs). Although these can also be malignant, they are typically slower growing and less aggressive. An early surgical removal (though possibly leading to diabetes and other digestive issues) can usually cure you, but Steve Jobs sadly didn’t take this treatment early enough, even though it was available to him. An interesting article by the BBC explores why Steve Jobs didn’t opt for surgery when it could have saved his life.

Simon Doherty, who writes the blog Do I Have Primary Hyperparathyroidism? has put together a useful list of such surgeons in the UK.

How much money should we be paying for radical healthcare? Image by Nick Ares

The controversy surrounding Stanislaw Burzynski and his unproven treatments has been lighting up the internet this week, but it’s not a new issue. Josephine Jones has a useful post listing all major commentary, and it points out that Burzynski was written about in 2006 by Saul Green, Ph.D., and in the Houston Press in 2008. The story just happens to have gained popularity this year because of Marc Stephens’s outrageous emails threatening people with legal action despite the fact that he was employed to provide the clinic with “web optimisation services” (a press release yesterday suggests he has lost his job due to his extremely unprofessional behaviour – and don’t be fooled by the release’s apparently impressive list of research supporting Burzynski’s treatments; Jen McCreight pulls it apart nicely).

But while Burzynski’s methods are raising red flag after red flag – all of these being astutely pulled apart by the skeptical community – there is a more immediate, more damning ethical scandal that is being largely ignored in all the talk about science: regardless of its effectiveness, patients should not be paying anything for Burzynski’s treatment because it is part of a clinical trial.

His therapy is not approved by the FDA and so must be offered as part of ongoing research, and not only is it unprecedented to pay the exorbitant amounts of money Burzynski demands for a trial (such as this family trying to raise £200,000), it is unusual to pay at all - many researchers actually give money to patients to get them involved. It’s true that regulations in the US are far looser than in the UK, so doctors are free to pass on research expenses to the patient, but it is still uncommon and always ethically questionable. Sense About Science mentions this, Cancer Research UK does too, and it is commented on in most detail by Professor Dorothy Bishop.

And yet many suffering families are still raising these ridiculous sums of money through charity and giving it all to him. The problem is obviously not just one of individual desperation, but of a wider misconception of US and UK healthcare because newspapers are taking it for granted that it’s fair for Burzynski to ask for so much. I think this is probably because, in the UK, we have an overly simplistic idea of US healthcare in that, because they don’t have a national health service, everything must cost everyone a lot of money. This is in turn coupled with a false and damaging mistrust in the NHS to offer radical but effective treatments – either because of stagnant bureaucracy or governmental stinginess – and so our only option is to have hope in overseas treatments advertised as futuristic miracle cures, priced accordingly.

In many of the comments to news articles and blog posts about this affair, it is clear that the public is not well-educated on how scientific research is supposed to be conducted. Thankfully, some blogs (such as the one by Cancer Research UK) do a great job of informing people about what good research is and how it brings about successful therapies (including to the NHS!). But raising awareness about the scientific method is a difficult, long-term struggle as people find it counter-intuitive to think that seemingly miraculous anecdotal evidence actually counts for nothing.

In order to have a more immediate impact on the activities of Burzynski and other doctors like him, I think we must try to not get too distracted from the more immediate ethical scandal of charging patients these ludicrous amounts of money. In so doing, not only is Burzynski likely lining his own pockets and scamming the patients themselves, he is also duping the many thousands of people who have donated to these families’ causes. So remember: whether or not treatments offered in the US work as effectively as they are advertised, the fact is that people should be paying nothing for them if they are part of a clinical trial. It is only through a misguided, pervasive doubt in our own health service that such outrages go unmentioned in the pages of newspapers, and that doctors are able to take astronomical advantage of uninformed, vulnerable families.

Blackpool Tower, image by Ingy the Wingy

In an act of misplaced charity this evening and tomorrow evening, the popular comedian Peter Kay is performing in Blackpool, raising money for Billie Bainbridge, an extremely ill four-year-old girl with brain cancer.

Her situation is terrible. Her doctor described her tumour as of the worst kind in the worst possible place, and she is likely to die within two years. So, of course, when the family became aware of an apparently pioneering treatment in the USA, they simply had to do everything in their power to get there, despite the treatment costing £200,000.

Peter Kay is not the only one helping the family – there are a number of celebrity connections being called upon, and the local community has come together to raise as much money as possible. There is also a website devoted to their cause, which, as of this moment, states that £174,557.48 has been raised. But where exactly is this money going?

I first became aware of the family likely being the victims of a cruel scam when I saw Ben Goldacre trying to get people to tweet Peter Kay en masse to bring his attention to what seems to be fraud. Then I saw a damning article by ‘Le Canard Noir’ on The Quackometer which deserves some solidarity because the writer has been threatened.

After a series of posts, Le Canard comes to this conclusion:

… the £200,000 being raised looked like it was earmarked to send little Billie to a clinic in Texas to enrol in a trial that was using an unproven and questionable form of urine-based treatment.

I wrote about my concerns with this and how this might be giving false hope to a vulnerable family and how it may be funnelling money to an unproductive cause. Dr Burzynski, who runs the clinic, is not allowed to treat people with cancer with his unproven antineoplaston therapy. His is, however, allowed to enrol people in trials. And he does so, and charges them hundreds of thousands of dollars. He has been doing this for over 30 years without producing the substantial evidence from these trials that would convince the scientific community that he has an effective and safe treatment.

After having published these concerns along with another blogger, Josephine Jones, the probability that this is all a heartless scam increased when Le Canard was sent a series of emails demanding him to delete his posts on the supposed basis that they were libellous. However, the unprofessional, threatening tone of the emails, as well as the fact that their author, Marc Stephens, is labelled as working in ‘Marketing & Sponsorship’ on Burzynski’s website, suggest that these are illegitimate scare tactics. Le Canard is not the only one who has been subjected to this treatment.

‘Dr.’ Burzynski is not only slowly and painfully destroying the lives of Billie’s family by giving them false hope with a false treatment, he has committed an act of great shame against every single person who has devoted time and money to the family’s cause. As Le Canard astutely summarises in another post:

It’s a powerful media myth that special American cancer clinics can provide miracle cures for cancer when the NHS cannot.

——————————

Update (25/11/11): Cancer Research UK weighs in on the issue.

Dr. Lisa Sanders

The New York Times has a health blog called Well, written by Tara Parker-Pope, which occasionally has posts contributed by Lisa Sanders, M.D., called ‘Think Like a Doctor’. In these posts, some unusual case notes are published (with patient consent) and readers are invited to try to diagnose the condition via the comments. This week, there was a mystery about excruciating stomach pain which turned out to be caused by MEN1.

The knowledge of the readers and the number of correct guesses (or close ones, such as MEN2) were reassuring, but I think it’s worth clarifying a few issues. Take a look at the case notes first if you can, but here’s a brief summary of the clues anyway:

• A healthy 29-year-old man wakes up with excruciating pain in the lower right side of his abdomen.
• The pain had occurred on-and-off over a period of years, but never so severely.
• A blood test the previous year indicated a raised blood calcium level – a problem that had been shared by the man’s father.
• He had permanent red spots (angiofibromas) on his nose.
• His father had died of lung cancer; his uncle died of a pituitary tumour.
• The patient’s ensuing chest X-ray was clear.

With the helpful hindsight of knowing that the man’s condition is MEN1, the first clue to set alarm bells ringing ought to be the hereditary excess calcium, which must have been caused by hyperparathyroidism (tumours on 1-4 parathyroid glands). In the comments, a person diagnosed with isolated hyperparathyroidism (so not MEN1 or any other genetic condition) wondered how many parathyroids the man might need removed, and whether or not it is even possible to remove them all. Sanders responded as follows:

I don’t know how surgeons determine how many to save but he will have some parathyroid tissue left to regulate his calcium. Thanks for the clarification.

This isn’t necessarily true. In many cases, despite the genetic basis of MEN1, it may not be necessary to remove all four parathyroids, but there is a distinct possibility that all four glands will be affected, and so must be treated. Sometimes, a surgeon may remove 3-and-a-half glands, leaving half of one in (either in the neck or transplanted into the arm), hoping that it will still function normally. However, should the gland fail – or, as in my own case, should the surgeon simply remove all four glands completely – the patient’s body will not be able to regulate their calcium levels, and so they will have an incurable condition called hypoparathyroidism. In this case, the patient must stick to a strict regime of calcium and vitamin D supplements for the rest of their life.

There is a more striking error in Sanders’ write-up about the patient’s diagnosis, though. After a genetics test for MEN1 had been sent off, the patient had scans of his pituitary, parathyroids and pancreas, which revealed a clear pituitary, but a number of small pancreatic tumours. About this, Sanders said:

So far, the tumors in his pancreas are too small to do any damage — and there’s a good chance they will stay that way.

And what about the abdominal pain that brought him to the doctor’s office in the first place? How does that all fit? Once Dr. Tangalos had the results of the blood test, it seemed obvious enough. It was a symptom of his high calcium … Current thinking is that the abdominal pain is a result of gas and constipation, two common problems in patients with high levels of calcium in their system.

I’m unaware about the current thinking in relation to isolated hyperparathyroidism, but in a case of MEN1, any abdominal pain should be taken much more seriously as most likely caused by pancreatic tumours. Sanders makes the mistake of thinking that their small size renders them harmless, but the key thing about multiple endocrine neoplasia is that, because these tumours grow on endocrine glands, they very often secrete hormones. It is not their size and not their (limited) potential for malignancy that cause damage; it is their excessive secretion of hormones.

The most common type of pancreatic tumour in patients with MEN1 is a gastrinoma, and this fits the symptoms. Other types are possible, such as insulinomas (which I had), but these are comparatively rare. It is also worth bearing in mind that even if the pancreatic tumours were non-functioning (and so did not secrete hormones) there is about an equal chance of them doing no more harm as there is of them turning malignant and spreading. Any lung cancer in the family is likely to be due to metastasis from the pancreas, as there is no precedent for an endocrine disorder to affect the lungs. It is therefore current practice with MEN1 patients to remove any pancreatic tumours greater than 20mm in size (the tumours on the other endocrine glands always being benign).