Vimizim strikes Morquio

For all the clue in the title I could be off with a D20 and a silly hat in a role playing game with a bunch of specky-four-eyes teenage nerdniks. Vimizim sounds like a benign wizard who could use white magic [roll D20 twice] to slay the evil troll Morquio if the latter would only stand still.  But you'd be way off track because Vimizim is another drug with a damn-fool name and Morquio is a syndrome of almost invisible rarity but notably distressing symptoms.  All these symptoms cascade from the fact that a key enzyme is missing from the biochemical repertoire inside lysosomes. Lysosomes are teeny-teeny-tiny vesicles inside each teeny-tiny cell of your body where they act as a recycling and processing centre for a range of chemicals that have reached their sell-by date. Each of these surplus chemicals requires a specific enzyme or a whole pathway of enzymes to degrade it. Science knows quite a bit about the function of these enzymes from what precisely goes wrong when they are missing. We've met Tay-Sachs before, which is caused by a defective hexoaminidase A [-ase is for enzyme] so certain fatty molecules called gangliosides accumulate inside neurons until these essential nervous cells pack up and die. It's very distressing and the Jews of New York have a developed a stern but effective system of genetic typing and strong advice against certain boys getting certain girls pregnant in order to minimise the incidence of having children with Tay-Sachs born into their community.

There is a whole other argument I've touched on about Jonathan Irwin, his deeply handicapped son Jack and the setting up of the Jack and Jill Foundation to facilitate parents and carers who draw a short straw in the neonatal / genetic lottery and have to cope with, and care for, a child who will never be able to care for himself. The story of Jack Irwin's short life and how it transformed his immediate family and the local community to bring out the best in them all is an antidote to the glib answer that it would be better if he'd never been born. The State gets ever more officious in its dealings and diktats: we are forbidden to do an ever more intrusive list of things. Irish people can't build a house or sink a well or own a dog without permission. But the state won't step in to help with the care and maintenance of the least and least able of its citizens; with that parents are on your own except insofar as a charity like Jack and Jill can allocate you some respite or carers hours. Incidentally, last week the golfer Rory McIlroy won The Irish Open and gave the purse to Jack and Jill and a couple of other charities.  It translates as 20,000 contact hours for the 300 children in the J&J orbit.

In contrast to Tay-Sachs, Morquio is missing a different lysosomal enzyme which normally breaks down Glycosaminoglycans GAGs or mucopolysaccharides. These build up in quite unexpected places and one of the distinctive symptoms is cloudy corneas. Another is that the bones don't grow properly but the other organs do, so that the heart and lungs are squeezed into a diminutive ribcage and cannot develop or function properly. Unlike Tay-Sachs, all of whom have gone back to heaven within a handful of years, Morquio people can live for decades although most of them succumb much earlier.

Morquio is in the news just now because Vimizim - an artificial replacement that can make up partly for the enzyme that is missing in the genetic lottery - secured FDA approval in 2014. It was the first drug to receive a  Rare Pediatric Disease Priority Review Voucher: its approval is being expedited because sick children make the FDA look so bad. The FDA appro only says that, on balance, Vimizim is a) safe and b) works.  It doesn't say anything about how much it should cost. Bringing a new drug to market costs, with all the scheduling and clinical trials and testing, between $500 million and $1billion. That's why drug companies need Venture Capital: they have to upfront that amount before they ever sell product.  Morquio is much rarer than TB, malaria or Hepatitis C virus.  The cost of developing drugs against those conditions [if it ever happens!] can be amortised across millions of people so the cost per dose is accessible.  Not to the truly indigent of Africa, who are most likely to suffer but to white folks who travel.  For a really rare disease like Morquio, the development costs must be recovered from such a small baseline that the cost per year per patient is astronomical. €400,000 /year in the case of Vimizim.

I think the reportage on RTE has been dishonest and tendentious. They only sent out a reporter to bother the youngest of the five (5!) people with Morquio in the Republic because other expensive drugs are in the news [recently on The Blob]. Anchoring the cost of drugs in this way, makes it looks like a mere €150k is a snip which the new minister will surely approve for reimbursement. But these €150Ks add up! I heard on RTE that Pembrolizumab is being budgeted at €60million [just for this one drug] as an extra line-item on the budget for the Health Service Executive. The HSE overspent its budget by €600m last year and has been ticked off and told to balance its books, so they can't pay.  Simon Harris, the new Minister of  Disease Health, put out a platitude that decisions to use drugs should be "clinician led". But clinicians love sexy treatments from the frontiers of science: they'll always give it a go rather than tell the rellies that there is nothing they can do. Doing dull dirty preventive medicine is not why they endured six years of Med School.

We live in a society where 'adversarial' is the method of choice. Justice is dealt to those who can afford the better / louder / cleverer lawyer. Each year, in the run up to the national budget, the cabinet gets round their table and each minister fights his/her corner.  This effectively prevents joined-up thinking with a holistic outlook on society's problems.  The solution to patients writhing on trolleys in Accident and Emergency A&E departments is not solved by recruiting more A&E triage nurses; but it might be solved by building government nursing homes for end-of-life palliative care, or to house low intervention recovery beds. If that's too expensive, what about a more effective system of social welfare workers who can monitor the infirm in their own homes? Welfare and Health are the two biggest, most voracious gobblers of tax-dollars but they are different empires who are at war rather than allies to finding the most efficient solutions.