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Behind the headlines on the variant CJD scare - some thoughts on the other tragedies involved.

Press release/Commentary - 15 August 2003 (A slightly edited version of this release appeared in the NZ Herald Dialogue column 15 August).

A very unfortunate young man lies gravely ill in Waikato hospital with a serious neuro-degenerative condition. The country nervously waits on tests for variant CJD. Damage control is activated to avert any link to New Zealand's beef produce.

If you observed that initial public comment on this turn of events was mostly about markets and the value of the dollar, you would not be too far from the truth. True, there is also genuine concern about the possible implications for others. It may well be from an infectious source, rather than an inborn genetic predisposition the young man may have to one of many severe neurological conditions. That prospect of food-borne illness is scary for all of us.

But if it does turn out to be an inherited genetic condition, such as an atypical sporadic CJD, a chronic inflammation of the central nervous system, or even something less likely such as an atypical late-onset Tay-Sachs or Batten disease, there will be an almost audible sigh of relief around the country. Of course that response will be justified from an economic point of view, and for the avoidance of the incipient public health problem. But such an outcome would mask several other tragedies.

Firstly, the young man will have few but his family and medical staff left to worry about his fate. If his condition ceases to be a concern to society, he will cease to be of concern to society. Secondly, thoughts of trying to fully understand and control the genetic condition will be rapidly relegated and forgotten, if the tests show it is inherent in the individual, and not a risk to others.

The reasons for this are clear, if not palatable. There are over 9000 rare disorders that are largely attributable to the genetic makeup of the individual. If you get one, it is because you have the genes that inevitably bring it on, or you have a genetic predisposition that combines with some environmental trigger to set the disease on its course. Many of these rare diseases are not well understood, and often difficult to diagnose. Treatments are much rarer. Cures can be written on the head of a pin.

But some are well understood. Some could be prevented right now through enhanced screening and faster diagnosis. Some could be treated effectively with innovative but expensive medicines. With greater commitment to research, the burgeoning knowledge of the genetic cause of many diseases could lead to treatment for many more in the near future.

This leads to one obvious question: Why does public health policy and research funding always seem to concentrate on more common diseases that affect larger numbers of people - even when the consequences of some of the common diseases are much less severe than many rare ones?

There are several answers to this question, and they serve to underline the tragedy of rare "orphan" diseases, the ones nobody seems to want to know.

Politics is a key consideration. The will of the majority is anticipated and greater resources are directed to the wider interests. Most people with rare diseases are not visible to politicians and policy makers.So many of them die before they reach voting age that the political case is further compromised.

Economics is another problem. Big pharmaceutical companies are increasingly geared to shareholder returns, and less driven by past attitudes of magnanimity. Cynics be informed - there are many examples of drug discovery in the last half of the 20th century where intellectual property was given away freely to speed the benefits to patients worldwide. Penicillin and polio vaccine are two good examples.

Unfortunately there are more recent examples of those same companies, under different corporate philosophies, rejecting development of beneficial treatments for rare diseases, in favour of continued searches for more blockbusting drugs like the three Vs: Valium, Viagra and Vioxx.

There is a rich irony in that the more we know about the causes of disease, the less likely these companies are to invest in treatments for the potential new targets affecting relatively few people. The new era of small innovative high-tech biopharmaceutical companies may be the salvation here, but can they do it alone? Witness the struggle of PPL and the reluctance of Bayer to continue the support of its transgenic innovation.

The will of the majority plays its part too, in discrimination by numbers - the tyranny of the majority over the interests of the few. If we had the same public demand for screening, prevention and treatment of severe rare diseases, as we have for shortened waiting lists, or waiting times at the Emergency department, there would have been much greater progress made.

Non-infectiveness counts too. If you want your disorder to be attended to promptly in terms of research and treatment, and strategies to control or eliminate the risk, ensure you have one that is infectious and poses a risk to the wider public. Conversely, the worst thing you can do is inherit the gene that makes the disease a risk just to you and your immediate family only, leaving you in the "too few, too hard, too bad" basket.

But every problem has a solution, or possible progress towards one. I would not depress you with this dilemma if it was insurmountable. The answers include:

• A rare disease research policy, just like the ones they have in North America and Europe, that puts dedicated funds towards understanding rare diseases.
• An orphan drugs policy to deal with funding of innovative and high cost drugs with enormous health benefits, but for very few people. This should not be in the same budget process that allocates arthritis relief and birth control for tens of thousands.
• Prompt implementation of tandem mass spectrometry to expand by nearly four times the number of genetic conditions that can be detected at birth, and allow intervention to treat or manage the condition. Screening for hearing defects in all newborns could also vastly improve interventions and outcomes for children at risk.
• Accelerated implementation of pre-implantation genetic diagnosis so that when a serious genetic condition is detected in a newborn baby, subsequent pregnancies in the family can be assured free of the same condition.
• A public health policy that incorporates genetics into its framework and seeks to control and minimise the consequences of genetic risks.
• And last but certainly not least, a significant improvement to genetic education for professionals and the public alike, so we are all more able to respond to the knowledge that is growing rapidly around us.

Now that wish list is something that an initial investment of about $50 million could start to make a significant dent in. But I hear multiple voices cry in unison: $50 million? Unrealistic. Unaffordable. Unjustified - and other superlatives, no doubt.

A bit of perspective is required:

• Rare genetic disease and birth defects cause one third of all deaths in the first twelve months from birth. That's over 120 babies per year from these (non-infectious)causes.
• The government recently invested $200 million in a new meningococcal vaccine to save an estimated 23 people per year from this (infectious) disease over the next 15 to 20 years.
• The sum of all rare diseases in New Zealand is a "common" problem. About 10% of the entire population will be affected by one of the 9000 rare diseases in their lifetime.
• And dare I mention the boat race and $30 million? I support that investment for economic reasons. I would also support investing on a slightly grander scale in the neglected health needs of up to 10% of our population.

The suggested investment is really small beer when the number of people affected, and the consequences they have to bear alone, are considered. More eloquently it can be put that the predominant ethic in health policy should be the obligation to actually do what has become possible to do. It is time this 10% of the population had their day in the sun.

Whatever the final diagnosis is for the unfortunate young man in Waikato hospital, the tragedy for him seems profound and probably unmanageable. The continuing tragedy for our whole community is that the opportunity to get better control of rare disorders is left unanswered, when increasing numbers of them can be managed.

John Forman
Executive Director