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Putting
patients first: Visions for European Health Care. Date: November, 16, 2004 By: Larry Winger (Note from Webmaster - XLH Network in the following report refers to the name given The XLH Network Inc. prior to incorporation March 2, 2005.) The advent of 'gene-based medicine', or specific medication tailored to an individual patient's genetic characteristics, has been loudly trumpeted. Less widely appreciated, however, is the corollary that this sort of approach will have the effect of turning every individual person in Europe into a 'rare disorder.' If your medication is to be supplied to you yourself uniquely, then by definition both that specific approach and you yourself, are exceedingly 'rare'. So before we all fall over ourselves in the queue for medications tailored for our own unique genetic make-up, it may be useful to consider what strategies have been developed over say the past decade, to cater for those whose disorder has been identified, classically, as 'rare.' In fact, unless you are dealing with an absolute life-threatening illness, the biomedical-pharmaceutical community's record is not good on the rare disorder front, despite the constant efforts of groups like EURORDIS and its genetics advocate affiliates, in their pursuit of a sort of Orphan Pharmaceutical legislation parallel to the American NORD model and the Genetic Alliance. I'm a volunteer for a worldwide organisation I helped set up some seven years ago, dealing with a chronic disorder that is as old as pre-history, as rare as coelocanths, and as misunderstood as EU commissions. Children with X-Linked Hypophosphatemia, or Vitamin D Resistant Rickets as it used to be called, do not respond to the Vitamin D which by the 1930s had cured most rickets cases, and subsequently has helped prevent much distress as an added vitamin supplement. Although the return of the 'Victorian scourge' is loudly touted in the popular media these days, following up expressions of some concern from professional clinical societies, so successful has community-wide supplementation with Vitamin D been, that XLH (even at its estimated frequencies of 1:20,000) has been reliably considered as recently as 2 years ago [1] to be the most common form of rickets that a paediatrician in the industrialised world might see in their practice. One might have thought, therefore, nearly a century on from maximal benefit to the normal population, that such a 'common' 'rare' disorder would be benefiting from enlightened diagnosis, understanding, management and prognosis. Why then, has our specific support network (xlhnetwork.org) grown steadily (50-60 new subscribers a year, now moving beyond 450 members) for the past seven years? One obvious reason for this growth in our online volunteer network is that this disorder is still not managed well enough, and the coalescence of patients not satisfied with their treatment is a natural outcome of this inadequacy. Indeed, within the past decade, neither Orphan Pharmaceutical legislation in America, nor follow-up contacts by NORD with the pharmaceutical company under whose auspices a potential adjunct therapy had been developed, have elicited further production of this medication, because the licensee is disinterested and unresponsive. We of the XLH Network now await, with some profound interest, new biotechnology built around the latest bio-medical research on phosphate homeostasis (24th ASBMR Abstracts 2003) and bone mineralisation (25th ASBMR Abstracts 2004) . But how will market forces and this sort of 'rare disorder medicine' actually interact? It's a potential win-lose scenario that should give pause to those who proclaim the benefits of this sort of individualised tailoring of newly developed treatments. That's because a complementary reason for a worldwide community aggregation around a single health issue is that management of rare disorders is intrinsically challenging for a medical-pharma community that has built its service on understanding and treating large (market-driven) cohorts of normative response, rather than individuals with unique responses to treatment. Some clear attention is going to have to be paid to developing a capacity to deal with individuals as specific instances of rare disorders. Peering into the 'connected' future, it may be that professional delivery of appropriate medical management will require, as opposed to merely patronising, the participation of specific patient support networks, instead of foundering on a haystack of individualised patient 'needles' that no single clinician could hope to accommodate, even with the best reference summaries. Indeed, it seems inevitable that future 'rare disorder' individuals will call today's visioneers in healthcare to account if specific patient support networks are not now funded appropriately. Support networks for rare disorders like ours operate today on a virtual shoe-string, with contributions culled from individual families' capacity for charitable offerings. But on such a shoe-string, these networks can offer a comprehensive, worldwide community of experienced patients to welcome new members (who constantly remark on their sense of isolation heretofore) with a variety of personal anecdotes, broad empathetic shoulders to lean on, reassurance that a particular care plan is either appropriate or should be challenged, and direct contact with cutting-edge research. A useful vision of European healthcare that puts patients first would incorporate the notion that unique as an individual's health management might be, they have a right to access to quality peer support networks that will serve a community of individual needles isolated in clinical haystacks around the world. In order to ensure access to good quality support, it seems obvious that these networks should be encouraged whenever they arise. The administration and coordination of these specific patient support networks must not be subsumed merely by desperately self-sustaining charitable enterprise, but rather this volunteer effort should be specifically directed to the best understanding of the disorder, and empowered communication with its members. As individualised healthcare programmes develop in the future, then minimum financial facilitation for any newly emerging, parallel patient support networks, subject to certain standards, should, in an enlightened world, be a natural expectation. Given that NORD lists some 1100 rare disorders in its current database, and reckoning that support networks for 'individualised medicine cases' may grow tenfold as medicine individuates over the next decade, a specific small grant programme administered by the EU, providing subsistence of 1000 euros per annum per network, to finance the creation, administration and coordination of specific networks supporting people with these individualised needs, would require only a small annual investment from the EU growing from an initial fund of perhaps 1 million in year one to 10 million Euros after ten years. Such a near-trivial investment literally in 'putting patients first' would go a surprisingly long way towards facilitating the best sort of empowered health programme within the context of a European vision of healthcare for the future. References: Larry Winger, PhD, PGCE Short Personal Biography: Contact Information: Last modified Apr 17, 2008 XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spotaneous dental abscesses, and low blood phosphorus levels.
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