Orphan Disease - term, significance, consequence [statistics and insurance rant]
There exists such an entity such as Orphan Disease or Rare Disease. These are defined based on their prevalence related to slightly differing numbers:
- Prevalence of less than 1 in 1'500 people (USA; Rare Diseases Act 2002)
- Prevalence of less than 1 in 2'000 people (European Union; EUROPEAN COMMISSION for HEALTH & CONSUMER PROTECTION DIRECTORATE-GENERAL - Directorate C - Public Health and Risk - Assessment - C2 - Health information, PDF)
- Prevalence of less than 1 in 2'500 people (Japan; Japanese law)
An estimate for our local prevalence can be assumed from a Norwegian study with upper limb amputees containing 11.1 persons per 100'000 population of which around 43% had a forearm amputation, effectively rendering prevalence estimates for below elbow amputees around 1 in 50'000 persons .
With that, below elbow amputation issues share some rather interesting characteristics with issues of other orphan diseases that I find worthwhile mentioning.
Below elbow amputation issues contain these characteristics:
- Residing definitely within the ball park of rare and orphan diseases at least statistically speaking, below elbow amputation issues are unknown to most doctors or other people in many aspects.
- Tricky problem is, that below elbow amputation is quite visible. This appears to cause a range of reactions in the not-affected community. That community tends to believe they actually relate to the problem as they think that what they see is what is the problem. And they seem to know what is best for us, and that is also expressed. That, in each given instance, may just not be the case. Roboticists and other people that just (visually, non-empathically) look, examine, stare, will eventually conclude that all the amputee needs is hand replacement to fix things. Maybe, however, we need to learn that these people are disabled in their own right - they do have a deep and serious understanding disability that prevents them from comprehending.
- There is no reasonable expectation that the cost of developing and making available a treatment for such disease or condition will be recovered from sales of such a treatment . Yet, many people want to first protect their innovation and then try to sell it off to get rich or die trying. They fail to see that prosthetic parts are a service industry to the disadvantaged. It serves as portfolio opportunity, it definitely is great support, it is highly relevant for amputees - but in terms of marketing and business, we need to consider Orphan Disease models to provide relevant insights.
Some direct problems pertaining to prosthetic research and results also contain these:
- "Prosthetic hand" is a term relatively widely abused for academic research projects that siphon off tax-payer or other public money from actual prosthetic research and that result in absolutely no benefits for the disabled community.
- "Prosthetic industries" try to make profit by charging exorbitant prices for outdated and old repackaged technology, using tax-payer and insurance-payer paid money, significantly diminishing the actual empowerment for amputees.
- Instead, major sums withheld from industrial research and development are poured into marketing of products such as Touch Bionics' iLimb or Otto Bock Michelangelo - and the general impression is created that in fact society provides useful solutions for upper extremity amputees. Media hypes underline, emphasize and deepen this impression.
- Measuring tangible benefit of a particular prosthetic solution is complex at best. Weighing solutions according to unclear outcome measurements is an impossible task. End of Day Feeling to subjectively judge prosthetic performance overall - appearance, function, comfort - is really just an approximation.
- All three result in no tangible academic research, and too little per-case money left for each patient to cover actual need, so instead of three prosthetic arms not even one can be financed, and that product has a quality that does not justify its purchase to begin with.
- All industrial and academic media hypes will invariably result in official credibility of amputees being reduced - unless they wear bionic high tech.
- Extremely relevant issues are actively suppressed or ignored. Two extremely wide spread and extremely serious issues for amputees are depression and body image problems. Tragically but unfortunately to no surprise, the Austrian Otto Bock poster boy Christan Kandlbauer had been equipped with the very latest gadget arms and all efforts were made towards that, but he killed himself. Tragically but to no surprise, Otto Bock customer service - when I confronted them with faulty product dimensions - did not apologize or otherwise acknowledge my distress and problems but threatened with legal action. As another interesting example, Otto Bock financially supports amputee fetishism. Given all that they are not people to turn to, to trust, to place trust in. This is truly not how people act that do understand issues - that in my personal view is cynical, exploitative, arrogant and ultimately confrontatively non-understanding behavior towards clients whose complex issues reside in the Orphan Disease spectrum. That is why friends don't let friends buy Otto Bock's.
Some recommendations :
- Patents are really useless in this domain. Patent life actually has increased in the last 20 years but they only serve one purpose: market monopoly incentive and market monopoly. When market prospects are largely absent, monopoly incentives are irrelevant. Patenting solutions only makes sense to prevent warped monopoly players to slow down competition .
- Research must necessarily be government initiated. Research must be needs-driven. A well defined, pragmatic, needs-driven research and development agenda is needed to assist policy makers, funding agencies and the research community in setting priorities .
- There is a need for research and development networks, and focused capacity and technology sharing.
- There is a real imbalance between rights and obligations for the private sector. The public provides patent incentives and - in prosthetics - tax and insurance payer funding, but has little say over the research and development agenda. Governments can and do oblige industry to do necessary research in other sectors, so why don't they do it in prosthetics.
- Reducing some problems of the below elbow amputee community to problems of far more frequently occurring disabilities will be a practical advantage. Stroke victims that require one handed operation of utensils or tools, elderly people that cannot open marmalade glasses - all these force developments that also help us.
 Adult acquired major upper limb amputation in Norway: prevalence, demographic features and amputation specific features. A population-based survey. Kristin Østlie, Ola H. Skjeldal, Beate Garfelt and Per Magnus. Disability & Rehabilitation 0 0:0, 1-14
 Orphan Drug Act - CONGRESSIONAL FINDINGS FOR THE ORPHAN DRUG ACT- http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/Overview/ucm119477.htm
 This website contains descriptions of most of my own innovations to actually make my body powered arm useful. No patents had to be bought for that - all that was needed was dedicated research, development and testing. It included getting advice from other industries.
 Proof of where current prosthetic projects go wrong is still not given explicitly. As readers here may not see that as a given, it may be good to provide such an overview.