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 [1].

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 essentially 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, many of the disturbing, and almost all extremely typical from my own view and experience. That community tends to believe they actually relate to the problem as they think that what they see is what is the problem. And from that ungoverned unguided visual impression, 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 [2]. 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.
  • Neither the long-term problems of chronic overuse issues, nor the psychological burden of visible disability, are covered in any of the available official offerings of specialists, technicians or prosthetic industries. The devices without exception look ugly, or questionable, and none seem to survive a single week of truly hazardous work. Normally, as arm amputee, you will suffer a very itchy, burning and serious friction rash after 1/2 h to 2 days of active use of your prosthetic arm, after that, you may need to recover for a few days and let the skin heal. That is about where it is at at the current moment.

Some direct problems pertaining to prosthetic research and results also contain these:

  • A prosthetic gripper should be fitted for specific relevant purposes that are usually not considered. "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 towards military and space exploration uses, and that result in no benefits for the disabled community.
  • The designs and devices offered are often not optimized and well built. Instead, "prosthetic industries" try to make profit by charging exorbitant prices for outdated and old repackaged technology that may be regarded as alpha- or beta-versions but not refined finalized products, using tax-payer and insurance-payer paid money, significantly diminishing the actual empowerment for amputees.
  • Marketing rather than development seems to be a focus for companies. So, 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 attempted that in fact society provides useful solutions for upper extremity amputees. Media hypes underline, emphasize and deepen this impression. All the while, the "customer service" of these companies actively discourages negative product feedback, and actively avoids dealing with negative consumer feedback.
  • 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.
  • No end-user-relevant academic research is performed, and too little per-case money left for each patient to cover actual need, so a typical prosthetic arm has a quality that does not justify its purchase to begin with.
  • Amputees are the butt of the joke, all the time, in the past and in the future: all industrial and academic developments as well as media hypes will invariably result in the credibility of amputees being reduced wherever we appear, whatever we do - we are made to look ridiculous no matter what - and that is the direct result of what academia and industry did, do, and will do.
  • Extremely relevant issues are actively suppressed or ignored. Three extremely wide spread and extremely serious issues for amputees are chronic overuse, depression and body image problems. Chronic overuse may be remedied only once all hazardous activities can be actually mastered with a prosthetic arm. The thing is that no prosthetic arm built with normal commercial parts even delivers robust long-term support for light to medium activities, leave alone hazardous activities, i.e., highly repetitive or heavy / physically demanding. Also, the devices are not made to make the wearer feel great, instead, they often pose problematic reliability, fit and function. Tragically but unfortunately to no big 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 me 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 clearly in the Orphan Disease spectrum, under 1 / 50 000. That is also why friends don't let friends buy Otto Bock's.

Some recommendations [3]:

  • 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 [4].
  • 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 [5].
  • 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 the 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.


[1] 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

[2] Orphan Drug Act - CONGRESSIONAL FINDINGS FOR THE ORPHAN DRUG ACT- http://www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/Overview/ucm119477.htm

[3] http://msf.openrepository.com/msf/bitstream/10144/28441/1/Access%20Trouiller%202002.pdf

[4] 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.

[5] 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.

Cite this article:
Wolf Schweitzer: swisswuff.ch - Orphan Disease - term, significance, consequence [statistics and insurance rant]; published 23/03/2011, 13:17; URL: https://www.swisswuff.ch/tech/?p=388.

BibTeX: @MISC{schweitzer_wolf_1638596220, author = {Wolf Schweitzer}, title = {{swisswuff.ch - Orphan Disease - term, significance, consequence [statistics and insurance rant]}}, month = {March}, year = {2011}, url = {https://www.swisswuff.ch/tech/?p=388} }

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