Talk:Rare disease

It

It is hard to say what a rare disease is, and this is a problem with the pending deletion of the related List of Rare Diseases. Take Behçet's disease for example. In the United States only 15,000-20,000 people have been identified with it. The diagnosis of the disease is much lower as many symptoms (eye problems, joint problems, ulcers) have to be pieced together before the thing is found, and it takes many years to develop. It has a higher incidence rate in parts of Asia/Europe too. Sabar 09:24, 11 June 2006 (UTC)

Are they putting rare diseases and orphan diseases together for the sake of this article? 01:19, 25 May 2022 (UTC) OhioGirl42986 (talk) 01:19, 25 May 2022 (UTC)

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Something is wrong with the definition: "An orphan or rare disease is generally considered to have a prevalence of less than 5% affected individuals in the society." A disease that affects even 1% of the people in a population is a very common disease, likely to be dealt with every week by a general practitioner. But what does "less than 5% affected individuals in the society" mean? I've never heard a formal definition, but most physicians would reserve the term rare for something seen once or twice or less in an average career of general practice. A disease like that would probably have a prevalence of 1 in 100,000 individuals but that definition still includes thousands of reported diseases. Alteripse 03:54, 9 May 2004 (UTC)

From what I have been reading orphan diseases are diseases that have maybe one or two patients in the world that have it and the reason they are considered orphan is because it would not pay a drug company to try and get drug research money for a rare disease with one or two patients. 01:23, 25 May 2022 (UTC) OhioGirl42986 (talk) 01:23, 25 May 2022 (UTC)

Does the term refer to a particlar region or globally? "Certain infectious diseases" could be common in one country but rare in the country to which the traveller returns to - and eg Sickle Cell Anaemia. Jackiespeel 18:29, 15 January 2007 (UTC)

As an epidemiologist, incidence is preferable to prevalence since prevalence is comprised of both incidence and survival - patients who survive longer with a given disease will be part of a prevalence that is higher than for a disease which is either swiftly fatal or readily cured, whether by medicine or by the person's immune system. Further, our concern about rare diseases apparently varies according to whom is affected. Rhabdomyosarcoma is a very rare cancer, but because it affects children, there's quite a bit of research on it. --Dan (talk) 16:49, 16 January 2009 (UTC)

While the logic of your argument is undeniable, the fact is that all the sources concern themselves with prevalence. WhatamIdoing (talk) 17:58, 2 July 2009 (UTC)

NIH' Office of Rare Diseases

I've created a template to simplify markup for this external link to the NIH's Office of Rare Diseases (ORD) - see Template:RareDiseases, which takes as parameters the Disease ID Number and optionally also alternative text (i.e. the Disease's name) to display. David Ruben ^Talk 13:40, 25 April 2007 (UTC)

External links

I usually leave a specific note about inappropriate external links that I remove from articles, but there's no major theme here: dead links, links with basically no information at them, links that are only tangentially related to rare diseases, and massive duplication of efforts. Please, please go read the guidelines at WP:EL before re-inserting links in this section. You can also get help at the doctor's mess if you want.

Of course, if there's a single link that you think would be interesting or informative for the average reader (imagine a student writing an essay for a school assignment), then please feel free to propose it here, on this talk page. If several editors think it's reasonable, informative, appropriate, and compliant with the usual guidelines, then of course it could be included. WhatamIdoing (talk) 22:09, 3 May 2008 (UTC)

Wikipedia has some guidelines about what external links are considered appropriate and which are not. The rules are at WP:EL and WP:MEDMOS. "Unique social hubs" are not appropriate links for a Wikipedia article. Internet chat rooms, discussion forums, social networking sites, etc., etc., are not wanted. Please quit adding that link. WhatamIdoing (talk) 03:39, 30 May 2008 (UTC)

Definition

The two sentences in the lead each seem to give a different, but possibly overlapping definition. Can we combine these into one definition? Are all conditions defined as "rare diseases" necessarily life-threatening or chronically debilitating, as the second sentence suggests? What is meant by "special combined efforts" and why are they a corollary of low prevelance? As leads go, this one has just fallen short of the "written in a clear, accessible style" test for this layman. -- Timberframe (talk) 14:02, 28 April 2009 (UTC)

Thanks for your comments. The first sentence is the usual rule of thumb. (A variant [older] on that rule is that a general practice physician would only see one such case in his/her entire career.)

The second is a specialized definition for a particular program. There are other such specialized definitions, and it might be better to move it to a section dealing with the variety of definitions. The "special combined efforts" is the bureaucratic equivalent of the last section in any standard journal article, and its plain English meaning is "Please give my department more money". WhatamIdoing (talk) 17:55, 2 July 2009 (UTC)

Thanks for the explanation. I feel that I've had it explained to me now, but haven't grasped what was said. The first bit makes sense to this simpleton, and perhaps that's where we need to start and finish the lead in order to make it comprehensible to a wide readership. We could then go on to how the concept applies to various specialised circumstances. Writing the latter is way beyond me but perhaps I could serve you specialists as a lay proof reader. -- Timberframe (talk) 22:37, 2 July 2009 (UTC)

I did a little work on it today; please let me know what you think.

As for the first sentence, it's a remarkably common definition (and really the only one, before the US federal law was passed in 1983), but I'm not sure where to find proof of that. If you have any sourcing ideas, please feel free to share them. WhatamIdoing (talk) 23:04, 2 July 2009 (UTC)

Dead weblink and redundance

The weblink nr.6 (the one which should lead to this certein drug act) is dead. Besides I noticed that both the section 'prevalance' and 'characteristics' have a quiet similar sentence speaking about the fact that some diseases are only rare among children... Otherwise a well-comprehended article! --85.176.141.182 (talk) 14:34, 18 December 2011 (UTC)

Orhpan disease = Rare disease?

Currently, Multiple Sclerosis affects between 2 and 150 per 100,000 according to its Wikipedia article. However, there's always a shortage of funds for research and the most effective treatement for it, an interferon drug named Avonex, costs my sister around $1600-$2000 per month, for one injection per week. (Thank God for medical insurance and Medicare!) By the standards of this article, it's not quite a rare disease, but it's often referred to as an orphan disease because very few people are aware enough of the issue to help, and most charities simply ignore it. This might look like I'm trying to guilt people into donating, but I'm not. I'm only suggesting that diseases that are finding it hard to raise funds simply because the public either isn't aware of it or don't understand how badly they need money shouldn't be lumped in with a set of otherwise unrelated disorders that aren't being studied much only because they really are rare. I'm not in a position, right now, to create a new page because I don't know enough about the subject to do the job the way it needs to be done, so I'm tossing this out in the hope that somebody who does will be inspired to do what I think need doing.JDZeff (talk) 00:51, 12 June 2012 (UTC)

Removed "orphan disease" as synonym to "rare disease" - they are not the same. MS is not a rare disease (it is not rare) but is an orphan disease (there is no approved treatment). Hope this clarifies. — kashmiri ^TALK 08:47, 15 April 2016 (UTC)

Thank you for that you cleared up a lot for me! OhioGirl42986 (talk) 01:25, 25 May 2022 (UTC)

Orphan drug movement

First appearing in 2009, under the section heading Relationship to orphan diseases, is the following statement:

The orphan drug movement was begun in the United States.<http://malattierare.regione.veneto.it/inglese/dicosaparliamo_ing.php>

"Orphan drug movement" as a phrase does not appear in the text of this above reference. While user:WhatamIdoing may have known at the time the sentence was inserted (July 2009) what this means (and may still know), I sure do not. I wonder if it is even possible to write an article about the orphan drug movement, so entangled are orphan drugs with the hugely monied pharmaceutical industry and the globally complicated funding of individual and social health care. Beyond identifying a specific piece of U. S. legislation, I furthermore doubt that the broad and vague statement about the "movement" originating in the US will hold up to the test of time.

GeeBee60 (talk) 13:05, 11 June 2018 (UTC)

It might be possible to write an article about the orphan drug movement, but IMO it is more pointful to include the history of that movement in related articles, such as orphan drug and this one.

A "movement" – a political movement, in this case – is a common word used to communicate concisely what the source says: That "This process, started in the United States" "show[s] the necessity to evaluate exactly whole rare diseases’ impact on population and health services: it constitutes, in fact, the multiplying factor of all available actions and facilitation in rare diseases management" and obtained the "research and welfare systems" needed by affected patients and their families.

That said, that source (the website for a regional rare disease organization), though technically reliable, may not be the best that we can do. That the political pressure to do something about people dying from rare diseases first manifested in the US is not a controversial claim, and it would likely be very easy to replace the source with a more recent and more authoritative-sounding one, such as this paper, which says "The “orphan drug-movement” is believed to have been initiated only recently with the Orphan Drug Act of 1983 in the United States of America". WhatamIdoing (talk) 19:08, 11 June 2018 (UTC)

It seems misguided to date (create) an "orphan drug movement" based on a piece of legislation, any more than one would date the beginning of the abolition movement with the Slavery Abolition Act of 1833 (Great Britain) or women's suffrage movement with the passage of the 19th Amendment (US). While occasionally legislation arises directly from a legislator, usually there are years of behind-the-scenes lobbying before a legislator even considers pushing forth any proposal. Because this is an "Act", legislation may have been absent but there would have still have been extended behind-the-scenes lobbying, scrambling, and preliminary documentation within and outside of the enacting department / agency.

When it comes to drugs and healthcare, in almost all countries there is some government oversight; where health care is publicly managed and orphan diseases covered, there might be no movement because there was no need. Thus, I remain skeptical that 1983 marks the beginning of this "orphan drug movement". GeeBee60 (talk) 19:07, 12 June 2018 (UTC)

It doesn't really matter whether we think that's reasonable. Firstly, the sentence in question says nothing about the movement having initiated in exactly 1983, and excluding the efforts that directly led to this particular piece of legislation. Secondly, your personal skepticism is not a reliable source. Naturally, if you can find sources that say that it did not originate in the US, then please provide them; we could then adjust the article to say that most sources say that it began in the US, but some sources claim that it began in ancient Rome, or wherever else they care to name. WhatamIdoing (talk) 07:02, 9 July 2018 (UTC)

Actually, the claim is not properly sourced. The Orphanet article is an OR article, also it does not quote sources for the claim, so it should not form a basis for encyclopaedic information. The other source (Italian website) does not mention any such "movement" at all. Besides it is also badly outdated, likely having been created in early 2000s. I will go BOLD and remove that statement – feel free to restore once a RS is identified. — kashmīrī ^TALK 16:35, 9 July 2018 (UTC)

Yes, personal skepticism is not a " reliable source". But it very much is a motivation for research. My disagreement is not simply with the placement of this "movement" in time and space, but with the declaration that there is a movement at all. Here the burden falls not on the skeptic but on the promulgator. While there are a multitude of orphan drugs (and diseases), the contention that a movement exists lacks clear evidence. I support kashmīrī's decision to delete the passage. GeeBee60 (talk) 22:44, 17 July 2018 (UTC)

Inconsistency between this page and ribose-5-phosphate isomerase deficiency

This page states that ribose-5-phosphate isomerase deficiency is the rarest disease and links to its page. The page for ribose-5-phosphate isomerase deficiency says it is the second rarest disease and calls out the Fields Condition, which does not have a Wikipedia page. This page should be updated if the Fields condition is in fact rarer. 100.2.228.140 (talk) 03:07, 5 January 2022 (UTC)

Celebration of Rare Disease Day - On which date?

The article dosen't mention on what day we celebrate the Rare Disease Day which is 28th of february for non-leap years and 29th of february for leap years. Or prehaps i am blind and i didn't bother to check out? Anyways, the date is chosen to symbolize the rarity of these diseases, as the last day of February is also the rarest day of the year in non-leap years.

For more info can be found on [1]https://www.rarediseaseday.org/ Luigi Cotocea (talk) 15:07, 29 February 2024 (UTC)

@Luigi Cotocea It does say " the last day of February", but perhaps that's a bit subtle! I'll see what I can do to improve it.... (Having already put a banner up on my personal FB page today!) PamD 15:12, 29 February 2024 (UTC)

And I've made a similar clarification at Rare Disease Day. PamD 15:19, 29 February 2024 (UTC)

Thank you for taking notice of that, clearly we couldn't miss it entirely. And besides we all felt sorrow during COVID-19 when they celebrated Rare Disease Day on 29th of february in 2020, because people were dying at that time and yet coronavirus wasn't rare. But either way, we didn't had a cure since it wasn't tested on the pacients yet. And guess what 4 years later very little about coronavirus is heared nowdays. Luigi Cotocea (talk) 10:28, 28 July 2024 (UTC)