I witnessed an intriguing Twitter conversation between Christy Collins and Greg Biggers about disease names, so I asked Christy to write up her thoughts. It is an honor to host this guest post:
By Christy Collins
When I started an advocacy and research organization for my daughter’s rare genetic syndrome, I thought I would spend my time collecting data, maybe starting a biobank for biological samples, setting up a non-profit, and fundraising.
Instead, I spent a significant amount of the past year on the name of the syndrome.
In January, a paper was published that proposed the third name for this syndrome since its first description in 1997. I had an instinctive and personal reaction to this because nomenclature confusion contributed to my own daughter’s initial misdiagnosis. I am not alone. Every time I ask if this is an advocacy issue affecting all of the patient families in our community, I get a resounding “yes.” And when I asked a broader community of advocates, I heard many varied stories of problems with syndrome names.
It shouldn’t be too controversial to say that the purpose of a name is to serve as a stable placeholder for talking about a thing. We are well into the internet age so this could be extended to say that it’s also for searching for a thing. This issue of multiple and changing names is an enormous problem for anyone trying to research a condition, including clinicians and care providers, as well as for those trying to maintain searchable databases.
For most of modern medical history, syndromes and diseases have been named after a researcher that first described the syndrome. These are called eponymous names and you can see a long list of them on Wikipedia.
From my vantage point dealing with our ever changing name, this seemed like a pretty good system to me, but it turns out there are sometimes problems with it:
- Some researchers are prolific disease identifiers resulting in multiple diseases with the same names and little in common.
- Sometimes the researcher turns out to be monstrous.
- Sometimes two to three names are chained together to create an unwieldy name.
- The nationality of the researchers can influence where an eponymous name is used so that it is used only in the country or region that the researchers are from.
Of course, this system of naming also feeds the egos of researchers, which may have both pros and cons for the patients that depend on them. Greg Biggers, founder of medical research startup Genomera prompted this post by asking:
It is time to stop naming diseases after physicians who ‘discover’ them. If need to name after a person, how about a sufferer? Seriously.
— Greg Biggers (@bigs) August 19, 2012
I am happy to see any discussion of disease and syndrome nomenclature, and especially where patients are so respected. Using patient names would have some of the same potential problems raised by using scientist’s names, and probably others that are not immediately obvious, but perhaps patient names should be in the mix of choices for syndrome names. Another option is place names, though the residents of the named place may not feel so flattered.
In recent years the medical research community has moved away from eponymous naming, replacing it with descriptive names. There is a good summary of the reasoning here countered with an argument for the value of eponymous names here. Note that neither mentions patients.
Part of the reasoning for moving away from eponymous names is still about researcher credit: once the disease is discovered, researchers who make significant contributions over time are still toiling in the shadow of the discoverer. There is also a notion that a name should describe the condition so that clinicians have some clue about what they are dealing with just from the name. Another convention that is being adopted is naming for genetic defects, which give you names like “1p36 deletion syndrome”, and doesn’t tell you anything descriptive about the condition.
These newer conventions of naming have been widely adopted, but I don’t believe their effects have been well considered. The following are names that use the newer conventions of genetic and descriptive names:
- 22q11.2 deletion syndrome
- 1p36 deletion syndrome
- pseudoxanthoma elasticum
- tricho-hepato-enteric syndrome
- neuronal ceroid-lipofuscinoses
- macrocephaly-cutis marmorata telangiectatica congenita
- popliteal pterygium syndrome
To the vast majority of therapists, nurses, primary care physicians and even many specialists, these names will require research just the same as an eponymous name would. Even if a care provider thinks that they know something about a rare disease or syndrome, they should be looking it up for the latest information about it, unless it happens to be their area of expertise and they have their head in the latest research all of the time.
These descriptive names pose additional problems that researchers may not prioritize, but are important to patients. They are difficult or impossible to both spell and pronounce for the average person. That may sound trivial unless you are one of the people whose life has been taken over by one of these unspellable and unpronounceable conditions. What if you can’t even say the word? What if you work hard to be able to pronounce it, but your family and friends can’t?
Description can be an unreasonable burden to place on a name. If you are going to name something when it is first encountered, there are going to be things about it that you don’t yet understand. There will be things that you think you understand but will turn out to be wrong.
It is a bit like naming a baby “Sucks Toes and Coos” and then realizing when he is four years old that that name doesn’t really suit him. Now you decide to call him “Loves Buzz Lightyear” and are up the creek again in a few years. You should have just called him “Matthew” from the beginning and then over time adjusted your expectations about what the person “Matthew” is.
This happens with descriptive names. The descriptive name turns out to be inaccurate, or it excludes an important subset of cases, or someone thinks that they have another set of words that provide a refined description. The result is multiple names.
There is currently no body overseeing the naming of genetic syndromes. A name is proposed in the research literature, the research community either adopts it or doesn’t and there is a period of uncertainty while consensus is or isn’t reached, and there’s no defined point in time when that happens. As far as I can tell, patients have no say in the matter, but may suffer from the ensuing chaos.
Consideration of the needs of patients could be a guiding light in nomenclature decisions. Rather than contributing our eponymous names, patients should be called on to contribute their point of view. How do patients use names, what functions do we need them to serve? These are not abstract or philosophical questions for patients.
And so I ask: What do you think? Where do we go from here?
The problem discussed here is significant for patients – directly, as described here, but also indirectly, as the use of different disease names may lead to complications when a physicians seeks evidence on e.g. novel treatment methods.
I recently co-authored a paper (http://www.ncbi.nlm.nih.gov/pubmed/21775021) that adresses the use of different terms for bacteraemia in the scientific literature. We found that the terms bacteraemia, sepsis and bloodstream infection are used interchangeably in research papers, which potentially leads to the omission of important research when searching for papers on the subject. I believe the points adressed in our paper supplement the problems described in the above post and the conclusion in both cases is that more strict or at least more uniform nomenclature would benefit the patients; but also the physicians, clinicians and researchers working with the various diseases.
I appreciate you saying this. It makes perfect sense that this would be a problem for researchers as well, though I have been told by some that this is “not a big deal”. I worry that it is a big deal for my daughter’s syndrome, but I don’t have any direct experience or evidence to say that it is.
I’ve been told that the newer papers will be tagged with the old names, but do the old papers get tagged with the new names?
I am glad to see your paper addressing this, even though the specifics are a little different.
It is hard to give a general reply to this, as it can vary greatly, and none of the existing solutions are perfect. I will try to give a little more detail here…
One of the primary databases used to search for medical research is PubMed Medline, a database containing references to about 20 million research papers maintained by the U.S. National Library of Medicine (NLM). The NLM enriches every single record with subject-words (called MeSH-terms) describing each paper, so it should be possible to retrieve it again, no matter if the authors of the paper use a different name for the disease. In addition, it is possible to look for different spellings and sub-meanings – it is a very good system. The problem is that this indexing is a) not perfect and b) not used by all users (e.g. doctors) of the system.
Studies (e.g. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2213463/) have shown that a large number of literature searches in PubMed don’t use the MeSH-terms – perhaps it is due to lack of time, education or inappropriate MeSH-terms.
In summary: yes, there is a huge effort from both doctors, researchers and librarians to bridge the gap created by ambiguous nomenclature, but the system is far from perfect.
As a “professional patient” myself, I can relate to this in so many ways. Years ago I was diagnosed with a vasculitis that is still undergoing name change debacles* (the original “discoverer” also had a sorted and horrific past) and to this day doctors, family members, etc. still misname and misidentify the terminology.
*More here = http://ard.bmj.com/content/70/4/704.extract
I see that paper was published in January 2011. Have either you or your doctors adopted this new name? I think it’s interesting that they’ve presented it as an “alternative” name rather than a name change – it’s like: “here it is if you’d like to use it”.
I realize that this is slightly peripheral to the main point of the article; but wanted to add a quick note on naming diseases after patients. I’m dead against it. My surname (Hartnup) is rare, but there is a disease named after my family because a Hartnup was the first diagnosed sufferer of that disease. My surname is now forever associated with renal and urinary problems. A Google search on my name will mainly bring up disease references. It’s not a big deal; but not particularly pleasant!
It sounds like medicine needs to adopt some sort of Linnaean system whereby diseases can be systematically classified, and named accordingly. Plants and animals can have a wide variety of ‘common’ names across languages and cultures, but the Latin name is always the same.
Not peripheral and very interesting! I believe Greg did wonder if this would be ok with patients. I’m not sure if we considered their descendants. It seems like this could have just as well happened to you if your relative had been the discovering researcher instead of the patient.
To follow up on Ruth’s comment, naming after a patient presumes that it wouldn’t be an issue for people who share the same last name but not disease – so it’s not simply an issue for descendants, but also strangers.
Separate from that would certainly be a concept of genetic privacy, wouldn’t it? After all, say Catherine and Michael Brooks* have a child, Stevie, who has some rare genetic disease. Researchers isolate and determine that it’s inherited, and from Michael’s genetic contribution. By naming it Brooks Variant Genetic Disease Whatever, after a patient, then you’re revealing potential medical information for Michael’s family, who may not be so keen on that. (And how far out would you have to go, for family connection, before “permission” wasn’t need?)
At least when things are named after a researcher, it’s an acknowledgement of discovery, rather than a description of malfunctioning genetic code.
There is at least one example of a disease being referred to a famous patient – Lou Gehrig’s disease also known as Amyotrophic lateral sclerosis (ALS). I think it does a lot for advocacy groups and may help with general awareness, but its not any more helpful in describing the actual disease. I agree that naming any disease after a specific person causes more problems than it solves.
I am the Executive Director of Foundation that funds $12M per year in rheumatic disease research. Although we are not a patient support organization, I can see how see how some nonprofits would use a patient’s name to create awareness and advocacy (i.e. Michael J. Fox), but it does not belong in the name of the disease. I am sure there are probably some people today who say to their doctor: Who is Lou Gehrig anyway?
Great article, and wonderful summary of the challenges.
One uncommon twist to the conversation: my son has Coffin-Lowry Syndrome, named for the two doctors who first identified it, as was the convention at the time. Yet having to deal with a label for my child that contains the word “coffin” (and the syndrome is sometimes life-limiting) certainly creates subtle but very real challenges for me. I love that we’re raising this issue now.
Cristin, just want to tell you how strongly I empathize with your comment.
I have a son with 1p36 Deletion Syndrome and I also am the president of the non profit group 1p36 Deletion Support & Awareness. The discussion of the syndrome name comes up in our group every year or so and you do a great job of talking about the different issues. We are lucky, in a small way, that the descriptive name for our syndrome is relatively short. Yet in many research papers it is called Monosomy 1p36.
For families it seems to boil down to one thing, how does it help my child. Whether your child has a syndrome that has a descriptive name or an eponymous name or is 1p36 Deletion Syndrome or “Bob’s syndrome”, the name of the syndrome does not tell friends and family, physicians or researchers anything about your specific child. I believe I would have to explain my sons syndrome to people no matter what it is called but changing it a this point would not help anything.
I don’t think there is a simple or uniform answer to how you name a syndrome and you sure aren’t going to please everyone. But the debate is good.
Nice article! “Diabetes” is interesting– it was named in the 2nd century AD using an Ancient Greek term that means “to siphon,” a description of one of the symptoms (excessive urine). The second part of the name, “mellitus,” means “sweet” to describe the taste of the urine. Nice bit of historical interest in how diabetes used to be diagnosed– by tasting urine!
Now there is controversy over the types of diabetes– the main types being type 1 and type 2, which are often confused (type 1 is often autoimmune and often shows up in childhood; type 2 is often associated with obesity and insulin resistance). However there are non-immune types of type 1 (type 1b) and not everyone with type 2 is overweight– some even have antibodies like in type 1. So distinguishing between the types is not always clear.
There are many other more rare types of diabetes as well. But they all have the symptom of sweet urine (except for diabetes insipidus, which involves excessive urine that is not sweet).
So in the case of diabetes, I think that the name (easy to pronounce and descriptive) is not bad, although the types may need work. However, some kids hear they have “diabetes” and they just hear the “die” part and think they are going to die. That could not have been foreseen in AD 200!
Sarah, all this talk of sugar in the urine, and children’s concerns, combines with my irreverence in word play to wonder – couldn’t we call it Sweet Pea Syndrome?
Now my comment truly is peripheral—actually tangental—to the disease naming conversation but I think relevant.
Yours is a fascinating glimpse into language in medicine that hasn’t occurred to me because my life has never intersected with medicine in this way. However, after the in-many-ways-wrong terminal hospitalizations of each of my parents in 04/05, as I began pondering the questions of how to really die in peace and how to advocate in hospital, I identified language as a root cause of the disorientation with, and in which we begin a hospitalization. The book I wrote begins with redefining terms—terms which remain in common use today (trouble is that citizens and providers define the terms differently). But, as you know, terms and names frame behavior and potentially outcomes. In my case I doubt, despite my meager lobbying, that people will stop using terms that don’t serve them; too ingrained.
Christy,
Great post on a great topic. Not to further confuse an already confusing issue, but disease-naming will be tricky for at least another reason, and that is there is no “one size fits all” disease, except in the cases of known Mendelian diseases which may or may not have the same mutation responsible (and may of may not cause the exact same phenotype in different individuals). Most disease names are 19th or 20th century attempts to classify individuals with similar symptoms into the same disease category, which in more cases than not does not provide proper healthcare. For more on this, check out my new blog post on rheumatoid arthritis genetics which explains my point in detail:
http://bitly.com/LqWI1C
As you know from following me on Twitter, we are now beyond one size fits all disease care (#PM101) and this requires us to move beyond one size fits all disease descriptions (“names”).
My perspective is certainly about rare genetic disorders. In our case, giving a name to a phenotype is enormously helpful. I have wondered about this in regards to something like autism though – but I don’t think I’m well informed enough to write about it clearly. I’m not sure that I would have suggested abandoning names though, will have to read your piece for more clarity on that.
Thanks for the article. I am so sick of articles like “The Name Game” or campaigns like the “Same Name Campaign” that are directed at families and individuals with these conditions. In my experience, it is an unnecessary dividing line among professionals, patients and organizations. Let the professionals present and publish and stand up to professional and patient scrutiny. The people who need to be educated regarding the name are usually the professionals, first & foremost. Diagnosis, treatment and awareness are usually foremost in our mind and the re-naming and name change issues are usually an unnecessary distraction. Follow-through is important – like making sure all the care systems know about the name(s) and connections too – from what schools teach, to coding in government, healthcare, insurance and educational systems. I like the idea of a new system developed to name newly identified conditions & genetically-based syndromes.
My name is collin perry. I am 26. I have charcot marie tooth disease. I have always disliked the name because it is long and awkward. This website is now being used as a reference in my advocation for shortening my disorders name to simply: Charcot. Thank you. I hope the charcot marie tooth association and myself can transition into a more understandable, and manageable name so that my disorder garners the attention and support it so desperately needs. Thank you for being here.