Another of the great untold stories of this community is how we have helped to increase awareness of SCLS, thereby encouraging recognition of this illness and the administration of helpful episode-management and preventive treatments.
When I first looked up information on SCLS in early 2006, there were dozens of medical articles reporting on the phenomenon, but they provided little insight into the syndrome, and weren’t of much help in terms of coping with it. Moreover, the articles were mostly all brief clinical observations of individual cases from which it was difficult to generalize, and there were no reports of clinical trials or laboratory research on SCLS.
There was no mention of the illness in medical encyclopedias, the highly reputable websites of the U.S. National Organization for Rare Disorders, the Mayo Clinic, the U.S. National Institutes of Health, or their equivalents elsewhere in the world – and there wasn’t even an entry for SCLS in Wikipedia. I remember becoming discouraged: it was bad enough that I had a rare disease, but did it have to be one so exotic that it wasn’t even listed in the leading rare-disease databases and websites? Fortunately, I and other SCLS patients became motivated to do something constructive about the lamentable situation.
Poor awareness of SCLS within the medical community meant that patients would frequently go two or more years without receiving a correct diagnosis, thus being exposed to inadequate or counterproductive therapies for their death-defying episodes. This unfortunate situation was illustrated by the personal tales of woe supplied by the early members of our RareShare SCLS community, whether in their profiles or their comments in this Discussion Forum section.
And yet these misdiagnosed, poorly treated patients were the relatively lucky ones, because despite having emerged with disfiguring scars, physical disabilities, and mental anguish, they had managed to survive their episodes. The truly unlucky ones were the unrepresented patients who had died during their first episodes, and my guesstimate is that in those early days (early 2000s) of little awareness of SCLS among physicians, we probably lost a significant proportion of SCLS patients to incorrect diagnoses and improper treatments.
This has all changed for the better in recent years, and our RareShare community has played a constructive role in this outcome, to the benefit of existing and new patients. Whereas in the decades prior to 2006 there had been 75 medical articles published mentioning SCLS, since 2006 nearly twice as many such articles have been published – and they are better articles, because they build on prior basic knowledge, examine the performance of cohorts of patients over time, or include the first results of novel biomedical research.
It is several years now that SCLS is described in medical encyclopedias, the websites of the U.S. National Organization for Rare Disorders, the Mayo Clinic, the U.S. National Institutes of Health, and their counterparts elsewhere in the world, and there is now an informative entry for SCLS in Wikipedia, which in turn has generated other mentions of SCLS on the Internet. In many cases this is the result of my own prodding of physicians I’ve been in contact with, or even my own ghostwriting, including for the Wikipedia entry. But parallel contributions were made by several early members of this virtual community, and also by others who aren’t members, who volunteered to shed their privacy rights and appear on medical TV shows, local newspapers, or else to post videos and other informative commentary about SCLS on the Internet. Every one of these disparate efforts helped the cause.
Nowadays most patients seem to be diagnosed during or after their first – or at most second – episodes, after which they are fast-tracked to the best treatment available – the administration of immunoglobulins. They think they have it bad, but they have no idea how much better off they are relative to those who had our first episodes in the early 2000s (or before) and had to wait long for a proper diagnosis, and then for effective treatment (which many didn't receive before they died).
And yet, we still lose some patients going through their first episodes of SCLS, as illustrated by postmortem medical articles published so far in 2018, like this (about a deceased young female in Germany) and this (a deceased middle-aged female in the United States). It is a lamentable fact that SCLS is still killing first- or second-time patients, or is still disfiguring and/or disabling survivors – mainly because too many physicians fail to make the right diagnosis early on.
One technical obstacle to the diffusion of knowledge about, and appropriate treatment of, SCLS is that the syndrome has not had a unique ICD number assigned to it. The International Classification of Diseases (ICD), which is sponsored by the World Health Organization (WHO), is a tool for recording, reporting and grouping conditions and factors that influence health. It has become the international diagnostic classification for all general epidemiological and many health management – including physician and hospital billing – purposes. The current version of the ICD is the 10th edition and is known as ICD-10; countries have been adopting it since 1999, with the United States doing so in 2015.
Because SCLS has no unique ICD number, when physicians and hospitals treat a patient with SCLS, they enter a non-specific code like 10-I78.8, “Other diseases of capillaries,” or else they enter 10-I78.9, “Disease of capillaries, unspecified,” into their billing and reporting records. In doing this, however, healthcare providers create billing inconsistencies and reimbursement difficulties; make it impossible to identify and track SCLS patients; and prevent easy matching of condition-specific diagnosis, research, and treatments with the appropriate patients.
Therefore, two years ago I launched an initiative to get SCLS an ICD number for the next, 11th edition, which the WHO is expecting governments to approve and roll out starting in 2022. (A first version of ICD-11 was released this June.) To make a long story short, the WHO decided that SCLS is too rare an illness to deserve a unique code of its own, but at least it has been added to the list of identified conditions under “Diseases of the Circulatory System” (Chapter 11), “Diseases of Arteries or Arterioles,” “Other specified diseases of arteries or arterioles,” where SCLS will be listed as one of the options under 11-BD5Y. (Search for it here.) This is certainly a better outcome than for SCLS not to figure anywhere within the ICD classification, which is the situation we have now.