I started this SCLS virtual community a decade ago, in June 2008, so I think now is an appropriate time to celebrate this decade-long achievement by sharing some reflections on how far we’ve come and where I see us evolving in the future.
I had my first, devastating episode of what turned out to be SCLS in November 2005, shortly after I celebrated my 56th birthday, and I was very lucky to be diagnosed properly right after.
At the time, being diagnosed with SCLS was pretty much like getting a death sentence, the only unknowns being when “the episode to end all episodes” would come, and how much pain, suffering and disability one would have to endure in the meantime. It also meant great disruption of one’s ability to hold a job, because of the episodic nature of the syndrome and its debilitating and disabling consequences, with negative repercussions also on one’s family and friends.
In the months that followed, I got in touch with Dr. Philip Greipp, then a professor of medicine and hematology at the Mayo Clinic, who was the person most knowledgeable about SCLS in the United States. He had seen almost twenty patients during his long professional career, and he had published about SCLS on three occasions.
My doctors had previously reached out to him for advice on how best to treat me -- at the time (2006), the standard of care was to prescribe high doses of theophylline and terbutaline, medications with terrible mood-altering and other side effects -- to prevent, or at least minimize, the episodes typical of SCLS. A retrospective review of the Mayo Clinic’s experience with twenty-five SCLS patients managed mostly with theophylline and terbutaline, which was published in 2010, stated that only one-fourth of them experienced a "sustained" (defined as at least two years’) remission of symptoms -- meaning, three-fourths of patients went on to have still more episodes.
But I contacted Dr. Greipp for another reason: to tell him that I very much wanted to reach out to other SCLS patients he had met, for the purpose of exchanging information and finding community with them, and thus I asked him to pass on my contact information to the patients with whom he was still connected. And this he did: in the months that followed, Dr. Greipp gave my name to Judith (Judy) Davis (judithdavis3), a pediatric nurse from Baltimore, and she and I met in person and became friends, and in subsequent months we followed up with other Greipp-referred patients like Marianne (from Cincinnati, Ohio), Russell (from upstate New York), and Glenn (from North Carolina), with whom we stayed in contact via phone and email.
However, this small group of fellow SCLS patients would soon fall apart, because Marianne, Russell, and Glen who would go on to die in late 2007 or early 2008 from SCLS-related episodes or complications. Their death brought home to us our own mortality, and Judy and I felt very lonely -- as if we were the last two SCLS patients left on this planet -- and no matter how much we tried to comfort one another, we knew that in order to find some answers, and to bolster our emotional sanity, we had to find another way to get in touch with other survivors of SCLS in the United States and beyond.
A ray of hope opened in May 2008, when I got an email message from RareShare’s founders inviting me to explore and use the newly launched platform rareshare.org. I have no idea how they got my email address, but as soon as I checked out the site, I decided to start an SCLS virtual community as a means of reaching out to other SCLS patients around the world. And of course, Judy joined right away, and for a while I would post something and she would post a comment, or else she would post something and I would post a comment.
Incidentally, the platform that is RareShare was built from scratch in early 2008 by two generous, idealistic men in their twenties named David Isserman and Eric Steele, on the thought that there should be a better way to bring together rare-disease patients, families and healthcare professionals to share knowledge and personal experiences and find emotional support. They never intended to make any money from this platform (e.g., by selling advertising space) -- and sure enough, they never did.
[In 2014, Isserman and Steel transferred the rights to RareShare to the Rare Genomics Institute (RG, see here) and moved on with their lives. The new owners, principally Dr. Jimmy Lin, president and CEO of RG, then underwrote the new and improved version of the RareShare platform we now enjoy, built by gallant volunteers that he recruited, which was rolled out in March 2017].
Within a few months, Judy and I were joined by a handful of SCLS-afflicted people which included Wendy Peterson and her husband (and patient) Nolan (nwbsaw), from a small city in Idaho; Claude Pfefferlé (claude53), a patient who is also a physician based in a small city in Switzerland; Josée Lizotte (josee), from a small town in northwest Quebec; and Jeff Isenhour (jisenhour) from the Washington DC area. (More on them and their important role later.)
Dr. Greipp was kind enough to join in -- to lend us his moral support, mainly. The community’s humble but hopeful origins were chronicled in an article that appeared in early 2009 in the Health section of The Washington Post available here.
It took two years that seemed an eternity -- namely, until June 2010 -- for membership in this SCLS virtual community to take off and reach 100, among them about twenty confirmed patients, and that was quite an accomplishment. After all, SCLS is exceedingly rare -- it is estimated to be a one-in-a-million condition -- and most of the world's inhabitants do not read English, many still do not have access to the Internet, and quite a few have not yet discovered, or have not wanted to join, this community.
Over the past decade, our RareShare virtual community has turned out to be successful beyond my most optimistic dreams. And I measure success not just by the relatively large number of members (about 350) we have attracted, which is quite a lot considering that SCLS is ultra-rare, and not just by the over 400 informative discussion topics we have generated.
I measure success by the great emotional support we have provided to one another, and by the dissemination of very useful information on diagnostic, management and treatment aspects of SCLS, which have had a huge limb- and life-saving impact on dozens of SCLS patients around the world -- as many of you have let me know through this platform or privately.
But let's admit that we all owe huge debt of gratitude to David Isserman and Eric Steele, in the first place, and to Dr. Jimmy Lin, without whom our virtually community (a) might not have come into existence or (b) might not have survived.
Part 2 tells the story of the discovery and early dissemination of IVIG therapy for SCLS; Part 3 covers the initiatives to expand awareness of SCLS; and Part 4 discusses steps taken to widen access to IVIG for as many SCLS patients as possible.