Jeb Spengler via Crowdrise
June 28, 2011
BENEFITING: Phelan McDermid Syndrome Foundation
Phelan-McDermid Syndrome Fellowship Fundraiser
Andrew has Phelan-McDermid syndrome (“PMS”), also known as 22q13 deletion syndrome, caused by the deletion of his SHANK3 gene on his 22nd chromosome. There are approximately 600 known cases worldwide, although the actual incidence is likely much more frequent as the technology to diagnosis it is only now becoming more widely available and less expensive. There is a fairly good description of PMS at this link if you want to learn more (apparently I haven’t lobbied hard enough to get Andrew’s picture in there).
Andrew can’t talk, and he isn’t toilet trained. Despite this, he is “lucky,” since he can walk, and he has yet to have a seizure, although approximately a third to half of PMS kids have seizures by the time they reach puberty. Andrew is 8.
Despite the rarity of his condition, there is a surprising amount of SHANK3 research, although most of that research is specific to the gene and not to Phelan-McDermid syndrome. Several university labs have SHANK3 knock-out mice and are studying them, including potential treatments. As well, recent reports have linked SHANK3 deletions and mutations to autism.
Andrew was diagnosed six years ago in 2005. In the years since, I have heard the constant drumbeat from the Phelan-McDermid Syndrome Foundation (the “PMSF”) to raise money. Up until now, although I have given to the PMSF myself, I have not asked anybody else for anything on behalf of the PMSF. I specifically have waited until there was a clearly defined cause that I believed was worthy of soliciting donations. That is, a cause that I believed had a meaningful chance of actually improving Andrew’s life. That cause has arrived.
As you can imagine, with 600 families worldwide, the PMSF isn’t exactly overflowing with money. Despite this, it has managed to make quite a bit of progress, to the point where it recently announced that it is sponsoring a $50,000/year fellowship for a post-doctoral student whose objective will be to leverage the current SHANK3 and related research and, in the PMSF’s words, “[identify] the molecular pathology of PMS that can inform translational research for drug discovery” and “[develop and evaluate] novel treatments.” In other words, this is not some general program that will help Andrew’s cause at the margin and therefore help Andrew only indirectly, if at all. Rather, the fellow will build on the existing research toward development of a treatment that, eventually, potentially could directly and meaningfully help Andrew.
Letters of intent for the fellowship were due June 1, 2011, with applications to be due July 31 and actual work to begin in September 2011. The PMSF received quite a lot of interest in this position. More information about the fellowship is available here (see the second item).
My goal is to raise $50,000 to sponsor the fellowship for one year. That's right, I said $50,000. Toward this end, I have donated the first $5,000. Please help. The PSMF is a qualified 501(c)(3) organization and your donation is tax deductible. Don't forget your employer gift-matching.
As I said, I’ve resisted asking for help up until now. The Led Zeppelin fans among you will remember Robert Plant’s famous words from 1969, “Now’s the time, the time is now.”
Thank you in advance for your consideration.