Mike Graglia is the co-founder of SRF, his son Tony has SynGAP. Both of them like to count things.
HOW DID THE #SYNGAPCENSUS BEGIN?
In July 2019, I wrote an article on “For Parents, by Parents” aka the SRF blog, about how many Syngap diagnoses there were. At the time I said that the members of SGN and I had a best guess of 365 and I was clear that this number was wrong—too low—inviting people to send updates.
They did. Lots of them. By the time I last updated the article, it was up to 431.
As much as I love to count things, it was getting tricky. A few new patients are being diagnosed every week. But this is the magic of the Syngap Global Network, of which SRF is the US node, we collaborate to meet whatever comes at us.
WHAT’S THE NUMBER? HOW DID YOU GET IT? WHERE’S THE LIST OF COUNTS BY GEOGRAPHY?
Each country organization not began tracking more diligently, but we helped each other identify new families as they appeared on the increasing number of FB groups. The tally I am sharing in this blog, is the result of input from around the globe. Sadly it will be out of date in a week, honestly it already is because everywhere we have active leaders we all know about a few families who stay well off the cyber-grid. And there are almost certainly more like them, but this is a start, we do know about 484 patients, for the full list of locations see this spreadsheet.
DON’T YOU HAVE A MAP?
It gets better, they made a map where families can register, put a pin down, and ask to be contacted, or chose to remain private, but still known. It is incredible to think that 6 months ago I compained to the internet “I’m sick of having no idea how many of us there are? How about 365, how wrong is that?” and half a year later, we have a live map and much bigger number.
DOES THIS MATTER?
Why does that number matter? Isn’t each of those a kid who will be sick their whole life? A family who needs to rethink basically everything? A litany of medical treatments, bills, therapies and… I’ll stop. Yes, it is. But there is hope, things are happening in science at an astonishing speed, see this article for a start, and when brilliant scientists form companies to tackle rare diseases, they need to know how big a disease is, how fast it’s growing and if they can actually find those patients for trials and studies.
So that’s one great reason to update this number, to encourage research and biotechs to help our kids, but there is another. Connection. This rare disease parent life is exhausting and lonely. Ever since we started this #SyngapCensus I’ve honestly lost track of the number of times we have been able to introduce families that live only a few miles from each other. Those connections are lifelines, for the parents and the patients. This count matters.
WHAT CAN I DO TO HELP?
- Take a look at the list. If you are in touch with SRF or your local SGN member, you are on it. If you’re not, or you are not sure:
- Please get yourself on the next update by contacting us, and
- Register for the map. Yes, please do both, keeping this data current is not easy.
- Share this article so that others can see it.
- Check to see if other families you know of are on the list, if they aren’t—”Hey, I know of at least 4 in Oregon and this list only has 2… let me forward this to them so they can update SRF & SGN.”—and then ask them to get in touch.