Mike is the Managing Director of SRF.
On July 15, 2019 I wrote an article saying that in the year I had been diagnosed, everybody had the same unchanging answer to “how many are there?” They all said “about 200.” So I asked every country leader I knew, went through lists and said “here it is: at least 364, and that’s way too low, but it’s what I know today.” My inbox was flooded, people continuously raised their hands and I kept updating the same article.
By the end of the year 2019, we were up to 484. At year end 2020 we're now standing at 705. A total of 221 known families were identified this past year. That's more patients found this year (despite a raging global pandemic) than the count we started with at the beginning of 2019. We’re averaging 57 new patients worldwide per quarter.
This number matters. Companies invest in drugs based on numbers of patients diagnosed and how fast they are being found. We urge everyone to reach out to SRF or any of our partners in SGN and make sure we have you counted. If your family member with SYNGAP1 is currently resident in the US, we encourage you to participate in Ciitizen, SRF's patient registry, and poised to be the largest SynGAP natural history study ever conducted. Also, please put a pin on the SGN SynGAP Map to see which families might be close to you.
The summary data is in this Google Sheet. In Q4 we added 11 in the USA, and 4 in the UK. Our partner groups in key countries help us keep the #SynGAPCensus straight: the story of the year is the explosion in connected families in China (up 17) which has been facilitated by the incredible growth of Syngap China. Overcôme Syngap identified 6 in France and 1 in Canada. Syngap Benelux also found 6. Syngap Elternhilfe identified 5 in Germany. Syngap Research Fund Australia found 2. Syngap Sweden found 1.
In countries without organizations it is harder to find people and if you are a parent in a country that does not have a group, please start one. (Lots of other good reasons to have one besides counting, please let us know how we can help.) By way of the ever-supportive Facebook group and Fondo De Investigación SynGAP we also found 4 more SynGAPians in Hong Kong, Egypt, and Chile.
It's dreadful to ponder how many people out in the world with SYNGAP1 remain undiagnosed. Time after time, families tell us that diagnosis has helped them understand their child better and helped them plan for their future. Parents of newly diagnosed children have described connecting with local Syngap groups “as lightning in dark clouds”. We ask every family to do whatever they feel comfortable with in terms of spreading awareness of SYNGAP1. It might be simply mentioning SRF to a neurologist or physician, it could be writing or sharing an article with your home country's epilepsy organization, or sharing their child's story on Warrior Wednesday, or posting a link to programs like Behind the Seizure in an epilepsy or special needs forum. We appreciate the 2020 count sadly missing far too many children and adults around the world. Sharing our stories is one of the most powerful things we can do to spread awareness and find more families.
Be well. May 2021 bring us both closer to a treatment and closer to one another.