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 ands 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 raised their hands all over the place and I kept updating the same Medium article.
This number really 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 on the list. Also, please put a pin on the SynGAP Map to see who might be close to you.
If we take the rate of growth, ~60 a quarter and just draw a straight line into the future we will be at 956 by 12/31/21, but I’m certain we will be well over 1,000 before then. A straight line is conservative since the rate of diagnosis is increasing. Tests are getting cheaper, awareness of SynGAP is increasing; as is the use of genetic testing.
To understand better the importance of genetic testing and why it’s use increasing, this interview is helpful. Here I am interviewing Dr. Marshall Summar, Director of the Rare Disease Institute at Children’s National & Chairman of the Board of NORD for the Child Neurology Foundation.
The summary data is in this Google Sheet. In the USA we added 17, in the UK 19 (this is a correction for an undercount before). Our partner groups in key countries help us keep the #SynGAPCensus straight: Overcome Syngap identified 4 in France & 2 in Canada. Syngap Elternhilfe identified 3 in Germany. Syngap Espana & Syngap Sweden each found two. Syngap Italia 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.) We did manage to identify previously undercounted SynGAPians in Russia (5), Belarus (2), Belgium (2) & Portugal (1). We also had four new countries join the list with diagnoses identified in Slovenia (3), Chile (2), Kosovo (1) & Morocco (1).
The known US population grew by 17 from 162 to 179. SRFs Family Empowerment team, aka Ambassadors, reached out to all of these families, shared a welcome pack and let them know we are here if they have any questions.
When you understand how low this count is and why, it is heartbreaking. We connect with these families after they have a diagnosis and just getting that far is hard. Too hard. Too few families get tested for a variety of reasons including cost. Not enough are aware of programs like Behind the Seizure. This number is only those who were lucky enough to be diagnosed, got online and found Syngap groups. How many have we missed?
Another reason we are sure it is low is people who were young before SynGAP was even on genetic tests. This quarter a few people showed up who were older than average, these people are now being caught because of retesting of research samples or enlightened adult doctors. For instance, in Denmark they sequenced 200 adults with ID and 46 (23%) had a pathogenic mutation — one had SynGAP. As I wrote in the Incidence blog, between prevalence like this in the ID population or more recent work on genetic predicted incidence, we would expect to see ~20,000 Syngap patients in the US alone.
Last week, this paper by Aledo-Serrano et al came out that digs deeper into the undiagnosed population and the abstract concludes “Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.”
SRF is currently organizing a grant for some Epigenetics work, please read about this exciting project and help us spread the word.