Mike is the Managing Director of SRF.
THERE WERE 51 NEW PATIENTS IDENTIFIED IN THE FIRST THREE MONTHS OF 2020
In the #SyngapCensus article we posted at the end of last year, we put the count at 484. Today the count is at 535. So we are aware of another 51 patients around the globe who have been identified. This number is important to keep track of and stay current on as we continue to engage researchers, industry & other rare disease colleagues. To see the data please view our spreadsheet available via this link bit.ly/SyngapCount.
ADDITIONAL PATIENTS WERE FOUND IN 14 COUNTRIES
In the USA we added 16, detail below. In Spain, Syngap Espana is aware of 8 new members. In Germany, Syngap Elternhilfe has identified 5, in both Canada and France we identified another four patients in partnership with Overcome Syngap, in the UK we are aware of four more patients, in both Colombia & Italy, two additional patients were found. One patient was identified in each of Brazil, Denmark, Israel, Kosovo, Poland & Russia.
IN USA WE FOUND PATIENTS IN 14 STATES
The known US population grew by 16 from 146 to 162. There were two new patients in both Minnesota & Texas. One new patient was identified in each of California, Connecticut, Washington DC, Florida, Georgia, Idaho, Illinois, Indiana, Kansas, Kentucky, Nebraska & New Jersey. 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.
THESE NUMBERS ARE ALL TOO LOW
It bears repeating that these numbers are too low. We connect with these families after they have a diagnosis and just getting that far is hard. Too few families get tested for a variety of reasons including cost. Too few families are aware of programs like Behind the Seizure. So this number is those who were lucky enough to be diagnosed, were online and found Syngap groups. How many did we miss in that process?
We know that Syngap is highly undiagnosed. This was a factor in the CDC’s willingness to consider Syngap for an ICD code (read their brief in our blog) and it is well accepted in the research community. You can see from Invitae’s paper on their Epilepsy Panel that Syngap was the 10th most common gene (see Figure 1.C) per SRF correspondence with Invitae “in 9,413 patients tested on the epilepsy panel, we observed 79 VUS and 39 Pathogenic or likely pathogenic variants in the SYNGAP1 gene. The SYNGAP1 positive cases accounted for 2.5% of all positive cases and it was the 10th most frequent cause of disease in patients tested on this panel.” For every pathogenic hit there were twice as many uncertain mutations. In the absence of more testing we don’t know how many of those are also Syngapians.
NOT SURE IF YOU ARE HERE?
Please contact us and and let us know about your Syngapian, we will let you know if we already had you counted. Also you can make sure you are on the Syngap map, which is a great way to connect with others close to you.