Every quarter SynGAP Research Fund (SRF) and our partner organizations in the Syngap Global Network (SGN) tally up the newly diagnosed patients in our respective regions and come up with a global count. Today, the count stands at 808 patients.
Where does this number come from? This is the total number of actual, real life people with SYNGAP1 known to SynGAP patient advocacy organizations and family support groups worldwide. It’s not the number of people in SYNGAP1 registries and it’s not the number of mutations associated with the SYNGAP1 gene.
This number is incredibly important for SynGAP advocacy because it’s crucial to recruiting more people into SYNGAP1 natural history studies such as SRF’s major collaboration with Ciitizen.
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 any country where you can obtain medical records in English, we encourage you to participate in Ciitizen. If you’re in a Spanish speaking country, please also get in touch because we can organize the translation of your medical records into English.
Finally, please put a pin on the SGN SynGAP Map to see which families might be close to you.
The summary census data is available in this Google Sheet. Q2 has actually been our record low for newly diagnosed families, likely driven by the ongoing effects of the global pandemic combined with fewer updates from our partners in Asia. In Q2 we added an additional 13 patients in the USA and 2 in the UK. The other top stories of this quarter were: 1) an additional 5 diagnosed patients found in Poland due to the ongoing outreach of SYNGAP1 parent and SRF volunteer Beata Tarasiuk - thank you Beata! We hope to see more diagnoses forthcoming in Poland and Eastern Europe after the opening of a new diagnostic lab, Imagene, in Białystok. 2) 4 new families diagnosed in both Germany and Italy 3) Malaysia and Hungary entered the SYNGAP1 stage with new patients identified in those countries.
We know there are many more undiagnosed patients out there. SRF and SGN are working diligently on outreach. One of the most powerful things we can do as parents and caregivers is to share our loved one’s diagnosis story. Please consider sharing your story via SRF’s Warrior Wednesday. It’s a great way to get your voice heard. If you’re part of an under-represented community or live in a country with a low diagnosis rate please get in touch with us so we can help tell your story!