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 883 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. We also invite you to register and upload your genetic report if you have it in any language.
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. We are grateful to our friends in Syngap China for updating us on the 14 new families diagnosed there in the past 6 months. In Q3 we added an additional 19 patients in the USA and 3 in the UK. We also obtained a more accurate number of Danish patients (up 9 to 11) via our researcher friends at Filadelfia Epilepsy Hospital. France was our fourth highest diagnosed country with an additional 5 families getting in touch with Overcôme Syngap1. We thank all the SGN partner organizations for their updates.
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!