#SyngapCensus 1Q21 +57 new patients

What’s SYNGAP CENSUS all about?

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 762 patients.

WHERE DID WE FIND MORE PATIENTS?

The summary census data is available in this Google Sheet. In Q1 we added an additional 12 patients in the USA and 2 in the UK. The other top stories of this quarter were: 1) an additional 8 diagnosed patients found in Poland due to the outreach of SYNGAP1 parent and SRF volunteer Beata Tarasiuk — thank you Beata! 2) Turkey entered the SYNGAP1 stage with 6 new patients identified; 3) Brazil has a growing number of patients: now at 14 — thank you Keli! We also found patients in five other new countries: Argentina, Dominican Republic, Mexico, Qatar, Ukraine. Very encouraging to see new diagnoses and connections strengthening with these countries.

THESE NUMBERS ARE STILL TOO LOW

We know there are many more undiagnosed patients out there. One of the most powerful things we can do as parents and caregivers is to share our loved one’s diagnosis story. This is really important, especially if you’re part of a community that is not well represented in the data (SYNGAP1 diagnoses are mainly comprised of caucasian children). It’s important to explain what learning about SYNGAP1 has meant for families because genetic testing is not always considered necessary, particularly if a person is older or has a milder presentation of the disorder. SRF and SGN has a wide network of doctors, researchers, genetic counselors and rare disease advocacy partners. Sharing your story via Warrior Wednesday is a great way to get your voice heard by all of them. 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!

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SynGAP Research Fund Updates

SynGAP Research Fund Updates

SynGAPResearchFund.com (est. 2018) improves the quality of life of #SynGAP patients via research & development of treatments, therapies & support systems.