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.
Is this a perfect count? No. Indeed, there may be a small margin of error, although we tend err on the side of caution and don’t count someone if we’re unsure (if anything we’re undercounting). However, this number matters and there’s no one else counting for us. It’s up to us as SYNGAP1 patient advocacy groups to make sure our loved ones are fairly represented. Counting matters because companies invest in treatments based on numbers of patients diagnosed and how fast they are being found. We also need to know who’s out there so we can recruit into our natural history study with Ciitizen.
By the end of the year 2019, we were up to 484; year end 2020, 705. At the end of the first quarter of 2021 we’re now standing at 762. Linear progression but progression nonetheless. At this rate we should have between 900 and 1000 patients diagnosed by the end of 2021.
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, SRF’s patient registry and the largest SYNGAP1 natural history study ever conducted. 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.
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!