Increasing diagnoses will help us cure SLC6A1 SLC6A1 and other genetic brain disorders are underdiagnosed due to barriers to genetic testing. Conditions that are considered ‘rare’ struggle to attract medical research. A great deal of medical research is funded by drug manufacturers seeking a market for their treatment products. Larger Read more…
Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL). The CBCL includes questions about anxiety, sadness, somatic and emotional concerns, attention, social difficulties, and more. Read more…
We are excited to share the following blog post from Lindsay Randall. Lindsay is the founder of Arthur’s Quest, our partner SLC6A1 community in the United Kingdom. On October 10th, my daughter’s 4th Birthday, I attended the 4th Annual MarketsandMarkets Orphan Drugs and Rare Diseases Conference in London, as a Read more…
Our friends at @SimonsSearchlight created a new quarterly report with updated information shared by our families and feature a special spotlight on developmental growth charts, using insights based on the Vineland Adaptive Behavior Scales (Vineland-3) data, which show skills at different ages. Caregivers share how their loved ones with the genetic Read more…
Last July Amber asked me to help launch the Ciitizen partnership with SLC6A1 to create a new digital Natural History Study. Ciitizen was founded with a mission to let patients control their own health records to aid in their own healthcare and to advance research. They developed the Rare Patient Read more…
#ShineYourSearchlight ✨ Continue your @SimonsSearchlight journey and help our community grow! Your involvement can lead to important insights so current and future families can find hope for their family. The more data we collect over time, the better picture we will have of what it means to have SLC6A1. Go Read more…
#ShineYourSearchlight ✨ Do you live in the United States? Make sure your genetic variant is part of the @SimonsSearchlight biorepository! It is important to represent yourself and have researchers looking at YOUR specific information! Your blood sample can help in creating future therapies and treatments. Contact coordinator@simonssearchlight.org to learn more. #SLC6A1 View Read more…
Why do you see so many fundraising emails and posts for SLC6A1 Connect? Where does all this money go? I have wondered this since first talking with SLC6A1 Connect CEO and Founder, Amber Freed, after my daughter’s diagnosis in early November 2020. Amber outlined two parallel tracks the organization was Read more…
#ShineYourSearchlight ✨ Have you completed @SimonsSearchlight surveys? They collect information on behavior, communication, motor skills and more. Long-term participation and completing surveys are critically important to the success of research into SLC6A1. Go to your dashboard to complete your surveys: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign
Dear Family, Friends and Supporters of SLC6A1 Connect, As Rare Disease Day 2023 is upon us, we are still fighting every day for our children to have the best chance they can have at life. We didn’t ask or hope to be here, again. We don’t want to be begging Read more…