Patient Registries

Simons Searchlight Quarterly Report – October 2023

By Sandra McEntee / November 1, 2023 / Comments Off on Simons Searchlight Quarterly Report – October 2023

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. Simons Searchlight assigns the CBCL…

SLC6A1 featured at the Orphan Drugs and Rare Diseases Conference in London

By Kevin McEntee / October 14, 2023 / Comments Off on SLC6A1 featured at the Orphan Drugs and Rare Diseases Conference in London

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 speaker. My Husband Daniel, and…

Simons Searchlight Quarterly Report – August 2023

By Sandra McEntee / August 29, 2023 / Comments Off on Simons Searchlight Quarterly Report – August 2023

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 condition progress in communication, self-care,…

We Are Rare But We Are There!

By Sandra McEntee / May 24, 2023 / Comments Off on We Are Rare But We Are There!

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 Network, which is a collaboration…

#ShineYourSearchlight Step 6 – Update Simons Searchlight Yearly

By Sandra McEntee / May 3, 2023 / Comments Off on #ShineYourSearchlight Step 6 – Update Simons Searchlight Yearly

#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 to your dashboard to finish…

#ShineYourSearchlight Step 5 – Provide an Optional Blood Sample

By Sandra McEntee / April 5, 2023 / Comments Off on #ShineYourSearchlight Step 5 – Provide an Optional Blood Sample

#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 all Participation Steps: bit.ly/ShineYourSearchlightCampaign

#ShineYourSearchlight Step 4 – Complete Surveys

By Sandra McEntee / March 22, 2023 / Comments Off on #ShineYourSearchlight Step 4 – Complete Surveys

#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 

#ShineYourSearchlight Step 3 – Share Your Medical History with Simons Searchlight

By Sandra McEntee / March 10, 2023 / Comments Off on #ShineYourSearchlight Step 3 – Share Your Medical History with Simons Searchlight

#ShineYourSearchlight ? Share your medical history with @SimonsSearchlight! This will help you and researchers get a more accurate picture of what it means to have SLC6A1 over time. All medical history information is shared by completing a survey with the option to speak to a genetic counselor. Go to your dashboard: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign

#ShineYourSearchlight Step 2 – Upload Your Genetic Lab Report

By Sandra McEntee / March 10, 2023 / Comments Off on #ShineYourSearchlight Step 2 – Upload Your Genetic Lab Report

#ShineYourSearchlight ? Have you uploaded your genetic lab report to your @SimonsSearchlight dashboard? Researchers need specific details in your genetic lab report to learn more about SLC6A1. No genetic lab report? Their team will do the work to find it for you! Go to your dashboard: bit.ly/Simons_Searchlight_Dashboard #SLC6A1 View all Participation Steps: bit.ly/ShineYourSearchlightCampaign

#ShineYourSearchlight – Join Simons Searchlight

By Sandra McEntee / February 8, 2023 / Comments Off on #ShineYourSearchlight – Join Simons Searchlight

#ShineYourSearchlight? Not enough is known about SLC6A1. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to SimonsSearchlight.org to sign up for FREE! #SLC6A1