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…
Hello again! In continuation of Rare Disease Week, we want to talk specifically about the rare disease that affects our kids and families, SLC6A1 Epileptic Encephalopathy. SLC6A1 epileptic encephalopathy is a rare neurological condition in children that causes seizures, severe movement and speech disorders, and intellectual disability. As rare disease parents, we simply cannot Read more…
I was exactly 34 weeks pregnant, and it was the day of my maternity photoshoot. Our sweet photographer said 34 weeks is the perfect time because women are glowing, but that is not the case when you are 5’2, 100 pounds and carrying twins. I could barely walk, Mark put Read more…
Only 4% of Federal Research Funding is Dedicated to Pediatric Cancer and the 5-year Survival Rate is 2%. Rare Pediatric Diseases are Mostly a Death Sentence for a Life that Never Began. Today is a terrible anniversary for my dear friends, Chris & Chantal Pittman. My family was entrenched in Read more…