Rare Disease Week

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…

A Big Win

We’re so excited to share a big win for our community.  This is happening because of our selfless donors that walk alongside of us every single day.  In thanks to our support, SLC6A1 Connect is funding a clinical trial to repurpose an FDA approved drug named Ravicti made by Horizon Read more…

Sorrow

Our small, closely knit, rare disease community lost one of our heroes. I have contemplated sharing this information because frankly, it makes it hard to breathe. When I saw the other mother’s post, my mind nearly imploded with grief and fear. I tried to push it out of mind so Read more…

Gratitude

The start of 2021 is beginning with nothing but positivity, joy and a strong belief that miracles happen every day.  Rather than list a slew of resolutions that may or may not be feasible (as COVID taught us),  I have decided to start the year with simple gratitude.  I have Read more…