Community

Registration begins for the 2024 SLC6A1 Connect International Symposium and Family Conference

By Kevin McEntee / August 30, 2024 / Comments Off on Registration begins for the 2024 SLC6A1 Connect International Symposium and Family Conference

We hope you will join us for SLC6A1 Connect’s 2024 International Scientific Symposium and Family Conference to be held on December 5-6, 2024 at the Omni Hotel in Los Angeles, CA, prior to the American Epilepsy Society Annual Meeting. Our International Scientific Symposium will be a full day of clinical updates, scientific presentations and protocols,…

Rare Disease Week

By Kevin McEntee / February 25, 2023 / Comments Off on 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 accept that nothing can be…

Maxwell, Riley, and I had a special spring break!

By SLC6A1 Gene / March 26, 2022 / Comments Off on Maxwell, Riley, and I had a special spring break!

SLC6A1 families from Kansas City, Iowa, New York City, Belgium, and the Netherlands all headed to Dallas to visit us!  We had some belly laughs and created unforgettable memories.  We all share a bond only understood by fellow parents and each other’s presence is comforting.  The strength, perseverance, and resilience of each family is remarkable.…

The Honorable Congressman Van Taylor and Silly Riley

By SLC6A1 Gene / January 8, 2022 / Comments Off on The Honorable Congressman Van Taylor and Silly Riley

Today was too good not to share!!! I had a meeting with my congressional representative, the honorable Van Taylor to discuss rare disease advocacy at the state and national level.  Rare diseases are considered too rare to care by pharma, government, and even some medical professionals.  Our lofty aspirations require the support of an army. …

Amber’s Birthday ?

By SLC6A1 Gene / October 5, 2021 / Comments Off on Amber’s Birthday ?

My birthday was Saturday which in rare disease world equates to the obligatory fundraiser. This year, I am celebrating a success along with our faithful donors that have made this moment possible. Last December, many gene therapy projects were mostly halted due to social distancing measures. Days continued to pass for children that do not…

A Big Win

By SLC6A1 Gene / April 22, 2021 / Comments Off on 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 Therapeutics for SLC6A1.  The trial…

Celebrating Like it’s 2017

By SLC6A1 Gene / March 27, 2021 / Comments Off on Celebrating Like it’s 2017

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 on my shoes and I…

The Girl That Changed Everything

By SLC6A1 Gene / February 15, 2021 / Comments Off on The Girl That Changed Everything

Mila was born 10 years ago in Boulder, Colorado to an adoring mother named Julia Vitarello.  Beautiful and energetic from the start, Mila was a little girl whose personality drew others in naturally.  Even as a three-year-old, she used her captivating smile, repertoire of Frozen songs and her soft touch to charm an entire flight…

Sorrow

By SLC6A1 Gene / February 11, 2021 / Comments Off on 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 I could lead morning meetings…

Gratitude

By SLC6A1 Gene / January 3, 2021 / Comments Off on 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 found a large amount of…