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 done for our precious kids, so we do anything and everything possible to fight for our kids and our families. 

This is how SLC6A1 Connect was formed. SLC6A1 Connect is a patient advocacy group dedicated to improving the lives of children and families affected by SLC6A1. Our group is led by and comprised of passionate and relentless parents of kids with SLC6A1.  Our mission is to advance scientific research that will ultimately result in a disease-modifying treatment.  We refuse to accept the fact that nothing will come next. 

Did you know…

• The neurotransmitter impacted by a defective SLC6A1 Gene, GABA, is the body’s most important inhibitory neurotransmitter.
• SLC6A1 is the 10^th leading cause of Autism.
• SLC6A1 is the 6^th leading cause of epilepsy.
• SLC6A1 plays a major role in psychiatric conditions.
• The work we are doing to cure SLC6A1 could uncover mysteries for more prevalent neurological diseases, such as Parkinsons.

While our SLC6A1 Epileptic Encephalopathy is rare, the impact of its treatment and cure will have a ripple effect on so many people and so many other diseases. We are asking our community of friends and family to consider a $28 donation to help us raise $28,000 by the 28^th, won’t you join us by donating at this link?

Ripples

When you create a difference in someone’s life, you not only impact their life,

you impact everyone influenced by them throughout their entire lifetime.

No act is ever too small.

One by one,

That is how we make an ocean rise.

~Danielle Doby