Aubrey

CHILDS NAME: Aubrey

CURRENT AGE: 6

HOMETOWN & STATE: Freedom, WI 

DIAGNOSIS DATE: May 2022

PARENTS: Justin and Erika

SIBLINGS: None

How did you know something was wrong?

Aubrey started having hundreds of seizures a day at 3 1/2 years old. With the seizures came regression in areas of cognition, movement, coordination and balance. We remember thinking, "This can't be just a side effect of the medications. When is this nightmare going to end?"

What did it feel like when we learned our child has SLC6A1?

It was, honestly, the strangest combination of relief and turmoil. Relief in that we finally had a name for the disorder we had been fighting. But with it came so much grief. She wasn't going to just grow out of the seizures, there wasn't a magical pill, and there was very little information, in general. We were told Aubrey tells us more about SLC6A1 than the specialist can tell you about the disorder.

The hardest part of being a SLC6A1 family?

The hardest part is the isolation and the unknown. We are afraid to celebrate her achievements because we've watched them be stripped away so many times already since Aubrey's seizures started. Skills that used to be Aubrey's strengths are now goals on her IEP. We don't know when this next wave of regression is going to come or how severe it will be. The fear is always there.

What are your dreams for Aubrey?

Our dream for Aubrey is that one day she can live independently and have strong successful friendships.

Why would you like people to donate to SLC6A1 Connect?

By donating, you are not only helping Aubrey medically, you are helping her reach her goals. She is always saying how much she wants to be a mom when she grows up. I'm hoping someday she won't have to live in fear of passing on this rare disease.