When Erika Vandenberg learned that her daughter Aubrey had a rare genetic disorder called SLC6A1, her first two reactions were fear and relief. Relief because they finally had a name for what was going on: her daughter’s development regression, seizures, and abnormal movements. Fear because SLC6A1 is still relatively “new”; there have only been around 34 cases described in medical literature and, though more families are beginning to receive diagnoses and the community is expanding, many doctors still lack a fundamental awareness of what SLC6A1 is.
Erika and her family are still only around six months into their journey; Aubrey was diagnosed earlier this year in May. Yet to make a change, advance research, and create a better world for Aubrey and other children like her, Erika knows that she must share her story and raise awareness. So that’s what she’s trying to do in any way she can.
About SLC6A1
As described by SCL6A1 Connect, SCL6A1 is:
a rare neurological condition in small children that causes seizures, severe movement and speech disorders, and intellectual disability.
The National Organization for Rare Disorders (NORD) further explains that SLC6A1, which may also be called SLC6A1 epileptic encephalopathy, is an autosomal dominant genetic disorder resulting from loss-of-function in SLC6A1. This condition is characterized by early-onset seizures which may appear between 7 months to 6 years old, with a mean onset of 3.7 years.
Symptoms and characteristics of SLC6A1 can (but do not always) include:
- Absence, myoclonic, and/or atonic seizures
- Mild-to-moderate intellectual disability
- Hypotonia (low/weak muscle tone)
- Speech difficulties (such as impaired language)
- Behavioral problems (hyperactivity, aggression, etc.)
- Developmental regression
- Ataxia (poor muscle control; impaired coordination)
Aubrey’s Story
Erika Vandenberg had already been excited for the birth of her daughter Aubrey; when Aubrey finally arrived, Erika was filled to the brim with love and happiness. Over the coming months, Aubrey seemed to be developing normally. Erika shares:
She did this odd eye flutter from infancy on. We had asked multiple doctors about it and nobody was very worried about it. Other than that, she had very normal development outside of not walking until she was sixteen months old.
However, as Aubrey grew older, the eye flutters continued – and Erika noticed that her daughter seemed to be struggling with speech and showing signs of fine motor and sensory deficits. She took Aubrey to Occupational and Speech Therapy to have her assessed, but the therapists said that Aubrey didn’t need therapy. In fact, they believed that Aubrey would catch up, developmentally speaking, once she started school.
Instead, in August 2021 (right before school began), another health concern popped up. Erika explains:
My daughter started having seizures. I was hesitant to call them that at first, but after three visits, I was telling the doctors that she was having seizures. Aubrey had these weird, rounded leg movements that sometimes kept shaking after her legs hit the ground. The doctors kept referring to it as leg weakness. I felt like nobody was listening to my concerns. Every time I went back, they would say, ‘Oh, is this about the leg weakness again?’ There’s nothing weak about my child but yes, she’s having some weird movements.
Eventually, Aubrey was admitted to the hospital to undergo a 48-hour EEG. The report found that Aubrey had over twenty seizures in the first hour alone and over 100 in a day. After the EEG, doctors placed Aubrey on Keppra, an anticonvulsant.
Problems with Keppra
Unfortunately, Keppra did not seem to be working very well for Aubrey’s condition; in fact, Erika shares, her daughter seemed to worsen in many regards. She explains:
Prior to Keppra, Aubrey was doing 100-piece puzzles easily. After, she struggled with 50-piece puzzles. She would cry for no reason. She began developmentally regressing and losing skills like counting. One week she could count to ten and then she couldn’t. She used to sing nursery rhymes or sing the ABCs through and suddenly couldn’t do that anymore. I kept bringing it up to the neurologist and saying that she couldn’t focus. That I was seeing eye flutters and leg movements and seizures. I work in the healthcare setting and am so frustrated about how our healthcare system failed me and my daughter. Why aren’t we listening to patients and families?
After four months, Aubrey’s seizures had worsened. Erika and Aubrey’s doctors made the decision to stop Keppra treatment and some of the symptoms resolved. However, the neurologist felt like there could be some sort of underlying genetic cause to Aubrey’s epilepsy, so he referred them to genetic testing. The family did need to wait a few months before they were able to pursue that option.
In the interim, Aubrey’s condition fluctuated. Erika describes it as a ‘constant rollercoaster’:
She would make gains and then lose them. We’d keep a journal of what was happening. She began walking on her toes. She’d pull on her ears and legs or push on her body a lot. We were wondering if she couldn’t feel her hands because she would bite her hands and seemed to always need more sensory input. When the seizures got better, she stopped doing that. We’d try a new medicine and she’d get better, then regress again. We did the keto diet and she thrived, then she’d lose all of her skills again.
Even more frustratingly, Erika now knows that Aubrey was dealing with mild-to-moderate encephalopathy at the time. But, she shares:
Even though her first EEG said that, it was never said out loud to me. And those are very big, important words and diagnoses for cognition. To not ever have heard that said is infuriating.
By May 2022, the family received their diagnosis: SLC6A1.
Join us in Part 2 as we discuss receiving the SLC6A1 diagnosis, connecting with other families, how Aubrey is doing today, and advice for the newly diagnosed.
