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Carmen Peterson noticed early on that her son, Ethan, was missing small developmental milestones, like walking, eating solid foods and talking, as an infant in 2017.
“He was 12 months before he started even taking steps,” Peterson said.
Between five and six months, he stopped eating solid foods and had to be breastfed again.
“He just refused,” she said. “He wouldn’t even take a bottle.”
At first, Peterson said, pediatricians dismissed her concerns.
“I knew something was wrong, but I just couldn’t put my finger on it,” she said.
At a year old, her son was hospitalized for dehydration. At that time, he was still missing developmental milestones and only consuming breast milk.
In 2020, at age three, Ethan began to experience “drop seizures,” a type of seizure that causes a sudden loss of muscle strength and was later diagnosed with epilepsy.
The following year, he was also diagnosed with autism.
“I was floored because I just wasn’t expecting it,” Peterson said. “We didn’t have any of that in the family— epilepsy or autism.”
It wasn’t until the Peterson family saw Shana Wallace, a Black neurologist, in December of 2021 that they learned their son had a disorder called SYNGAP-1.
Why it matters: About 1 per 16,000 people have SYNGAP-1 Syndrome, comprising around 1-2% of all intellectual disabilities, making it one of the most common genetic causes of intellectual disability, according to the Syngap Research Fund.
A rare disease
SYNGAP-1 Syndrome is a rare genetic disorder caused by a variant of the SYNGAP1 gene, which creates proteins responsible for things like learning, sleep and memory.
The SYNGAP-1 gene is located on Chromosome 6 and is responsible for producing the SYNGAP protein, something that helps regulate how neurons communicate with each other, according to the Syngap Research Fund.
“Everybody has [the SYNGAP-1 gene]. You get a copy from both parents,” Peterson said. “[Sometimes] there’s a mutation or variant in one, that’s what causes it because your brain is not producing enough.”
Most SYNGAP-1 Syndrome patients have de novo variants, meaning they are not inherited.
“The problem becomes that [SYNGAP-1] is responsible for learning and memory and sleep, so many different things,” Peterson said.
Some symptoms of SYNGAP-1 Syndrome include intellectual disabilities, developmental delays, motor skill delays, autism spectrum disorder and epilepsy, including subtle eyelid flutters, brief jerks and drop seizures.
Around 385 people in the U.S. have SYNGAP-1 Syndrome, Peterson said. Of those, around 12 are Black.
Seeking answers
For the Peterson family, finding answers to Ethan’s symptoms was a long and difficult process.
“I was still so raw, I couldn’t even talk about it without crying,” Peterson said. “I just didn’t understand it. There wasn’t a lot of information. Nobody knew what [SYNGAP-1 Syndrome] was. Nobody knew how to treat it.”
After getting a diagnosis, she said finding the right treatment plan was also difficult.
She said the medication Ethan was originally prescribed made him aggressive.
“Some of the early medications that he was on — not only did not stop it — it changed him to a whole different baby,” Peterson told QCity Metro.
Peterson said she felt doctors and nurses continually dismissed the family’s concerns.
“I feel like [they] didn’t hear me,” she said. “[They] weren’t listening.”
Eventually, with the help of Wallace, the Peterson family was able to find Ethan the correct medication.
“We got lucky when we found her,” Peterson said. “I think a lot of it did have to do with the fact that she was Black and she was willing to hear us.”
The most common therapies available for SYNGAP-1 Syndrome are physical therapy, occupational therapy, speech therapy, developmental therapy and applied behavioral analysis therapy, according to the Syngap Research Fund.
Raising awareness
Peterson told QCity Metro that she felt being Black played a role in why she was dismissed and why finding the correct diagnosis took so long.
“I just felt like [our doctor] saw us as another number,” Peterson said.
She said she believes there’s a disparity in accessing medical treatment for Black people.
“I certainly don’t think you can say Black people care less about their children,” Peterson said.”They just don’t know what’s an option, and they don’t have competent medical care.”
Barriers such as racism, high co-pays and being under-or uninsured can all prevent Black families from accessing the correct diagnosis, Peterson told QCity Metro.
Common treatment, like the applied behavioral analysis therapy Ethan attends, can cost thousands of dollars a week.
The Petersons pay a health insurance deductible of $4,300 before insurance will cover everything.
“Depending on your situation, depending on the medication and the insurance you have, that may not be an option for you,” she said.
Peterson also said that there’s a stigma around being labeled or being put into special classes, which prevents families from getting help or diagnoses earlier.
“You get a lot of resistance and a lot of reluctance, too,” Peterson said of families’ willingness to seek help.
She encourages anyone with a child who has both autism and epilepsy or an intellectual disability and epilepsy to get genetic testing,
“You need to be doing genetic testing because these things together [are] like kind of the cornerstone of SYNGAP-1,” Peterson said. “Keep fighting and advocating for your kid [so] you can get what you need.”
Michael’s t-shirt says it all.