Only 1,215 people have this rare disease. It changed one Johnson County family’s life

Hattie Foster looks up to the sky. She’s 6 years old. The sun is shining, and she’s buzzing with energy.

“Where’s the moon?” she asks whomever is listening.

Her older brother, 9-year-old Charlie, climbs across the nearby jungle gym at a Prairie Village playground as her younger brother, 3-year-old Will, scrapes a stick through the mulch.

To most people walking by, the Fosters look like a typical family enjoying one of the first warm Sundays of spring.

They are, in some ways. But Michael and Melissa Foster, both 41, are tired. So tired and anxious and stressed.

What most people can’t immediately see is that Hattie has a rare neurological disorder: SYNGAP1. As a result of the disease, which presents slightly differently in every patient, she has autism, epilepsy, intellectual disabilities, gastro-intestinal issues, sleep disorders and a high pain tolerance. She still wears diapers, and never sleeps through the night.

Every outing away from their suburban Kansas City home in Mission Hills can quickly take a turn. Even a trip to the park.

Sometimes she attacks other kids without warning, biting and pulling hair. Other times, her parents have to chase her and hold her down as she tries to run off. It’s all alarming, to them and to those watching. Her younger cousins are scared of her, relaxing is impossible and feeling like a burden is constant.

“I can’t say I’m sorry enough, and I want to do everything I can to say I’m sorry,” Michael Foster said.

The Fosters are pioneers in the world of SNYGAP1. They hope that someday soon, their journey could help more families.

A SYNGPAP1 diagnosis

The differences in Hattie were small, but plentiful. Her delivery took 24 hours. She didn’t breastfeed. She started crawling at 13 months. Talking took longer.

Early on, doctors urged the Fosters not to worry; Hattie would likely outgrow her delays. When she didn’t, her parents began searching for answers on their own.

In late 2020, a doctor diagnosed Hattie with autism, but the Fosters still felt something was off. They elected to do a full exome sequencing.

The call came in May 2021. Hattie was the 770th known person ever to be diagnosed with SYNGAP1, a disease even their local doctors knew little about. As of March 2023, there were 1,215 known cases, in increase of 445 diagnoses in less than two years.

Michael Foster scoured the Internet.

SYNGAP1 is the name of a protein that exists in everyone’s brain. Each person gets one copy from their mother and one copy from their father. Hattie, unlike most people, has one bad copy of the protein in addition to her good copy. She has a range of symptoms as a result. Without treatment, she’ll likely continue to have more issues as she gets older.

No daddy-daughter dances. No typical family vacations. No group ski lessons.

The realizations piled one on top of the other as Foster kept reading the words “no cure.”

Tantrums and aggression

The Fosters usually avoid taking Hattie to restaurants, where she’s apt to scream. Or the grocery store, where tantrums can erupt at any moment. Airplanes are even worse.

An empty park is one of the few places they have some semblance of control. But if a family joins the playground, Michael and Melissa Foster usually start apologizing in advance.

“She could be the sweetest girl in the world and then all of a sudden her brain fires because … she only has 50% of this protein,” Michael said. “And she could just go attack a little kid for no reason.”

On Sunday, their stop at the park came halfway through a busy day. That night, like most nights, Hattie woke her parents up after midnight wanting to change her outfit, a nightly routine they attribute to her disability. It’s difficult for any of them to get to sleep again after, leaving the Fosters in a constant state of tiredness akin to when they were parents to newborns. There’s never enough coffee in the morning.

That morning, they decided to do something they rarely do. They took all three kids to Charlie’s flag football game. Hattie made a break for the field in the middle of the game, but otherwise it was a successful outing. Changing her for the park led to a meltdown. At the park, they made a b-line for the smaller playground, away from a family that brought a balloon, which has brought on tantrums many times before.

They dread the stares from other parents.

Melissa is used to the awkwardness of other mothers confronting her about Hattie’s behavior, but it doesn’t stop the hot burn of anxiety that spreads through her core.

Thankfully, many families are open-minded and immediately understanding when the Fosters tell them that Hattie has a disability. It’s a lesson they’re teaching their sons.

“You don’t know what any family or any given person is going through,” Melissa Foster said. “Be compassionate. Give people grace.”

The isolation is constant. But since Hattie’s diagnosis, the Fosters have found a community that’s given them a hope they weren’t initially sure they’d find.

A community for research

Every week, Mike Graglia with SYNGAP Research Fund gets a call from another family trying to learn more about the grim diagnosis they’ve just been handed.

One week, the call was from the Fosters, a family desperate for community and for solutions to a disease that affects every single cell in their daughter’s body.

“Like with so many special needs kids, this family now has to reframe their entire life around Hattie,” said Graglia, whose own son, now 9, was diagnosed with SYNGAP in 2018. “They know that in the absence of medicine, their little girl is going to get sicker and sicker and bigger and bigger and always need care, and they’re reorganizing their entire life around those two thoughts.”

SYNGAP Research Fund, initially created by Graglia as a science fundraising vehicle, has grown into a “full-blown patient advocacy group” where they are helping compile patient data for research and connect families navigating SYNGAP with resources and community.

While there are officially only about 350 cases in the US, Graglia believes “there’s a heck of a lot more” patients who just haven’t undergone the genetic testing yet, since it only became diagnosable 25 years ago.

Beyond helping his own child, Graglia is optimistic the research will have a much broader reach. He hopes the implications of the work they’re funding will also help kids who have autism and epilepsy, two common symptoms of SYNGAP1.

“Think of SYNGAP as one of many genetic epilepsies that is really forcing the field of medicine forward right now, as it relates to pediatric neurology,” he said.

Right now, Graglia said, three different companies are working on developing a medication to help ease the symptoms of SYNGAP by making patients’ good copy of the protein work harder. But even if gene therapy comes — something he’s hopeful will happen within the next three years — it doesn’t mean it’s a cure.

“SYNGAP is a life sentence, it’s not a death sentence,” he said. “Our kids will not die of this disease, but they will always have it.”

Right now, for Graglia, that means worrying about the looks he gets as he takes his 9-year-old son – who, like most children with SYNGAP1, doesn’t have any physical attributes that make it obvious he has a severe disability – into public restrooms to change his diaper. He worries that someone might call the police the next time his wife has to chase after their son and hold him down so he doesn’t run into traffic.

In the past, many children with similar symptoms were hidden away. Now, it’s well-documented how harmful that is. But it means the Graglias and the Fosters are constantly navigating a social construct not built for them. They’re working to change that.

When the Fosters called Graglia, eager to help, they were the only SYNGAP family in Kansas City. He guarantees that in the next few years, they will be far from the only ones.

“(The Fosters) are at the forefront of working with other parents to accelerate, to push the boundaries of science,” Graglia said. “It’s a huge blessing. It’s a huge relief. Someone else wants to help carry the water.”

Hope for a cure

The Fosters are private people. He’s a personal injury attorney. She spent her early career as a teacher before working full time at home, helping raise their kids.

Michael and Melissa met in fourth grade at Sunday school in Johnson County. They went on one date as teenagers, but the relationship didn’t last, since neither of them was old enough to drive. They reconnected on Facebook in their late 20s, and met up when she was home from Chicago visiting her parents.

That time, the date stuck. They were married in 2012, and within a few years had the little boy and little girl they’d dreamed of.

“We thought we were going to have kids and live happily ever after,” Melissa Foster said.

Then Hattie’s diagnosis changed their lives. The Fosters decided to have one more child, Will, (SYNGAP is a genetic disease, but it wasn’t inherited from Michael and Melissa) so that their oldest son, Charlie, wouldn’t be the only person responsible for caring for Hattie once his parents die. Both their sons are neurotypical.

“Yes, we struggle and it’s awful and we hate it, but it’s also wonderful in so many ways. (Hattie) has taught us so much,” Melissa Foster said. “We learn so much from this little girl, so she is a gift. She really is. It’s so hard, but it’s also wonderful.”

“It gives us purpose to raise awareness and change the world a little bit for other families because it’s tough, and I wouldn’t want anyone else to go through the stuff that we go through,” Michael Foster added.

They celebrate Hattie’s playfulness, and her generally cheery disposition. They appreciate how social she is, and how eager she is to learn.

For the Fosters, a cure would mean everything.

“There’s not much more I can do in life,” Michael Foster said. “If we cured this disease, we can die happy people. I don’t care what else happens in my life or what other successes I have in my professional life, this would be the biggest thing.”

An uncertain future

“P for park,” Melissa Foster said as Hattie repeated her words.

“K for” Foster started; “kids” Hattie exclaimed as she sat beside her mother Sunday.

Normal moments for a mother and daughter, but ones often overshadowed by the sobering realities of life with a child with SYNGAP1.

One of their big fears now is that she’ll be bit by a dog. Hattie runs up to them and gets into their faces. She’s also apt to wander off, and doesn’t answer to her name.

Hattie lost a tooth last week, though they never saw where it went. It’s a sign that time keeps ticking along as Hattie gets stronger, taller and closer to puberty.

The stories the Fosters have heard from other families keep them up at night. Teens who attack their parents and siblings. Parents forced to call crisis intervention. First responders who might not understand.

For now, Hattie is still small enough to wrestle into clothing, which she can’t quite put on herself. They still catch up to her when she bolts out a door. They can still carry the vast majority of the burden, before handing it off to their sons.

“Down, down, down,” Hattie said as she looked at the sky, again searching for the moon. The moon sets and the sun rises. Another day ends and another begins. The Fosters pray it won’t always feel like Groundhog day.

Those who want to help the Fosters’ mission to find a cure can donate online here to Hope for Hattie, through SYNGAP Research Fund.

Resources are available for families navigating new diagnoses, like the Fosters. The Rare Disease Database gathers information on the more than 7,000 rare diseases affecting people in America. In Kansas City, The Whole Person helps connect people with disabilities to state and local resources.