A Baldwin family confronts an exceptionally rare disease — TWICE
On the track at Baldwin High School last fall, Anna Adams clapped and chanted along with her fellow cheerleaders. “Rain — can’t stop us. Thunder — can’t stop us. Lightning — can’t stop us. And — you — can’t stop us.”
Anna’s cheerleading season — with her two brothers playing football on the field and her toddler sister, Bella, in the stands — was a high point for a Baldwin Borough family managing two daughters with an incredibly rare disease.
“We’ve really come a long way,” said Emily Burkhart, Anna’s mom. “It was a lot of, ‘We’re not sure if she’ll walk or talk, we’re not sure what her future holds. We’re not sure what will happen because we’ve never seen this before.’”
The medical mystery began at a pediatrician’s appointment when Anna, now 12, was 3 months old and the doctor noted that her head was on the small side. From about age 6 months on, Anna seemed slow to reach milestones, from sitting up to walking and talking. Every test, however, came up normal.
It wasn’t until about two years later that an MRI provided a clue, showing underdevelopment in the cerebellum and pons in her brain — areas that control movement and unconscious functions like breathing and swallowing.
Anna was referred for genetic testing, which also initially came up with no answers. She was then recommended for an extensive test that was relatively new at the time — whole exome sequencing — that could look at many more genes than had previously been possible. Because the test was so cutting edge, Burkhart had to switch insurance plans to even get it covered, and was told it could take up to a year to get results.
Months later, newly married and just back from her honeymoon with her husband, Charlie Burkhart, the genetic results came back: a mutation on Anna’s CASK gene.
An incredibly rare disorder
CASK-related disorders were only discovered in 2008, and when Anna was diagnosed in 2014 she was one of only 10 or 15 cases worldwide.
The disorder can range in severity and symptoms, which can include intellectual disabilities, eye abnormalities, weak muscle tone and seizures.
The Burkharts were told that because neither Emily Burkhart nor Anna’s dad was a carrier of the gene mutation, it would be unlikely to affect future children.
“They said the odds of passing it along were less than 1%. It’s something that was a genetic fluke,” said Burkhart. “You know, it just happens.”
In 2014, UPMC Children’s Hospital of Pittsburgh had never seen a CASK case. “I’d never heard of it,” said Robyn Filipink, a pediatric neurologist at Children’s who has worked with the Burkhart family since Anna was a toddler. “This is an extremely rare disorder. Not a lot is known about it and there aren’t a lot of cases. There’s no prognosis we can give.”
Armed with the diagnosis, but still many questions, Burkhart went through what she described as the stages of grief, from anger to sadness to just mourning a future different than the one she had pictured. One night watching television with
Anna asleep on her, she felt pulled in a different direction.
“I thought, like, no, this is not what we’re doing — we’re not doing this,” she said. “I called my mom and I said, ‘We’ve got to start somewhere.’”
A long journey
She and her mother, a nurse, began to research online. They stumbled upon a clinic at Virginia Tech that specialized in children with neuromotor impairments, generally from strokes in utero or at birth.
The clinic, run by researcher Stephanie DeLuca, had seen significant improvement in children through weeks of intensive five-hour, play-based therapy sessions.
When Burkhart contacted DeLuca, she also said she didn’t have any experience with CASK disorders. But she said they were willing to try.
At the time, Anna was in kindergarten and, while she had learned to walk, her gait was wide and wobbly, like a toddler. She was in a life skills classroom at Paynter Elementary. She couldn’t button a button or hold a pencil; she could speak, but wasn’t putting words together.
Friends held fundraisers for the Burkharts, helping them to afford the cost of therapy and travel to Virginia Tech’s Fralin Biomedical Research Institute in Roanoke, Va., 340 miles away.
Not only does DeLuca’s therapeutic model stretch for hours every day, but it takes place where the families are staying, such as in a hotel or an Airbnb, so that the setting resembles home as much as possible. And while it looks like the therapist is playing with the child, they are actually following a detailed skill path.
“We do activities that look very play-based, but therapists are explicitly trained in how to encourage movements and skills from children in a progressive level,” said DeLuca.
In Anna’s case, Burkhart was nervous at first for how her daughter would handle so many hours of intense therapy in a row. At the end of the first day, not only was Anna happily playing, but she was matching colored gadgets and stringing words together.
“I’m like, no way, how did you get her to do that?” said Burkhart. “And I’m laughing, crying, because she’d never done that. Those were the skills we were trying to work on, and that was just day one.”
“One of the things that I remember vividly is she started to put words into sentence structures for the first time in her life,” said DeLuca. “She asked for a french fry and her mom said, ‘You don’t understand — she’s never asked me for anything.’”
Anna blossomed so much after returning home from Virginia Tech that she was moved into a mainstream classroom, with “push-in” support.
The Burkharts began advocating for CASK, getting involved with the CASK Gene Foundation, where Emily Burkhart is now treasurer and financial director. She also mentors other families with children with CASK-related disorders and has recommended DeLuca’s lab at Virginia Tech, which has now treated multiple CASK cases.
The Burkharts had two sons — Brantley, now 6, and Austin, now 5 — both neurotypical and active in sports from soccer to wrestling to football.
And almost exactly two years ago, they had a daughter, Bella.
‘Getting struck by lightning in the same place twice’
Immediately after Bella was born, as the nurses handed her to Burkhart, “I just had this, like, lightning bolt,” she said. “I can’t describe it. Because the first thing we did was inspect her head. And she had a more narrow head and these really chubby cheeks.”
The next few months played out on repeat: a pediatrician’s appointment where her head measured a little small. A visit to UPMC Children’s. By this time, however, technology had improved to where her underdeveloped cerebellum and pons were visible on a CT scan. Burkhart got those results on her phone while still at Children’s, changing Bella’s diaper in the bathroom.
“I had that same feeling of like, life leaving your body,” she said. “I was in the hospital crying and hysterical.”
She called Filipink, the neurologist she refers to as the captain of their ship, who stayed late at Children’s that day to console her.
Working with Suneeta Madan-Khetarpal, a clinical geneticist at Children’s, the Burkharts again did whole exome sequencing, which revealed that Anna and Bella somehow had the exact same mutation even though the girls are half sisters and neither Burkhart nor either girl’s father is a carrier.
There are now about 130 known cases in the world, and only one other sibling pair. The girls are the only cases in the Pittsburgh area.
The situation is so unlikely that “doctors were coming in and saying you have a better chance of playing the Powerball and hitting it twice, or going outside and getting struck by lightning in the same place twice,” said Burkhart. “We don’t pass a Powerball machine without laughing, you know, because we’re like, we should probably play it.”
At least, thought Burkhart, she had experience.
“In our minds, as these special-needs parents, we thought, she has the same thing Anna does — she’s going to be as high functioning and we can get Bella even more help than we did for Anna,” said Burkhart. “We couldn’t be more wrong.”
Bella is a happy 2-year-old who loves sparkles and SpongeBob. But thus far, Bella’s CASK-related disorder seems much more severe. She has seizures, unlike her sister, as well as serious feeding issues requiring a feeding tube and more limited motor function. She has had multiple surgeries and several scary ambulance rides and hospitalizations, said Burkhart.
The Burkharts were determined to take her to Virginia Tech as early as possible, and their community pitched in once again with fundraisers, most notably a spaghetti and meatballs dinner at their church, St. Albert the Great in Baldwin.
At Virginia Tech for a month last April, the Burkharts traded off with each other, juggling care for their three children at home. Emily Burkhart’s mother, who retired from her nursing career to help care for Bella, pitched in as well.
Bella worked with Dory Wallace, the same therapist at Virginia Tech that Anna saw, and made immense progress working on sitting up — a crucial step in how she interacts with the world.
Before the clinic, she wouldn’t reach for anything.
“By the end of it, she was paying attention to books, she was reaching for toys on her own, they even had her turning the pages to books,” said Charlie Burkhart.
Therapists at Virginia Tech also wrote up programs for both Anna and Bella to continue with their parents and also with therapists in Pittsburgh.
Therapists are using the program with Bella to continue her progress toward sitting up independently, as well as pinching and other fine motor skills. The Burkharts are hoping to be able to take her back to Virginia Tech for more therapy when she gets older.
“One of the important parts of what this family demonstrates is that trusting your doctors is one thing, but also following up,” said Filipink. “If mom wasn’t persistent, we could still be wondering, what’s wrong with Anna. Now she’s set up all this incredible knowledge and she helped establish so much of this that her next child was able to benefit.”
As for Anna, the progress in her motor skills has been displayed on the sidelines of Baldwin youth football games. At the beginning of the season, Emily Burkhurt was surprised when the president of her sons’ football league asked why Anna wasn’t a cheerleader.
“I said, ‘Can she be?’ And she looked me right in the
face and said, ‘Why can’t she be?’”
With her motor limitations, Burkhart knew that Anna wouldn’t be able to fly through the air or do sophisticated stunts. But Anna wanted to try it out.
“The cheer coaches were really excited,” said Burkhart. “They sat down with me, they talked about CASK, they asked questions, and she cheered, front and center.”
Though many of the other girls on the team cheer competitively, with complex acrobatics and choreography, they made sure that Anna could participate in the routines at her skill level. They have also included her in shopping trips to the mall and making TikToks and middle school text threads.
At one game, the coach texted Burkhart to grab a tissue and look down. She saw Anna get lifted up in the air by the rest of the team, with coaches standing by below her.
“The whole place was crying,” said Burkhart. “It was just beautiful. I remember emailing it to Dory and Dr. Filipink and Dr. MadanKhetarpal and I just said, ‘Look, look at our girl.’ Because it’s kind of like your team, and when your team does something really good, you celebrate.”