Aitkin Toddler Diagnosed with Rare Genetic Disorder

If your path has crossed with Berklee Bast, consider yourself lucky. The sweet 2 ½-year-old’s smile is contagious, and it’s impossible not to be uplifted by her joyful presence. She has a rare and incurable genetic condition, CASK Gene Disorder. Cuyuna Regional Medical Center Pediatrician Wendi Johnson, MD, FAAP, is part of Berklee’s care team. “It’s a super rare diagnosis, I had never heard of it before meeting Berklee. During medical school, we were taught that when you hear hoofbeats, think of horses, meaning if it sounds like a common diagnosis, it probably is. But when I trained with specialists, they taught us to think of zebras—less common diagnoses. Berklee, though, she’s a unicorn!”

At the time of her diagnosis two years ago, Berklee was one of 300 people in the world living with CASK Gene Disorder. Her medical journey began at three months old, when it was realized that the soft spot on top of her head had closed. A CT scan revealed that Berklee had Dandy-Walker Variant and Microcephaly. “Doctors wanted to know what had caused her soft spot to close, so we did genetic testing. That was when she was diagnosed with CASK Gene Disorder,” said Johnna Andrews, Berklee’s mom. CASK disease, also known as CASK-related intellectual disability, is a rare genetic disorder that affects brain development. It is caused by mutations in the CASK gene, which provides instructions for making a protein involved in brain development. The symptoms can range in severity, but may include intellectual disability, developmental delay, seizures, hearing loss, vision problems, movement disorders, feeding difficulties, and behavioral problems. “Everything looked normal at our 20-week ultrasound, we had no idea there was anything wrong,” said Johnna.  “With so little research available, it’s hard to know what to expect. There are kids that have the same diagnosis, and they can’t walk at all and need feeding tubes,” said Johnna. With so many uncertainties, one thing is certain.  Berklee’s family is relentless in their pursuit to make sure their sweet baby girl can reach her highest potential.

Since her diagnosis nearly two years ago, Berklee’s quality of life continues to improve. She receives physical, occupational, and speech therapy with Cuyuna Regional Medical Center’s Rehabilitation team.  “Our goal is to meet our patients where they are at and build them up. It’s not so much as looking at the diagnosis, but more the developmental delay. We’re working towards getting Berklee caught up to where her peers are at with the pace that works best for her,” said Carly Schwappach, SLP. “As her physical therapist, I’m focused on how we can improve her standing ability,” said Tonya Paul, DPT.  Berklee is currently able to stand with assistance for a few minutes and working on developing a crawling pattern.

Technology also plays a role in Berklee’s therapy. “We use a technology called ‘eye gaze’ to encourage her to look at a picture on an iPad, allowing her to express her thoughts through her gaze and help her understand the cause and effect of language. This is a supportive communication device as we target her overall communication development,” said Schwappach. Berklee’s current level of communication is babbling.

“We also have a 9-month-old son, Merrick, and I say it feels like I have twins. Due to her developmental delays, she is just starting to get into everything and so is he,” said Johnna.

Berklee’s rehabilitation team agrees with Johnna’s observations regarding Berklee’s development compared to her younger brothers. The team noted that Berklee’s communication, motor skills, and other developmental areas are comparable to those of a 6–9 month-old, despite her chronological age of 2.5 years. Unlike a typically developing 2.5-year-old who can independently perform tasks such as walking, dressing, climbing, maintaining safe body positions, and communicating with over 1,000 words, Berklee requires full support from her caregivers for all daily living skills. Her caregivers, however, do an outstanding job in ensuring that Berklee’s needs are met and actively finding ways to help her thrive.

In addition to her care at CRMC, Berklee attends regular appointments at Gillette Children’s in the Twin Cities and participates in Aitkin School District’s ‘Help Me Grow’ program. At home, therapy continues as Berklee works on building muscle strength. “She has a stander that she uses daily for at least an hour, and a gait trainer. We’re also trying to get some other equipment that insurance won’t cover, like an ‘Upsee,’ which would allow me to walk for her by attaching her to my legs,” said Johnna.

Unfortunately, insurance won’t cover any intensive therapy, meaning the family of four has to pay out of pocket. “We’re hoping to raise $20,000 at the benefit in November. That will cover the therapy, our travel, and room and board for the month-long stay in Florida to receive intensive therapy,” Johnna shared.

You can Kick Cask with Berklee at her benefit on November 2 at Moose Lodge in Aitkin. Enjoy live music, a silent auction, raffle, and a spaghetti dinner from 4:00 – 7:00 PM. Learn more about the benefit at https://www.berkleekickingcask.com/events or make a donation at https://www.berkleekickingcask.com/contribute.