10-month-old Lucy and her family find strength and support from an “A team” of rare disease experts
Ask Danielle and Zack Meyer to describe their 10-month-old daughter, Lucy, and you’ll get no shortage of heartwarming answers. “She loves to dance in our arms. She loves music, songs, and singing. She is the sweetest, most easy-going baby,” Danielle said.
But after a minute, the tone of the conversation changes as Danielle and Zack, first-time parents, start to reflect on a different and unexpected part of their experience. “She’s also tough, and forgiving, which helps for all our stays in the hospital,” Danielle said.
Last year, when Lucy was just 3 months old, she was diagnosed with Noonan syndrome, a rare genetic condition. It can cause a range of symptoms, including heart defects, growth and development challenges, increased cancer risk, and other issues. Noonan syndrome is one of more than 7,000 identified rare diseases that all together affect 25 to 30 million people in the United States.
Even in the rare disease community, Lucy’s condition stands out. She has a variant of Noonan syndrome, called autosomal recessive LZTR1-related Noonan syndrome. It is so uncommon, only 24 children have ever been documented in medical studies, according to William Dobyns, MD, a geneticist with M Health Fairview Pediatrics and a professor at University of Minnesota Medical School.
The Meyers met Dobyns in June 2023, after months of medical appointments, procedures, and hospital care that started when Danielle’s 20-week ultrasound found a heart defect, cystic hygroma, and other medical complications. When Lucy was born on Mar. 28, 2023, during an emergency Cesarean at Maple Grove Hospital, her care team suspected Noonan syndrome. She was referred to the Rare Disease Center at M Health Fairview Masonic Children’s Hospital, where Dobyns confirmed the diagnosis.
Lucy’s LZTR1 variant of Noonan syndrome comes with a very high risk of hypertrophic cardiomyopathy, when the walls of the heart thicken and become stiff, making it harder for the heart to pump blood to the body. Lucy also has a much higher chance of developing acute leukemia in childhood. Though Lucy is currently cancer-free, she does have cardiomyopathy and faces other challenges.
To help handle these ongoing needs and risks, Dobyns assembled a team of experts, including Nathan Rodgers, MD, a pediatric cardiologist for heart care, and Lucie Turcotte, MD, a pediatric hematologist/oncologist, for cancer risk management. Both Rodgers and Turcotte are also faculty members at University of Minnesota Medical School.
“She was a high-enough risk that I wanted to put together an A-team to be poised and ready to find any problems early because that’s when it's going to be more treatable,” said Dobyns. He describes his role as one part researcher or detective – making the diagnosis, digging through relevant medical studies, and connecting with other doctors across the world to make sure Lucy gets leading-edge, comprehensive care. But he’s also one part team quarterback, bringing the right specialists together to address all of Lucy’s needs.
For the Meyers, who had never heard of Noonan syndrome before, Dobyns’ thorough approach, advocacy, and ability to make connections with other specialists have been game changers. Lucy and the Meyers have also received regular support from Tanya Wright, a rare disease care coordinator who helps the family do everything from tracking appointments to touring Masonic Children’s Hospital.
“Everyone that we’ve come across has just been remarkable,” Danielle said. “It’s so comforting as a parent to have doctors who care as much as you do. With Dr. Dobyns, I couldn’t ask for a better person to be leading Lucy’s rare disease care.”
“Lucy’s family is lovely – despite so much information and so many specialists being a part of Lucy's care, they were patient and calm, they asked great questions,” said Turcotte. “I let families know our team is always available to answer questions, talk through concerns or review our role in their child's care. We try to provide multiple ways for families to connect with us, so they never feel alone or unsupported.”
The care team’s planning, dedication, and careful monitoring has helped Lucy and her family find some stability, despite several recent infections that led to Lucy being hospitalized. If Lucy’s symptoms worsen in the future, her physicians will considering using a drug called trametinib that may be able to reverse her hypertrophic cardiomyopathy, though the medication does have potential for side effects.
Knowing the team has a plan, and that everyone is coordinating, means Zack and Danielle can breathe easier. “It’s just so reassuring and makes it easier to get through each day,” Zack said. “We can focus on her and all the normal things that aren’t related to her medical care.”
And even though Lucy’s type of Noonan syndrome is exceptionally rare, Dobyns and Rodgers are quick to point out that her team at M Health Fairview Masonic Children’s Hospital, one of only 31 Rare Disease Centers of Excellence across the nation, is well-equipped to handle it.
Having this institutional knowledge is particularly important, Dobyns said, because the impact of the thousands of rare diseases and all their variants worldwide means that, collectively, they aren’t as rare as you might think.
“I think that there are, particularly in pediatrics, just a huge number of rare diseases that we often don't fully recognize,” Dobyns said. “They’re extraordinarily diverse. But if you add all the rare diseases together, they might outnumber common diseases.”
