Children's Mercy opens area's first Angelman Syndrome Clinic
Four-year-old Maddie loves cheese and fruit snack gummies, being right in the middle of the action, and playing with her twin sister, Kellie, and older brother, Colin. When she was diagnosed with Angelman syndrome, it changed the course of her family’s life forever, setting them on the path to help launch the area’s first Angelman Syndrome Clinic at Children’s Mercy.
“She is the happiest kid you’ll probably ever meet,” said her dad, Patrick Sargent. “The smiles she exudes is what gives everybody their energy to get through a lot of the hard stuff.”
What is Angelman Syndrome?
Named after the physician who discovered the disorder, Angelman syndrome is a rare genetic disorder caused by a mutation in the UBE3A gene on the 15th chromosome. Children with Angelman syndrome are known for their generally positive demeanors. They also have developmental delays, trouble with movement and balance, and speech impairments. Many experience seizures and a wide range of other symptoms and complications.
“Maddie is nonverbal, but she’s incredibly communicative,” said her mom, Laura Sargent. “Her physical development has been really impacted by where her deletion is. We were told she likely wouldn’t walk. She walked! She’s starting to climb stairs.”
After her diagnosis at Children’s Mercy in January 2020, Maddie’s family went to Chicago and Boston to seek out Angelman syndrome specialists. Over the years, they’ve developed “an army of caretakers.” Laura, a pediatric nurse practitioner who formerly worked at Children’s Mercy, has been instrumental in seeking out the best treatment for Maddie and navigating the insurance labyrinth.
“Having a background in health care has been immensely helpful,” said Laura. Maddie currently attends a therapeutic pre-school five days a week; has physical, speech and occupational therapy three days a week; aquatic therapy twice a week; and one-on-one Applied Behavior Analysis (ABA) therapy in-home. Despite being happy with the specialist care they were receiving out-of-state, they were longing for expert help closer to home.
“Maddie was hospitalized at Children’s Mercy in July of 2021,” Laura said. “While we had these wonderful specialists in Denver and Boston that could be a phone call away, they weren’t in the hospital. When Maddie needs emergent care, I can’t pick her up and take her to Boston. I can’t take her to Denver. I needed somebody at Children’s Mercy.”
Patrick agreed, adding that even getting to regular annual appointments was challenging enough.
“It’s not easy to travel with special needs kids, especially when you’re taking a 3+ hour flight or 8+ hour drive,” Patrick said. “Logistically, it’s tough.”
The Sargents began meeting other Angelman families in the area and found many didn’t have the resources to travel to specialists or were struggling with the insurance process. “In some cases, their kids just weren’t getting care, and that’s heartbreaking,” said Patrick.
The Sargents wanted more for Maddie, and they wanted more for her peers in the area. So they decided to do something about it: explore starting an Angelman Syndrome Clinic at Children’s Mercy.
Collaborating for Better Care
The Sargents started a nonprofit, Maddie’s Mission, and held a block-party fundraiser. They met with Diane and Terry Gallagher, whose daughter, Elizabeth, also had Angelman syndrome, to discuss their shared passion for supporting care and research. They talked to their contacts at the Angelman Syndrome Foundation.
Meanwhile, the Children’s Mercy Enterprise Program Management Office (EPMO) was doing its own research, confirming the need for an Angelman syndrome clinic in the area. There was indeed a big gap in coverage: families with the means were traveling all day to get to specialty clinics; families without were making do. Children’s Mercy was already on a path to creating a solution and philanthropic support could accelerate making it happen….a win-win situation!
Gifts from the Sargents, Maddie’s Mission, the Gallaghers, and the Angelman Syndrome Foundation created funds, including one that is endowed, to support a new Angelman Syndrome Clinic and Angelman syndrome research efforts. (If Angelman syndrome is cured in the future, the funds will shift to support other neurology and rare disease needs.)
“The passion of the Sargent Family has been extremely moving. The impact their caring philanthropy will have on patients and families visiting the Angelman Syndrome Clinic and seeking research-based answers is astounding,” said Kate Migneron, Director, Philanthropic Giving. “In addition to the funds for the clinic, having an endowed fund means it will live at Children’s Mercy forever and says we’re going to have this care here for the long run. That means a lot to patients and their families.”
“A True Partnership”
J.B. Le Pichon, MD, PhD, FAAP, Professor of Neurology, has made collaboration a priority in his career, working with Nigerian physicians on research and partnering with community physicians and families to bring epilepsy care to rural areas of Kansas through Project REACT.
“I’m really interested in these types of partnerships where it’s not purely physician driven,” said Dr. Le Pichon. “There is a true commitment, and everybody’s involved.”
Based on families’ needs, The Angelman Syndrome Clinic at Children’s Mercy is designed to be a medical home for area patients and a hub for innovative new research on the disease.
“A medical home is where all of the child’s needs are addressed,” said Dr. Le Pichon. “You see the child as a whole. That’s really important for children with Angelman syndrome because their needs are so broad.”
The monthly, half-day clinic is based in Neurology and hosts 17 patients already. Every patient is seen by Dr. Le Pichon, and the clinic coordinates visits to participating subspecialties (Genetics, Nutrition, Gastroenterology, Orthopedics, Speech and Language Pathology, Developmental and Behavioral Health, and Physical and Occupational Therapy) according to each child’s needs.
“Every child who enters the clinic will be offered the option of participating in a research study,” said Dr. Le Pichon. In addition to Children’s Mercy Research Institute’s Genomic Answers for Kids study and an effort to study Angelman syndrome’s phenotype expression based on genotype, Dr. Le Pichon has identified several therapeutic studies that he and the clinic’s Patient Family Advisory Council will review for potential integration.
“Parents are going to have a real say in terms of what [research we pursue],” said Dr. Le Pichon. “I'll be presenting to them, and then we’ll be making the decision together.”
Hope for the Future
Other institutions are conducting promising research on Angelman syndrome, and the Children’s Mercy Research Institute is eager to join the effort.
“I think we have the potential to become a center of excellence for Angelman syndrome,” said Dr. Le Pichon, agreeing. “In order for that to happen, we are planning to develop some solid research through the CMRI.”
Patrick echoed them, saying that there is hope for a cure one day. “Access to research is a game-changer not just for us, but for families in Omaha, Des Moines, Arkansas, all of Kansas, all of Missouri.”
Being able to participate in innovative studies is just one aspect of the well-rounded care the clinic provides. Young people with Angelman syndrome now have a home at Children’s Mercy, where they can get expert, holistic, consistent care. “And be home for dinner right after your appointment!” Patrick said.
“I hope that all the kids that have Angelman syndrome in the region have access to the same level of care that Maddie has,” said Laura. “We would love everyone to have equal access.”