Witnessing your child deteriorate from a rare disease before your eyes is a pain no parent should have to know. For Michele Sloan, mother to a child with a rare disease called H-ABC, this nightmare has been a reality for years. And when the pandemic came, the world closed in around her little family in addition to shutting down on the outside.
For Michele, being unable to have childcare in the home to allow her adult social time–or just alone time–hit differently. “Before the pandemic, I was able to live my life pretty normally. We would have sitters come in if we wanted to go out or get things done. I’ve given up a lot of that. For one thing, I want to be with her. But mostly, I need to make sure that she’s safe,” Michele said.
The Parent: Driven to Find a Cure for H-ABC
Michele Sloan, founder and director, Foundation to Fight H-ABC
Born in 2005, Elouise Sloan initially showed no symptoms of any neurological disorders. She walked, ran, and played like other children her age. When she was 3, Elouise began demonstrating odd movements. An MRI showed delayed myelination and an undersized cerebellum, leading to an exhausting journey of testing. Ultimately, she was diagnosed with hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC), a rare genetic disorder with no known cure.
Michele Sloan and her husband, Oscar, started the Foundation to Fight H-ABC in 2015, shortly after their daughter was diagnosed. They were driven to action with the knowledge that other children and families experience the same uncertainty.
Over the years, Elouise’s condition has worsened. She can no longer stand, bathe, eat, get dressed, or walk independently. Her inability to speak clearly impairs her communication. A condition called dystonia causes uncontrolled muscle movement in her arms and neck, which is extremely painful.
As there is currently no cure for H-ABC, doctors can only treat the symptoms, not the cause.
“We’re lucky she has a milder variant of the disease,” said Michele. “And also, grateful for what parents of children affected by H-ABC find time and time again: that she’s a happy kid.”
Elouise’s story is just one example of how H-ABC evolves in a child. To date, approximately 150 children have been diagnosed with this disease, and that number is on the rise.
“Success of a grassroots nonprofit like us is so often defined by the notoriety or a known name behind a cause. We live off hope that someone will come forward to help. Meanwhile, we will stay on task and try our best. The future for our H-ABC children is so fragile. Each parent is hoping and praying for answers. We live from one day to the next, caring for our child, and trying not to think of the future,” said Michele.
The Scientist: A Developmental Geneticist Tackles the Genetic Basis of H-ABC
Karel F. Liem Jr., MD, PhD, associate professor, Yale Pediatrics
Karel F. Liem Jr., MD, PhD, is an associate professor at Yale Pediatrics who studies mutations that affect the development of the mammalian embryo. As a basic research scientist, Liem’s interests are mainly in the molecular and cellular mechanisms of development and genetic diseases. His forward genetic approach allows him to induce and identify mutations in critical genes that affect the development of the mouse embryo. As much of mammalian development is conserved, these insights can be applied to human embryogenesis.
“I induce and clone genetic mutations that affect the development of the mouse embryo, and I identified one that results in neurological defects in young mice. Through this genetic process, I isolated a mouse line that developed interesting neurological phenotypes— cerebellar defects, myelination defects, motor defects,” said Liem. “I have a pretty deep understanding of the mechanisms of H-ABC because I was studying the neurological phenotype caused by the mutated gene before the gene was associated with H-ABC.”
While Liem and his team study several different mutations in his lab, he has been looking closely at this particular mutation for years. H-ABC is a rare disease, so funding is paramount. Dollars are needed to further fund Liem’s research.
Liem admits his original interest in studying genetic mutations in the mouse was to understand how the nervous system develops. And then, he met the families.
“I went to a conference, and the day after the scientific portion there was a family portion where the families came for an information session,” he said. “There was this room full of H-ABC patients and their families, and I got to see what this disease does. It gives me more inspiration to work in a different way with the mice. While I still strive to understand the basic mechanisms, I’m now motivated by asking myself, how do we possibly cure this?”
Liem is currently studying his mouse lines to better understand the mechanisms of the disease and to develop therapeutic strategies that will also apply to patients. The principles uncovered by studying this very rare disease will likely apply to neurodegenerative diseases in general.
The Executive: Reinvigorating a Family Legacy Through H-ABC Research
Mark Fitkin, executive and donor
Yale Pediatrics is one of the nation's premier institutions devoted to improving our understanding of the causes and treatments of disorders that affect children through research. Nearly a century ago, philanthropist Abram E. Fitkin donated $1,000,000 to Yale University in memory of his oldest son, Raleigh. His remarkable gift supported the construction of a 125-bed hospital and the care and treatment of children. In 1928, he may not have realized the significance of how his gift would enhance the field of pediatrics—at Yale and around the world.
In the time since his donations, buildings and spaces rose boasting Fitkin’s namesake—you might be familiar with Fitkin Amphitheater, where Yale Pediatrics hosts grand rounds, for example. And there’s a building called the Fitkin Memorial Pavilion at Yale, which houses several research labs—including Liem’s.
Mark Fitkin, Abram's great-grandson, spent his life on the West Coast, growing up in a family that lived and worked independent from the wealth of its lineage. After retiring from a 33-year career in commercial real estate, Mark was traveling in the Northeast when he made a point to tour some of the Yale spaces that his great-grandfather had influenced. Around this same time, he connected with an old friend who happened to sit on the board for the Foundation to Fight H-ABC. She told him about the research being done around H-ABC at Yale Pediatrics by Liem. It was during this opportune series of events that Mark decided to reignite his great-grandfather’s philanthropic spirit.
Mark and members of his family established a fund that provides essential support for Yale Pediatrics’ research toward our goal of novel and more effective treatments for patients. Private dollars give Yale Pediatrics stability, speed, and flexibility to test new ideas that one day will eradicate childhood diseases—like H-ABC.
“Given the legacy our family has with Yale School of Medicine, it’s an honor for three levels of our living generations to reconnect and provide some assistance. I’m excited to explore how we can deepen and broaden the nearly 100-year relationship that my great-grandfather initiated,” Mark said. “The work Dr. Liem and others are doing is critical, and his research is promising. With rare diseases like H-ABC, funding is vital.”
Raising Awareness for Rare Diseases Like H-ABC
It’s a straightforward and well-known equation: funding + research = a cure. For Michele, though, it’s not so simple. Because H-ABC is so rare, awareness is a challenge.
“The fact there are no programs or financial incentives to help potential investors advance research forward to help kids with rare diseases is tragic,” she said. “Instead, grassroot nonprofits like us spend countless hours away from our children to try to figure out the answers. It’s heartbreaking that rare diseases like H-ABC get so little attention. Every child deserves a chance. We are very grateful to Yale and the Fitkin family for their research interest in our efforts.”
Give to Yale Pediatrics Research here (type Pediatric Research or H-ABC Research in the text box).
Mark Fitkin retired from CBRE, a commercial real estate services and investment firm, in 2019 as global head of strategic accounts. Since 2019, he has served as COO of NBP Capital, a private vertically integrated commercial real estate investment management firm. He is the great-grandson of philanthropist Abram E. Fitkin. He resides in Oregon with his family.
Karel F. Liem Jr. graduated with a bachelor’s degree in Biology from Harvard University. He received his MD and PhD degrees from Columbia University. He has additionally trained at the Sloan Kettering Institute and University College London. He became a member of the faculty at Yale School of Medicine in 2012, studying mouse mutations that cause developmental defects and disease.
Michele Sloan is co-founder of Foundation to Fight H-ABC, established in 2015 as a public 501(c)3. Inspired by her daughter who lives with H-ABC, a condition caused by a mutation of the TUBB4A gene, Michele has worked tirelessly to promote awareness around this very rare disease. Learn more at https://www.h-abc.org/ or contact Michele directly.
Originally published July 28, 2021; updated May 10, 2022.