The author (center, gray sweater) with families attending Albert Einstein College of Medicine’s Rare Disease Day 2020.
The first family arrived at Einstein around 9:30 a.m. on a Thursday in February. Despite having taken an eight-hour flight from Surrey in southeast England, its members were bright-eyed, spirited, and filled with hope. They entered the Price Building, excited finally to meet the families with whom they had shared their many successes, anecdotes, and heartaches over the years.
Clad in blue sweaters bearing the words “Kind, Determined, Miraculous, Confident, Caring, Courageous, Creative, Compassionate,” the second family arrived, this one from Indiana. Making their way to the Price conference room, its members walked past a third family in the lobby, who had traveled from Washington the day before.
As the second family entered the conference room in matching apparel, the significance of the words embroidered on the sweaters was immediately grasped by the first family. The words elaborated on the name of the KDM5C gene, which had brought them, and 10 other families they would soon meet, to Einstein for Rare Disease Day (RDD). RDD is an annual event held at Einstein and other institutions around the world to recognize and raise awareness for the more than 6,000 rare diseases affecting the lives of more than 300 million people.
Each family had a child who was affected by a rare disease caused by genetic alterations in the gene KDM5C. These alterations can lead to a rare heritable form of intellectual disability (ID). These twelve families had never met, yet had known one another for years through a Facebook group called the KDM5C Support Group. Founded in 2018 by parent Amy Robl, the Facebook group currently has more than 170 members, including research scientists, genetics educators, and physicians. Serving as a haven for many KDM5C families, the group has provided hope and support for its members and is an excellent example of how social media can be used to bring together those who might otherwise have nowhere else to turn.
Unexpectedly, I had helped bring these families together for the first time.
Reaching Out Beyond the Lab
I entered Einstein’s Medical Scientist Training Program to further my goal of becoming a physician-scientist and bridge the gap between benchtop research and clinical practice. The power to model human neurological diseases to better understand the molecular mechanisms contributing to neuroanatomical pathologies and behavioral deficits had inspired my curiosity. It led me to join the laboratory of Julie Secombe, Ph.D., for my thesis research. In the Secombe lab, we use the fruit fly to model ID disorders. We are specifically interested in how patient mutations in the transcriptional regulator KDM5C contribute to ID pathogenesis, and how these mutations affect the functioning of different protein domains.
What I realized during my Ph.D. training was that it is quite easy, through the plethora of failed experiments and uninterpretable results, to lose track of the significance of one’s work. This is why, even as a sixth-year M.D./Ph.D. student, I find it incredibly useful to remind myself of what makes this research so important. Many people are surprised that an organism as simple as a fruit fly can be a powerful model to study the most-complex human diseases. Yet approximately 75 percent of human disease-causing genes, including KDM5C, have highly conserved and functional orthologs—genes from different species believed to share a common ancestor. My need to connect my research to those it might benefit led me to seek out the KDM5C Support Group on Facebook. Realizing the potential impact of this event, I invited the group’s members to Einstein for RDD so that they could have the opportunity to learn about current research and hear from other families on similar journeys.
A Coordinated Effort
Within minutes of my posting the invitation to the group, there was an overwhelming interest in attending. That warm welcome led me to reach out to Steven Walkley, Ph.D., D.V.M., the director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, about perhaps attracting one KDM5C family whose members could share their experience with the Einstein community. However, with twelve families wanting to attend, it immediately became clear that we could expand the event’s scope. To our usual offerings, we added a first-ever “pre-RDD” event where families could meet one another in person and ask questions of a panel of clinicians, scientists, and rare-disease foundation founders.
In coordination with Lisa Shulman, M.D., interim director of the Rose F. Kennedy Children’s Evaluation and Rehabilitation Center (CERC), and her team, we put together a morning program for the group, including a meet-and-greet luncheon and a “self-discovery” workshop for the KDM5C-affected children and their siblings.
Additionally, at the Facebook group’s request, we assembled a panel of specialists to answer questions and address concerns. The panel consisted of Dr. Shulman, Lisa Underland, D.O. (a pediatric endocrinologist at Montefiore), Christina Vallianatos, Ph.D. (a genetics education specialist at the Jackson Laboratory for Genomic Medicine), Jessica and Mike Foglio (founders of the Salla Treatment and Research Foundation), and Molly O’Neil, M.P.H. (senior research coordinator at CERC). The panel discussed the results of an Einstein Institutional Review Board–approved survey we had constructed and sent to families prior to RDD to gather information on children affected by KDM5C.
The main afternoon session featured the KDM5C Support Group’s founder, Amy Robl, her husband Chris, and their daughters Gabby, 13, and Ashley, 10. Gabby, who was diagnosed with KDM5C-associated ID at the age of 10, discussed the challenges she continues to face and the incredible network of support she has among her friends and family.
By the end of the day, the families had made new friendships and were looking forward to meeting again. The physicians and researchers came away with a greater understanding of the challenges the families faced. It was a true honor to successfully work with and meet the families who graciously welcomed me into their group. Back in the lab, I now recognized a deeper meaning and attachment to my research, along with a renewed determination to help the people I’d met that rare winter day.
