For Some Families, Rare Diseases Aren’t Rare

For most people, a rare disease is something they may never encounter. For families living with one, the experience can feel isolating and overwhelming. At Gillette Children’s, however, rare diseases are part of everyday practice and families quickly discover they are not alone. As Rare Disease Day approaches on Feb. 28, Gillette Children’s is emphasizing how community, shared experience and specialized expertise make rare conditions feel far more common.

A rare disease is defined as a condition that affects a small percentage of the population (one in 200,000 people in the United States). Rare diseases are genetic and require coordinated, multidisciplinary care. Families often spend years seeking a diagnosis or treatment plan that addresses the full scope of their child’s needs.

“Families frequently come to us after long periods of uncertainty,” says Jamie Eskuri, MD, a pediatric neurologist at Gillette Children’s. “Our role is to help them understand what is happening and to provide care that is informed by our deep experience with similar rare conditions.”

Gillette Children’s has cared for children with complex medical needs for more than 125 years. This focus has resulted in a concentration of expertise in conditions that many health systems encounter infrequently.

“Rare diseases are common in our practice,” says Art Beisang, MD, complex care pediatrician at Gillette Children’s. “Because we see a large number of children with rare and complex disorders, we are familiar with the patterns, complications and care needs that accompany these diagnoses.”

Gillette Children’s provides care for a broad range of rare diseases, including, but not limited to:

• Spina Bifida: A congenital condition affecting the spine and nervous system that requires ongoing, multidisciplinary management.
• Duchenne Muscular Dystrophy (DMD): A progressive neuromuscular disorder that affects muscle strength and function.
• Rett Syndrome: A genetic neurological disorder that primarily affects girls.
• Spinal Muscular Atrophy (SMA): A genetic condition that impacts motor nerve cells and muscle control.

These conditions represent only a portion of the rare diseases treated at Gillette Children’s. Many patients have multiple diagnoses or complex care needs that overlap with rare disease categories.

Gillette Children’s uses a collaborative, team-based model to support children with rare diseases. Specialists across neurology, orthopedics, rehabilitation, complex care pediatrics, genetics and other disciplines work together to develop coordinated care plans. Families also find community with others who understand the challenges of living with a rare condition.

“Families often tell us they feel understood when they come here,” says Randal Richardson, MD, pediatric neurologist at Gillette Children’s. “They meet other families facing similar challenges, and they see providers who are familiar with the conditions they are managing. That sense of connection is important, especially when dealing with a rare diagnosis.”

Gillette Children’s also participates in research partnerships aimed at improving diagnostic accuracy, advancing treatment options and expanding knowledge about rare conditions.

As Rare Disease Day approaches on Feb. 28, Gillette Children’s experts emphasize the importance of continued awareness, research and access to specialized care. Jennifer Laine, MD, a pediatric orthopedic surgeon who specializes in treating a rare orthopedic condition called Legg-Calvé-Perthes disease, says families benefit most when they can reach providers who understand the complexities of rare conditions and can offer informed guidance.

“Whether a child has a condition that affects millions of people or affects one in a million, their condition is really important to them,” Laine said. “I am drawn to research on rare diseases or uncommon diseases because every patient matters.”