A child with a rare disease can feel misunderstood and alone. When it comes to forming a community and making connections, awareness goes a long way.
Rare Disease Day was created with that community in mind. Since 2008, it has been a globally-coordinated effort to bolster an international community and work towards equity, healthcare, and access to diagnosis and therapies for those living with rare diseases.
Celebrated each year on Feb. 28—or Feb. 29 in leap years, a nod to the rarest day—it’s an opportunity to learn more about these conditions and the research being done on them today. Read a local story about Moebius Syndrome, a rare condition affecting the facial nerves, or visit rarediseaseday.org to find an in-person or virtual event near you.
Dr. Erika Augustine (MD, MS) Associate Chief Science Officer and Director of the Clinical Trials Unit at Kennedy Krieger Institute, shares her expertise below.
There are more than 300 million people worldwide who have a rare disease. Has this community been growing?
There certainly has been growth in the number of conditions recognized as rare diseases, now numbering as many as 7,000 to 10,000 unique conditions by some estimates. The community itself is growing and organizing around specific diseases and in national efforts to support all people impacted by rare diseases. The National Organization for Rare Disorders and Global Genes are some of the national organizations leading the way. The more recently formed Rare Disease Diversity Coalition is leading efforts to address health disparities in rare diseases, especially those faced by people of color.
What rare conditions are gaining renewed attention among the COVID-19 pandemic and why?
For many, daily care and support for their rare condition requires access to health care providers, specialized services, medications and other supplies. Much of this access was disrupted or delayed during the pandemic. For children whose physical and occupational therapy or other services are received at school, they went without when schools closed. Add to this the direct risk for severe COVID infection that is important for many people with rare diseases: lung diseases like cystic fibrosis, congenital heart disease, developmental or neurological conditions, conditions that require organ transplantation, immunocompromised states and many others.
COVID-19 has had profound impacts on the rare disease community. Significant attention has been raised related to promoting needed access to resources, limiting isolation, recognizing anxiety and depression and the potential for risk related to infectious or other impacts beyond the rare disease itself.
How important is clinical trial participation in supporting those living with a rare disease?
While there are many treatments that can help manage symptoms, only 5% of rare diseases have a proven, approved therapy that changes the course of disease. Clinical trials are the path to creating and testing new therapies. Having trials available and having the option or choice to participate after risks and potential benefits are weighed is incredibly important. Without trials and without people who are aware of and enrolling in the trials, we can’t create new therapies.
What rare disease research has been done at Kennedy Krieger? What have we learned?
Rare disease research is a high priority at Kennedy Krieger. We have many specialty clinics and centers of excellence focused on people impacted by rare diseases. As part of serving this population, it is critical that we lead and work with others on research that improves knowledge about the cause, natural history and potential treatment of rare diseases.
Just a few examples: Drs. Anne Comi and Jonathan Pevsner led research that led to the discovery of the genetic cause of Sturge Weber Syndrome. Drs. Amena Smith, Christina Mertz and Ali Fatemi are leading research into the cause and symptoms of a form of leukodystrophy called LBSL (leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation).
Dr. Jacqueline Harris is leading a clinical trial of a dietary intervention for a developmental condition called Kabuki syndrome. Their work has and will shape the ways we identify and make diagnoses of these conditions, the kind of guidance we can provide to families about symptoms and how they unfold and the treatments we have to offer. Although I have mentioned only a few names, there are many researchers at Kennedy Krieger working to improve care options for people with rare diseases.
What research and clinical trials are being done now?
The Kennedy Krieger Institute has a Clinical Trials Unit that works with leading investigators across the Institute to conduct clinical trials. There are trials across the spectrum from very early trials to trials intended to determine precisely how effective a new intervention is and trials that continue to monitor for new knowledge after a new drug is approved by the Food and Drug Administration (FDA). We lead and support trials for many rare conditions, including Batten Diseases, Fragile X Syndrome, Duchenne Muscular Dystrophy, infants with stroke, tuberous sclerosis, as well as more common conditions such as Down syndrome, anxiety impacting people with epilepsy, bipolar disorder and others.
What should people know about living with a rare disease?
There are resources and information available. Advocacy organizations, centers of rare disease expertise and a peer community can be especially useful for support, knowledge and practical information about navigating the experience of having a rare disease, currently available treatments and emerging research and clinical trials.