Communication Strategies to Improve Early Identification of Rare Diseases

Background:  About 25 million people in the United States have a rare disease. Muscular dystrophy and fragile X syndrome are rare genetic diseases which may take years to diagnose. These two conditions are not currently preventable so the focus turns to early identification and diagnosis. The sooner a child with a rare disease receives a diagnosis, the sooner the family can access medical care, services, and resources. Caring for a child with severe symptoms of a rare genetic disease can also have a significant impact on a family’s financial status.

Program background: 

• Parents and other family members are often the first to notice concerns about a child’s physical development. Physical developmental delays: What to look for addresses these concerns using a short, interactive online quiz and prompts parents to add specific information about their child. The result is a printable checklist with the details a parent would need to share with a clinician. Designed with Parent Project Muscular Dystrophy and the American Academy of Pediatrics (AAP), the tool mirrors AAP’s existing guidance, especially in the case of “red flags,” or behaviors that would indicate contacting a clinician immediately.

• Fragile X syndrome is one of the most common inherited causes of intellectual disability; however, general pediatricians may have little knowledge of the condition. Fragile X Syndrome Myth Busters addresses misperceptions clinicians may have about diagnosing the condition by using accurate information written for practitioners. The materials were written by clinicians who specialize in fragile X syndrome. CDC collaborated with AAP to produce and disseminate Myth Busters to AAP’s members.

Evaluation Methods and Results: 

• Physical developmental delays: What to look for reached a potential audience of 12.7 million people. Placements occurred in communication vehicles serving nurse practitioners, school nurses, physician assistants, and early childhood professionals. Dissemination is ongoing, including outreach to mommy bloggers and content creators targeting parents.

• Fragile X Syndrome Myth Busters was printed as a tear sheet in AAP News, reaching the organization’s membership of 61,000 physicians with promotion via three electronic channels. Members of AAP’s Council on Genetics, Council on Children with Disabilities, Section on Developmental and Behavioral Pediatrics, and Section on Administration and Practice Management also received the information for additional targeted distribution. AAP’s external-facing website (www.healthychildren.org) promoted myth busters through electronic newsletters to 60,000 consumers and 100,000 professionals.

Conclusions:  Health communication materials about rare diseases that are rooted in sound science can be designed to reach targeted audiences and to address critical factors promoting health and quality of life, such as early diagnosis and access to care, that require prompt cooperation between parents and clinicians.   

Implications for research and/or practice:  The communication strategies shared here can be tailored for other rare diseases for which early identification and diagnosis are critical. Similar strategies may also improve care and quality of life for individuals with rare diseases who are transitioning from pediatric to adult health care and need access to new services.