The National Advisory Board on Improving Healthcare Services for Older Adults and People with Disabilities (NAB) is honored to collaborate with partners like the EveryLife Foundation. This month, we have the privilege of hearing from Annie Kennedy who serves as their Chief of Policy, Advocacy, and Patient Engagement to hear more about what they’re up to and how they’re honoring Rare Disease Week.
Annie Kennedy is a respected figure in the rare disease community, known for her commitment to improving access to care and health outcomes. Her work in the community and policy-driving efforts for treatment opportunities have cemented her as a key advocate for rare disease patients.
As we acknowledge Rare Disease Day, please take a moment to read Annie’s blog and learn about the need for healthcare improvements for rare disease patients. This day stands as a call for change – change that Annie is tirelessly pursuing through her collaborative approach to advocacy.
This week marks the 13th annual Rare Disease Week on Capitol Hill sponsored by the EveryLife Foundation for Rare Diseases. Anchored around Leap Day (a rare day), this annual event brings together more than advocates of all ages, representing all 50 states, Washington, DC, Puerto Rico, Alaska, and the sovereign Cherokee nation who have traveled to our nation’s Capital to change their health outcomes through evidence-based policy.
This year’s call to action from the community includes reducing the lengthy and untenable diagnostic odyssey experienced by most rare disease community members. Fueled by journeys that have taken years – sometimes decades – many have experienced dismissals of their concerns by medical providers, hospital admissions, emergency room visits, and referrals to specialists out of state. With misdiagnoses, unnecessary and invasive diagnostic testing, irreversible disease progression, missed therapeutic windows, and often catastrophic outcomes, the rare disease community is now seeking policy changes that would help reduce these substantial diagnostic hurdles.
On average, rare disease community members spend more than 6 years searching for a diagnosis, including visits to 17 providers, and averaging 2.4 out-of-state visits.1
Advancements in technologies to screen, diagnose, treat, and manage rare diseases have the potential to dramatically shorten — or even eliminate — the diagnostic odyssey. This includes population based newborn screening (NBS), which in some cases enables pre-symptomatic diagnosis, as well as genetic and genomic testing at the onset of clinical signs and symptoms. These advancements facilitate timely diagnosis and have the potential to delay or prevent disease complications, or even death.
Even in more common rare diseases, diagnostic journeys extend many years and cause patients to miss opportunities for timely therapies and early intervention services. According to the Centers for Disease Controls and Prevention (CDC) Duchenne muscular dystrophy national surveillance program (MD STARnet), it takes an average of 2.5 years for a child to receive a confirmed diagnosis after first expressing concerns to a medical provider and the mean age of diagnosis is 5 years old.
In September of 2023, the EveryLife Foundation for Rare Diseases published the Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study .’ This in-depth analysis of the diagnostic odyssey across seven rare diseases revealed that the economic impact of medical costs and lost income for families totaled $86,000 up to $517,000 per person. The average cost was around $220,000. This includes a conservative estimate of productivity loss based on healthcare visits and does not consider travel time to medical appointments, which can be substantial for rare disease patients and their families.
Timely diagnosis is critical when there are potentially disease-altering or life-saving treatments available. Even in the absence of such treatments, timely diagnosis can have a profound impact when irreversible symptom progression is delayed, treated, or managed; this improves health and reduces the cumulative impact of the diagnostic odyssey on patients and their families. While medical costs are unavoidable when diagnosed with a rare disease, the avoidable costs attributable to delayed diagnosis represent the burden on patients and families searching for a diagnosis. Delayed diagnosis also prevents healthcare dollars from being better spent on treatment, supportive therapies, caregiver supports, and equipment that will ultimately improve quality of life.
While the definition of a timely diagnosis varies by disease, we know that timely diagnoses can improve health outcomes by:
- Providing earlier access to supportive therapies and treatment;
- Delaying disease complications and physical disabilities; and
- Lowering costs for patients and families by reducing or eliminating costly and unnecessary services or procedures.
And in pediatric-onset conditions in which newborn screening has been implemented, timely diagnoses eliminate the diagnostic odyssey, resulting in no costs before the year of diagnosis.
A multi-faceted approach to reducing the diagnostic odyssey is being championed by the rare disease community through several legislative and policy solutions. Included among them are:
- Newborn Screening program federal reauthorization and modernization efforts,
- Legislation that reduces barriers to out-of-state medical specialists for families served by Medicaid (Accelerating Kids Access to Care Act),
- Legislation that expands access to genetic counseling services (Access to Genetic Counselor Services Act),
- Efforts to support the establishment of International Classification of Disease (ICD) Codes for rare diseases (ICD Code Roadmap), and
- Much more.
The rare disease community is working to change the diagnostic journey, by championing policies and legislation that will ultimately change health outcomes.
Unified. Amplified. Stronger than ever.
1 (Hendriksz, 2013; Benito-Lozano, Lopez-Villalba, AriasMerino, Posada de le Paz, & Alonso-Ferreira, 2022; Yang, Cintina, & Pariser, 2022).
Contributor:
Annie Kennedy,
Chief of Policy, Advocacy, & Patient Engagement
EveryLife Foundation for Rare Disease