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SDS & Science Snapshots (2023-11-18)

In this issue: New study reports the economic impact of a delayed diagnosis is up to $517,000 in avoidable costs per patient in rare diseases

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

Groundbreaking Study Reveals Staggering Economic Toll of Delayed Rare Disease Diagnosis: Report Calls for Urgent Advancements in Policies and Technologies

In our Science Snapshot earlier this month, we discussed the diagnostic odyssey many individuals with Shwachman-Diamond Syndrome experience. Because these long diagnostic journeys are not uncommon across rare disease, there are organizations such as The EveryLife Foundation for Rare Diseases (and SDS Alliance!) who are committed to performing and funding research crucial to shortening this time to receive a diagnosis.

In September, the EveryLife Foundation released one of the first studies of healthcare resource utilization and costs for patients with rare disease. The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study is a landmark report showing the cost savings of receiving a more timely diagnosis in rare disease.

This study was performed as a follow-up to the National Economic Burden of Rare Disease Study and provides an in-depth analysis of the avoidable costs associated with seven rare diseases: Adrenoleukodystrophy (ALD), Duchenne muscular dystrophy (DMD), Fragile X syndrome (FXS), Generalized myasthenia gravis (gMG), Pompe disease, Severe combined immunodeficiency disorder (SCID), and Wilson disease.

Although Shwachman-Diamond Syndrome was not included in the group of diseases focused on in this study, these results provide evidence to support federal and state policies expanding diagnosis and treatment options for all rare diseases. Importantly, the results from this study were presented on Capitol Hill during the Rare Disease Congressional Caucus Briefing in September.

What This Study Found

Some key findings from this report include:

  • On average, it takes more than 6 years and nearly 17 doctor visits, hospitalizations, and other health-related trips, to receive a rare disease diagnosis after symptoms begin.

  • The diagnostic odyssey costs individuals and families over $220,000, on average, in avoidable medical bills and lost income — and as high as $517,000 across the 7 diseases studied.

  • There is immense value in timely diagnosis and newborn screening which improve outcomes, both medically and financially.

Shortening the diagnostic odyssey saves money for individuals, caregivers, and the healthcare system, while improving health outcomes by providing earlier access to supportive therapies and treatment, delaying or preventing disease complications and physical disabilities, and reducing or eliminating costly and unnecessary services or procedures.

What Can You Do?

Make your voice heard: Engage, share your story, and get involved in advocacy.

These findings demand attention from researchers, policy makers, healthcare providers, and employers. There is an urgent need to fund research, enhance awareness, and improve access to diagnosis, care, and treatment of rare disease. Contact your elected representatives, share the study findings, and urge Congress and state governments to enhance newborn screening and other policies that facilitate patient access to diagnosis and treatment.


The Science Snapshot this week contains content modified from materials distributed by The EveryLife Foundation for Rare Diseases.

The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study

EveryLife Foundation for Rare Diseases

In Partnership With:

The Lewin Group, part of Optum Serve Expert Stakeholders The Rare Disease Community

September 14, 2023

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