IDefine Blog
IDefine News  - October 29, 2023
Matt Lockwood - AUTHOR

The High Cost of Delayed Diagnosis in Rare Diseases: A Call to Action

As many KS caregivers can attest, navigating through the world of rare diseases can be like navigating a labyrinth; however, timely diagnosis and screening can make this journey less daunting. A recent study by the EveryLife Foundation for Rare Diseases emphasizes the importance of early diagnosis in terms of both health and cost benefits.

Information and graphic courtesy of the EveryLife Foundation

The report, titled “The Cost of Delayed Diagnosis in Rare Disease,” examines the avoidable costs tied to seven rare conditions: Adrenoleukodystrophy (ALD), Duchenne muscular dystrophy (DMD), Fragile X syndrome (FXS), Generalized myasthenia gravis (gMG), Pompe disease, Severe combined immunodeficiency disorder (SCID), and Wilson disease. The startling find was that delayed diagnosis can lead to additional costs ranging from $86,000 to a staggering $517,000 per patient.

Early interventions, particularly for diseases like ALD, Pompe disease, and SCID, have proven critical. For these diseases, a timely diagnosis can virtually eliminate the diagnostic odyssey, saving families from the emotional and financial roller coaster while also ensuring the best health outcomes possible.

Annie Kennedy from the EveryLife Foundation highlights the need for “faster and improved diagnostic strategies.” Especially when there are treatments available that can halt or even reverse the disease’s progression. Using innovative tools such as newborn screening and evidence-based neonatal sequencing can be pivotal in ensuring timely interventions.

To give a perspective, EveryLife Foundation’s 2022 “National Economic Burden of Rare Disease Study” calculated a whopping economic impact of almost $1 trillion from 379 rare diseases in 2019. Heartbreakingly, 60% of these costs fell on the shoulders of families and society.


Furthermore, the journey to a definitive rare disease diagnosis can be agonizingly long. On average, the diagnostic odyssey lasts more than six years and involves 17 clinical encounters. This prolonged uncertainty not only impacts mental well-being but also forces families into a financial maelstrom, seeing multiple specialists and undergoing numerous tests.

Information and graphic courtesy of the EveryLife Foundation

“Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds,” said Amy Brower, PhD, from the American College of Medical Genetics and Genomics and co-author on the study. “These could be better used for treatments that enhance patient quality of life and boost workforce productivity,”

However, this study, which delved deep into the nuances of the diagnostic journey, underscores a chilling reality. The costs calculated for these seven diseases are likely only the tip of the iceberg. “For the vast majority of rare conditions, the search for answers continues,” says Annie Kennedy. The emotional and financial cost for many remains incalculable.

A notable example is patients with FXS. While medical costs were similar regardless of diagnosis timing, caregiver days off work nearly doubled in the delayed diagnosis group. This adds another layer of strain to already beleaguered families.

This groundbreaking study is a clarion call to the medical community and policymakers. The need of the hour is robust investment in diagnostic resources. Early diagnosis not only alleviates suffering but is also an economically wise choice.

For a more detailed look at the study and its methodology, please visit the EveryLife Foundation’s website: Kleefstra Syndrome patients and their caregivers are invited to join the Foundation’s advocacy efforts to improve policy at the federal and state levels.