Written by Kaily Ball

Kaily Ball is a writer, researcher and patient advocate. She gives her insights into the healthcare challenges people with rare conditions face in the US and outlines some of the global models she feels could be implemented to improve diagnosis and care

The United States is home to some of the world’s most brilliant researchers and some of the most advanced medical technologies ever created.^1,2 Yet for patients navigating complex, rare or poorly understood conditions, the experience often feels primitive.^3,4 Diagnoses come late or not at all, and treatments are delayed.^5,6,7 All the while, families drain their savings and watch their health deteriorate.^8,9

Here’s the paradox: Americans spend more on healthcare than anyone else in the world—an average of $13,432 per person in 2023, nearly double the $7,393 per person that other wealthy countries spend.¹⁰ Healthcare eats up 17.6% of US GDP, compared to about 11% elsewhere.^11,12 Yet despite the highest price tag, we consistently rank near the bottom for access, equity and outcomes.¹³

It’s not that better care isn’t possible. Other nations have shown what happens when systems modernise: patients are diagnosed earlier, treated faster and supported more fully, often at a fraction of what we pay.^{14,15,16,17,18}

Thoracic outlet syndrome: a tale of two standards

When I was working through my own thoracic outlet syndrome diagnosis, I stumbled across something that perfectly illustrates the problem. The US and Europe don’t even define the condition the same way.

Here in the US, to be diagnosed with arterial thoracic outlet syndrome (aTOS), you need proof of damage—a clot, an intimal injury or an aneurysm that shows up on imaging. Without that, even if your arteries are clearly being compressed, your condition is classified as neurogenic TOS (nTOS) instead. That label limits treatment options and delays the interventions that could prevent lasting damage.^19,20

In Europe, compression plus symptoms is enough to call it what it is: aTOS. Their clinicians treat based on what’s actually happening physiologically, not just what’s visible on an image. That difference means earlier recognition, earlier intervention and fewer patients forced to deteriorate before they’re “sick enough” to qualify for help.²¹

That delay isn’t just cruel. It’s expensive. Delayed diagnoses lead to longer clinical journeys, redundant testing and more severe complications. All of which drive up costs that, in the US, are already the highest in the world.⁶

The rare disease diagnostic odyssey: time and dollars lost

If you’ve ever navigated the world of rare or complex disease, you know the term: the diagnostic odyssey. It’s the years of unanswered questions, endless referrals and mounting bills, all while your health declines. And the data shows just how devastating that odyssey really is for almost every rare condition.

Globally, rare disease patients wait an average of four to five years for a diagnosis. In the US and the UK, that journey often stretches five to seven years, including seeing eight or more physicians and receiving two to three misdiagnoses. In Europe, patients referred to centres of expertise usually get answers a full year sooner. That year isn’t just time saved; it’s fewer unnecessary procedures, fewer wrong medications and fewer nights spent wondering if you’ll ever be believed.^5,6

Germany’s numbers make the financial reality stark. Patients suspected of having rare diseases incurred 7.6 times higher healthcare costs during their diagnostic period compared to their peers: €26,999 versus €3,561. Converted to US dollars, roughly $29,000 per patient…just for the “search” phase.⁷

At home in the US, the collective burden is crushing. Rare diseases cost the US economy nearly $1 trillion in 2019 alone. Early diagnosis could save hundreds of thousands of dollars per patient by avoiding complications, unnecessary hospital stays and prolonged testing. Beyond the dollars, those years cost families irreplaceable time—time they could have spent healing, working and living.²²

Ankylosing spondylitis: the price of delay

Ankylosing spondylitis, an inflammatory condition that can fuse the spine if untreated, is another example of how delay compounds damage and cost. In the US, diagnosis often takes up to 13 years. In Europe, the delay is shorter. Eight to eleven years in most countries, and as little as two years in France, where better-integrated screening and specialist pathways speed the process.

Every year of delay means more irreversible damage, more pain, more lost wages and higher long-term disability costs.^10,11,12

A high-cost, low-return system

This is the paradox of American healthcare: we spend more than anyone else and deliver less. Experts estimate that 25% to 30% of all US healthcare spending is waste. Massive sums of money lost to inefficiency, unnecessary procedures, redundant testing and avoidable complications. That waste comes at a human cost. Patients live sicker, die younger and trust their providers less. Families spend down their savings, rack up debt and too often are left feeling like the system is designed to break them.²⁶

Why the US lags behind

The reasons aren’t a mystery. Insurance-driven decision-making puts cost containment ahead of clinical judgment. Fragmented standards mean your diagnosis and treatment depend on your zip code and insurer. Fear of litigation keeps many clinicians tied to rigid criteria, even when evidence supports a better way. And when peer nations adopt evidence-based approaches—from rapid genomic sequencing for infants to integrated rare disease networks a—the US dithers, leaving patients to pay the price.

For rural, low-income or marginalised communities, those barriers are even higher. They wait the longest, travel the farthest and fight the hardest to get basic care.^27,28

What modernisation could look like

The solutions are not theoretical. They already exist, tested and proven, in systems across the globe. The first step is modernising diagnostic definitions and updating clinical guidelines in real time. In the UK, the National Institute for Health and Care Excellence (NICE) maintains “living” guidelines that evolve with the evidence, eliminating the decade-long lag that defines US updates.^29,30

Next, standardise imaging and diagnostic pathways so patients are not trapped in a diagnostic lottery. For TOS, that means dynamic imaging that captures compression under stress, properly timed contrast and full anatomical views—already standard protocols in Europe.

Build nationwide centres of excellence modelled on the European Reference Networks (ERNs). These virtual networks allow top specialists to review complex cases, advise local physicians and coordinate care so patients don’t waste years chasing referrals. They’ve shortened diagnostic delays, reduced costs and brought world-class expertise to rural clinics that used to have none.

Make early genomic testing accessible wherever it can change care. The UK’s Generation Study is sequencing 100,000 newborns for over 200 actionable conditions. Rapid genome sequencing in NICUs already provides a diagnosis for up to half of critically ill infants and changes care for a third of them. Scaling that in the US could save lives and money by ending years of inconclusive testing.¹⁶

Invest in national registries for rare and complex diseases. England’s National Disease Registration Service (NDRS) continuously tracks and publishes data that inform policy, highlight gaps and guide research funding. Paired with tele-mentoring programs like Project ECHO, which connects local providers to expert hubs, that approach would bring expertise to patients instead of forcing patients to fight to reach expertise.³¹

Administrative waste needs to go. States like Texas have shown that “gold card” programmes, exempting physicians with high approval, success and compliance rates from repetitive prior authorisations, free up specialists to act sooner and focus on patients instead of paperwork.¹⁹

And finally, measure what really matters. Other countries build patient-reported outcomes into quality metrics, tracking pain, mobility and quality of life alongside lab values and imaging. In the US, those measures are treated as optional. When you start measuring what matters most to patients, the system shifts to prioritise it.^33,34,35

Why these changes matter

Modernising our system wouldn’t just feel better—it would save money and lives. Rapid genomic testing has already proven cost-effective in multiple countries. Coordinated care networks reduce duplicate testing, unnecessary procedures and preventable complications. Telehealth models close equity gaps by bringing high-level expertise to underserved communities.^36,37

Every piece of this approach—modern diagnostics, integrated care, patient-centred metrics—exists somewhere in the world today. The question is whether we will choose to learn from those successes or continue pouring money into a system that too often fails the people who need it most.

No patient should have to get sicker to get help

This is what it comes down to. Diagnosis and care should reflect what the patient is experiencing, not what an outdated standard says “counts”. No one should have to fail hard enough to be taken seriously.

The US doesn’t need to reinvent the wheel. We must catch up to the evidence and the global models already showing us what works. Doing so would save billions of dollars, reduce suffering and rebuild trust in a system that has lost it.

Most of all, it would send a message that patients in this country deserve more than high bills and low hope. They deserve a system that sees them, hears them and acts before it’s too late.

No one should have to get sicker just to be believed.

About Kaily

Kaily Ball is a writer, researcher and patient advocate with Ehlers Danlos, exploring the intersections of chronic illness, systems reform and nature-inspired healing. Through Tuned to the Wild, she blends data, storytelling and lived experience to inspire change and collective resilience.

References

1. Centers for Medicare & Medicaid Services. National health expenditures 2023 highlights. Available from: https://www.cms.gov/research-statistics-data-and-systems/statistics-trends-and-reports/nationalhealthexpenddata
2. Organisation for Economic Co-operation and Development (OECD). Understanding differences in health expenditure between the United States and OECD countries. Available from: https://www.oecd.org/publications/understanding-differences-in-health-expenditure-between-the-united-states-and-oecd-countries
3. Commonwealth Fund. Mirror, mirror 2024: a portrait of the failing U.S. health system—comparing performance in 10 nations. 2024. Available from: https://www.commonwealthfund.org/publications/issue-briefs/2024/mirror-mirror-2024
4. Peter G. Peterson Foundation. How does the U.S. healthcare system compare to other countries? Available from: https://www.pgpf.org/article/how-does-the-us-healthcare-system-compare-to-other-countries
5. EURORDIS. The voice of 12,000 patients. 2009. Available from: https://download2.eurordis.org.s3.amazonaws.com/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf
6. Faye F, N’Dri E, El Hangouche AJ, et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease. Orphanet J Rare Dis. 2024;19:286. doi:10.1186/s13023-024-02886-6
7. Glaubitz M, Happle C, Aksu F, et al. The cost of the diagnostic odyssey of patients with suspected rare diseases. Orphanet J Rare Dis. 2025;20:235. doi:10.1186/s13023-025-02235-1
8. EveryLife Foundation for Rare Diseases. The national economic burden of rare disease in the United States in 2019. Available from: https://everylifefoundation.org/burden-landing/
9. Shrank WH, Rogstad TL, Parekh N. Waste in the U.S. health care system: estimated costs and potential for savings. JAMA. 2019;322(15):1501–1509. doi:10.1001/jama.2019.13978
10. Peterson-KFF Health System Tracker. How does health spending in the U.S. compare to other countries? 2023. Available from: https://www.healthsystemtracker.org/chart-collection/health-spending-u-s-compare-countries
11. Moses H 3rd. Beyond national health expenditure data: three things we wish were better measured. Health Aff Forefront. 2025. Available from: https://www.healthaffairs.org/content/forefront/beyond-national-health-expenditure-data-three-things-wish-were-better-measured
12. Tikkanen R, Abrams MK. U.S. health care from a global perspective, 2022: accelerating spending, worsening outcomes. Commonwealth Fund. 2022. Available from: https://www.commonwealthfund.org/publications/issue-briefs/2023/jan/us-health-care-global-perspective-2022
13. Organisation for Economic Co-operation and Development (OECD). Understanding differences in health expenditure between the United States and OECD countries. 2022. Available from: https://www.oecd.org/publications/understanding-differences-in-health-expenditure-between-the-united-states-and-oecd-countries
14. Commonwealth Fund. Mirror, mirror 2024: a portrait of the failing U.S. health system. 2024. Available from: https://www.commonwealthfund.org/publications/issue-briefs/2024/mirror-mirror-2024
15. European Commission. European reference networks (ERNs) overview. Available from: https://health.ec.europa.eu/rare-diseases/european-reference-networks/overview_en
16. NHS Digital. National Congenital Anomaly and Rare Disease Registration Service (NCARDRS). Available from: https://digital.nhs.uk/services/national-congenital-anomaly-and-rare-disease-registration-service-ncardrs
17. Genomics England. Newborn Genomes Programme: the Generation Study. Available from: https://www.genomicsengland.co.uk/initiatives/newborns
18. Rodriguez KM, Smith S, Patel S, et al. Rapid whole-genome sequencing and clinical outcomes in the NICU. Pediatr Crit Care Med. 2024;25(9):e398–e405. doi:10.1097/PCC.0000000000004749
19. Illig KA, Donahue D, Duncan A, Freischlag JA, Thompson RW, Jordan SE, et al. Reporting standards of the Society for Vascular Surgery for thoracic outlet syndrome. J Vasc Surg. 2016;64(3):e23–e35. doi:10.1016/j.jvs.2016.04.039
20. American College of Radiology. ACR Appropriateness Criteria®: thoracic outlet syndrome. 2022. Available from: https://acsearch.acr.org/docs/3083061/Narrative
21. Rizzo M, Rizzo S, Talei Franzesi C, et al. Diagnostic and therapeutic approach to thoracic outlet syndrome. Tomography. 2024;10(9):1365–1378. doi:10.3390/tomography10090103
22. Yang G, Cintina I, Pariser A, Oehrlein E, Sullivan J, Kennedy A. The national economic burden of rare disease in the United States in 2019. Orphanet J Rare Dis. 2022;17:163. doi:10.1186/s13023-022-02299-5
23. Lapane KL, Dube CE, De Leon CFM, et al. Primary care physician perspectives on barriers to timely diagnosis of axial spondyloarthritis. BMC Prim Care. 2020;21:274. doi:10.1186/s12875-020-01274-y
24. Dube CE, Lapane KL, Ross ME, et al. Personal experiences with diagnostic delay among axial spondyloarthritis patients. Rheumatol Ther. 2021;8(2):789–802. doi:10.1007/s40744-021-00334-y
25. Masson Behar V, Dougados M, Etcheto A, Kreis S, Fabre S, Hudry C, et al. Diagnostic delay in axial spondyloarthritis: a cross-sectional study of 432 patients. Joint Bone Spine. 2017;84(4):467–471. doi:10.1016/j.jbspin.2016.06.005
26. Berwick DM, Hackbarth AD. Eliminating waste in U.S. health care. JAMA. 2012;307(14):1513–1516. doi:10.1001/jama.2012.362
27. Commonwealth Fund. High U.S. health care spending: where is it all going? 2023. Available from: https://www.commonwealthfund.org/publications/issue-briefs/2023/oct/high-us-health-care-spending-where-is-it-all-going
28. Centers for Disease Control and Prevention. Rural health disparities. Available from: https://www.cdc.gov/ruralhealth/index.html
29. National Institute for Health and Care Excellence (NICE). Developing NICE guidelines: the manual—appendix M: interim principles for supporting digital living guideline recommendations. Available from: https://www.nice.org.uk/process/pmg20/chapter/appendix-m-interim-principles-for-supporting-digital-living-guideline-recommendations
30. National Institute for Health and Care Excellence (NICE). Living guideline case studies. Available from: https://www.nice.org.uk/about/what-we-do/our-programmes/nice-guidance/living-guidelines
31. Osei-Twum JA, Wiles B, Killackey T, Mahood Q, Lalloo C, Stinson JN. Impact of Project ECHO on patient and community health outcomes: a scoping review. Acad Med. 2022;97(9):1393–1402. doi:10.1097/ACM.0000000000004749
32. Texas Legislature. House Bill 3459, 87th Legislature, Regular Session. Preauthorization exemptions (“gold card”). 2021. Available from: https://capitol.texas.gov/tlodocs/87R/billtext/html/HB03459F.htm
33. Terwee CB, Zuidgeest M, Vonkeman HE, et al. Common patient-reported outcomes across ICHOM standard sets: the potential contribution of PROMIS®. BMC Med Inform Decis Mak. 2021;21:259. doi:10.1186/s12911-021-01624-5
34. National Institutes of Health. Patient-Reported Outcomes Measurement Information System (PROMIS). Available from: https://commonfund.nih.gov/promis
35. Beaton DE, Wright JG, Katz JN, Amadio P, Bombardier C, Cole D, et al. Development of the QuickDASH: comparison of three item-reduction approaches. J Bone Joint Surg Am. 2005;87(5):1038–1046. doi:10.2106/JBJS.D.02060
36. Arora S, Thornton K, Murata G, Deming P, Kalishman S, Dion D, et al. Outcomes of treatment for hepatitis C virus infection by primary care providers. N Engl J Med. 2011;364(23):2199–2207. doi:10.1056/NEJMoa1009370
37. Centers for Disease Control and Prevention. Telehealth in rural communities. 2023. Available from: https://www.cdc.gov/ruralhealth/telehealth