The Systemic Impact of Rare Disease: Medical, Emotional, Financial, Social

Posted Tuesday April 09, 2013 by Melissa

US rare disease infographic

Rare diseases may seem like solely a health care issue, but in fact, a newly released report finds that their impact is much more systemic, affecting the health care system from a clinician, patient, and payor perspective, and also substantially affecting sufferers and their families emotionally, financially, and socially.

US rare disease infographic

US – Impact of Rare Disease. Image courtesy of

Today Shire HGT, in collaboration with the Global Genes Project, released the Rare Disease Impact Report. The report examines the impact of rare disease in all these areas and includes the perspectives of clinicians, patients, and payors as well.

To its credit, the report was a collaborative effort between a pharmaceutical company and a patient advocacy organization with an advisory board of respected individuals impacted by rare disease in some way: Nicole Boice, Founder and CEO, Global Genes | RARE Project; Dr. Priya S. Kishnani, Division Chief, Medical Genetics, Duke University Medical Center; Tomas Philipson, Daniel Levin Professor of Public Policy Studies, The University of Chicago; Alastair Kent, Director, Genetic Alliance UK; Dr. Christian J. Hendriksz, Clinical Lead, Adult Inherited Metabolic Disorders, Salford Royal NHS Foundation Trust; and Mike Drummond, Professor of Health Economics, University of York.

I will review some important findings from the report and also offer several thoughts from a patient/parent perspective. The entire report can be downloaded at

Most importantly, the report findings call for:

1. Greater collaboration among physicians and access to specialists with expertise in rare diseases. Patient and physician responses point to the need for increased awareness, more educational programs, and additional networking opportunities or platforms connecting general practitioners and patients with appropriate specialists. This may help to expedite the lengthy process to a correct diagnosis.

2. Additional resources for patients and caregivers to navigate the emotional impact of rare diseases, particularly for those where the treatment outlook is limited. There is a tremendous amount of emotional burden involved with fi nding credible information and qualifi ed specialists as patients and their caregivers fi ght and pay for care for an uncommon ailment. Resources or care coordinators that help to navigate this process or ease the emotional burden are warranted.

3. A need for more research to expand the current rare disease body of knowledge. Additional academic and clinical research will ultimately offer patients increased options, and provide physicians with more tools to diagnose patients, all while equipping payors with evidence-based guidelines upon which to base coverage decisions.


The report details the samples of US and UK patients/caregivers (representing 466 rare diseases, listed at the end of the report), physicians (many different specialties, all had less than 10% of their patients affected by rare diseases), payors (governmental and private in the US, National Health Service in the UK), and thought leaders (e.g., policymakers, researchers, advocates; 11 in the US, 5 in the UK).

Significant impact

I found it particularly telling that over half of patient/caregiver respondents had to provide information about their rare disease to their healthcare providers – 67% in the US and 62% in the UK. That has been our experience as well. It is the patients/parents who become experts in the disease, its treatments (if there are any), and current research.

UK Patient Infographic

UK – Rare disease impact. Image courtesy of

Unfortunately, many patients and their families also found it necessary to borrow money from friends and family to pay the expenses associated with rare disease (37% in the US and 21% in the UK).

The report also examined the emotional impact of rare disease, which is incredibly sobering. Respondents reported that their disease caused:

• Depression (75% in the US, 69% in the UK)
• Anxiety and stress (86% in the US, 82% in the UK)
• Isolation from friends/family (65% in the US, 57% in the UK)
• Less interaction with friends/family (70% in the US, 68% in the UK)
• Worry based on future outlook of disease (90% in the US, 91% in the UK)
• Worry based on lack of information available on disease (83% in the US, 81% in the UK)

Caregivers were similarly impacted:

• Depression (72% in the US, 65% in the UK)
• Anxiety and stress (89% in the US, 88% in the UK)
• Isolation from friends/family (64% in the US, 54% in the UK)
• Less interaction with friends/family (55% in the US, 45% in the UK)
• Worry based on future outlook of disease (97% in the US, 94% in the UK)
• Worry based on lack of information available on disease (87% in the US 84% in the UK)

And understandably, these conditions were even worse in those patients and caregivers for whom there was no treatment option available.

Physician Infographic

Physician impact of rare disease. Image courtesy of

Wearing many hats still leads to a lower quality of life

I appreciate that the report highlighted the many hats that patients and caregivers wear in the course of diagnosis and management of the disease, an aspect that often is unappreciated by those unaffected. The hats include researcher, care coordinator, and advocate.

With an average road to diagnosis of 7.6 years in the US and 5.6 years in the UK and the medical, emotional, and financial difficulties of management and treatment, it is not surprising that the quality of life indicators for those affected by rare disease resembles that of someone who has had a stroke (for a treatable rare disease, 44-50% lower quality of life than a healthy person) or even much lower than that for those who have an untreatable condition (58-60% lower than a healthy person).

Physicians and Payors

Physicians are also frustrated by the lack of time and resources to diagnose and manage rare disease patients. As well, payors face difficulty since there is often a lack of treatment standardization and cost estimation for these patients.

Overall, the report provides a detailed picture into the lives of those affected by rare disease, and while many of the findings are not surprising, it provides concrete data regarding these issues and a roadmap of the gaps in our health care and support systems.

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