National Burden of Rare Disease Studyf



The EveryLife Foundation has been leading a National Burden of Rare Disease Study with the goal of yielding a powerful tool for patients and organizations to use to advocate for the development of policy, therapies, and diagnostics aimed at reducing the burdens that rare diseases place on patients and their families. We are writing to seek your partnership in the next critical phase of this study – the patient community survey of indirect and non-medical costs.

About the Burden of Rare Disease study:

Within the rare disease community, it is common knowledge that the cost of living with a rare disease, both economically and socially, is immense. However, even though over 30 million Americans are affected by a rare disease, no one has previously examined the true cost on a large scale in the US. The aim of the Burden of Rare Disease study is to assess the cost of living with a rare disease – including costs that drive medical utilization – as well as those that are incurred by families and never reflected in medical bills. To do so, the study examines three different cost areas: direct (medical) costs, indirect (e.g. lost productivity) costs, and non-medical costs (e.g. home modifications, education accommodations, personal caregivers, etc).

The latter two domains are being assessed with a survey. The findings of this survey will be incorporated into our Burden of Disease Study, published and shared with our rare disease community and policy makers to reinforce the urgency in our policy priorities.

We are currently seeking the participation of all organizations and patient communities that would like to participate in this survey to ensure that our study is fully representative of our US rare disease community. 

In order to participate in the Burden of Rare Disease study, we are asking that your organization:

✽  Distribute an electronic survey link via email and/or social media to patients and caregivers who are members of your organization when the survey is available in March/April (identifiable information about survey respondents will not be collected from survey participants)

✽  Encourage survey participation of your membership by providing members with information about the importance of the study

✽  Participating organizations will have an opportunity to review the draft survey before it is finalized

If interested, please respond to this email by 1/30/20.

We also request that participating organizations:

✽  Provide EveryLife with an estimate of the size of your organization’s membership (this will help us power the study statistically)

✽  Consider sharing any surveys/data elements that have been utilized by your organization previously for similar purposes that you think may help inform the development of survey questions by our health economists

Survey details:

The final survey will be approximately 35-40 questions and take each respondent about 40 minutes to complete. Most of the questions will be multiple choice. Survey responses will be anonymous. We will ask that one survey be completed per household. If the rare disease community member is under age 18; the survey should be completed by either the patient, parent, or caregiver most familiar with the patient’s care needs and the family finances. For adults, the individual him/herself or a family member most familiar with the care needs and family finance should respond.  Again, survey link distribution will be done through organizations and partners who elect to support the survey dissemination; the EveryLife Foundation will not be disseminating the survey or collecting any information about participants. Only aggregated results (weighted to reflect the larger underlying population) will be release via a journal manuscript.

Please email us by 1/30/2020 to indicate your interest in supporting this effort and to ensure that your patient community’s experience is reflected in this study.

The National Burden of Rare Disease Study will be a powerful tool for our shared communities to ensure that our experience is accurately reflected in current policy discussions and to increase public awareness of the serious public health crisis of rare disease.

Your participation and distribution of the survey will enhance the strength of a tool that can be used to improve the lives of patients and their families for decades to come.

If you have any questions about the survey and/or its distribution, please respond to this email or contact Annie Kennedy at

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