Rare Disease Report

Patient Education

The Internet and Medical Information

The Internet is full of helpful information about rare diseases. However, it is also full of information that sounds reasonable but is not backed by any scientific or clinical data. Because the decision on what to believe can be a difficult one, a good general rule of thumb to follow is that when beginning a search for a rare disease or a rare disease community, limit yourself to established entities such as the National Organization for Rare Disorders (NORD), the National Institutes of Health (NIH), and the FDA to obtain reliable information and sources. Organizations, such as NORD also list patient advocacy groups that have been thoroughly vetted (see Appendix B).

Recommended Websites for Patients

Genetic Alliance (www.geneticalliance.org): a nonprofit health advocacy that includes over 1200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations.

Global Genes Project (www.globalgenes.org): a nonprofit focused on patient advocacy. One of the largest organizations of its kind, Global Genes offers valuable toolkits to help patients and advocates with a variety of topics.

National Organization for Rare Disorders (www.rarediseases.org): a nonprofit devoted to helping patients with rare diseases get the care and recognition they deserve. The website provides information on rare diseases, as well as a list of properly vetted patient advocacy groups (see Appendix B).

NIH’s Global Rare Diseases Patient Registry and Data Repository Program (https://grdr.ncats.nih.gov/): the Global Rare Diseases Patient Registry and Data Repository (GRDR) Program, run by the National Center for Advancing Translational Sciences, part of the NIH, collaborates with rare disease patient registries to aggregate de-identified patient clinical data in a standardized manner to be made available free of charge to investigators. The GRDR program develops and provides information and tools to support the rare disease community and patient advocacy groups, such as common data elements, and an informed consent template for participating in rare disease patient registries. In addition, the GRDR program website provides free access to useful information and links for patients and their families.

RareConnect (www.rareconnect.org): a partnership between NORD and the European Organisation for Rare Diseases (EURORDIS) to connect rare disease patients globally. At press time, the site hosted more than 80 rare disease communities.

European Organisation for Rare Diseases (www.eurordis.org): a European-based nonprofit, EURORDIS focuses on helping patients with rare diseases. Much like NORD, it provides information for patients to learn more about their disease, as well as about specialized social services and links to online communities.

Many excellent patient advocacy groups are not included in the above list; please visit Appendix B for a more complete list of properly reviewed patient advocacy groups.

Organizations/Websites to Avoid

The Internet is full of information that may not be scientifically accurate.

When searching for information, websites and organizations to avoid include those that:

  • Promote an unapproved treatment
  • Do not provide citations for its medical/scientific information
  • Do not have an advisory board
  • Do not specify its funding sources
  • Do not have contact information
  • Do not have a website URL
  • Require you to provide your information before allowing you to access the site
  • Promise to provide you with all that you need with no detailed documentation
  • Require you to use tools that have copyrights and proprietary


Managing rare diseases is expensive. A recent survey by Shire Pharmaceuticals and Global Genes (www.rarediseaseimpact.com) noted that more than half of patients incur direct medical expenses not covered by insurance. Many rare diseases are chronic, often requiring a team of specialists, medical equipment, devices, and physical therapy that may not be covered by insurance. In addition, caring for a person with a rare disease can limit a caregiver’s ability to get or maintain a paying job. Finally, if a patient has a condition defined as a rare disease, care is likely very expensive, even if insurance pays for most of the treatment. Fortunately, patients can learn to get the most out of their insurance coverage and find ways to help them raise funds to pay for medical expenses not covered by insurance.

Insurance Issues

Although it is beyond the scope of this guide to provide specific assistance in dealing with the multitude of insurance coverage scenarios for the global 7000 rare diseases, here are some helpful tips for getting the most benefit out of insurance coverage. Keep records of the following:

  • All medical bills, including lab work, admissions, diagnostic tests, clinic visits, and treatments
  • Insurance claims
  • Reimbursements
  • Details of any contact with insurance agents (name, date, outcome of conversation)
  • Medical costs not covered or reimbursed
  • Prescriptions provided and filled
  • Travel expenses (meals, lodging, gas, mileage) to distant specialty clinics

What Can Patients Do When a Claim Is Denied or Coverage Refused?

  • Ask the physician to write a letter explaining why a procedure, treatment, or test was necessary, and then resubmit the claim.
  • Request a review after a third resubmission.
  • Ask to speak to a supervisor or other person in a position to reverse a decision.
  • Seek assistance from patient advocacy groups (nonprofit), patient advocacy groups developed for a specific drug, and pharmaceutical company assistance programs (for orphan drugs).

Pharmaceutical Company Assistance Programs

Many pharmaceutical companies that manufacture orphan drugs have patient support programs—often including highly trained case managers— to help patients with specific rare diseases deal with the multitude of challenging economic and regulatory issues they may encounter.

Patient Advocacy Groups

Many patient advocacy groups for specific rare diseases have websites available to assist those needing guidance with insurance and other issues unique to the condition. A list of well-established and reputable patient advocacy groups can be found in Appendix B.

Affordable Care Act

Those in the rare diseases community tend to appreciate the Affordable Care Act (ACA) for several reasons. First, the ACA eliminates an upper spending limit on expenses, which is very important when the treatments for some rare diseases can easily reach $300,000 to $400,000 a year for the orphan drugs alone. Second, the ACA requires insurance companies to cover routine costs associated with approved clinical trials. Third, the law makes it illegal to deny health insurance coverage to any individual because of a pre-existing condition.

Raising Money for Financial Support

When a family member, especially a child, is diagnosed with a rare lifealtering disease, one parent typically will be unable to work full-time or at all, and income goes down. As the numerous uninsured costs that are connected to dealing with a rare disease mount, expenses go up, and families may need to seek financial support.

Fundraising Activities

Families can raise funds for medical expenses in various ways. Before creating a fundraiser, however, seek help from organizations or institutions to see whether they can provide assistance. Fundraising requires a great deal of work, and families feeling the pressure to raise funds do not have to “reinvent the wheel.” See if local affiliates of organizations that may be associated with the specific condition in question, or local businesses, can help. Other potential sources of aid (for ideas or funds) are local hospitals, charities, organizations, and religious institutions—they may well be able to provide helpful tips for creating a fundraiser (knowing what may have the best chance of success in a particular locality) and organizing it.

Useful Websites for Financial Assistance Programs

NORD’s patient assistance programs (PAPs) (https:// rarediseases.org/for-patients-and-families/help-accessmedications/ patient-assistance-programs/): NORD administers PAPs to help patients obtain lifesaving or lifesustaining medication they otherwise could not afford. Financial assistance with insurance premiums, copays, diagnostic testing expenses, and consultation with disease specialists not covered by a patient’s insurance plan are offered. NORD also works in partnership with pharmaceutical companies and patient organizations to provide travel and lodging assistance for participants in specific rare disease clinical trials.

NeedyMeds (www.needymeds.org): a 501(c)(3) nonprofit with the mission of helping people who cannot afford medication or healthcare costs. PAPs provide free or low-cost prescription medications to low-income individuals who are uninsured or underinsured and meet the necessary guidelines.

RxAssist (www.rxassist.org): a Web-based PAP that works with drug companies to provide free or low-cost drugs to uninsured patients. Each company’s program has its own set of rules, but usually the patient must (1) be a US citizen or legal resident, (2) have no prescription insurance coverage, and (3) have an income that is no more than 200% of the federal poverty level.

The HealthWell Foundation (www.healthwellfoundation.org): a 501(c)(3) nonprofit that assists patients with insurance who cannot afford their copays, coinsurance, and/or premiums for important
medical treatments.

Patient Advocate Foundation Co-Pay Relief Program (www.copays.org): a 501(c)(3) nonprofit that can provide direct financial support to insured patients in need of assistance. The list of diseases for which Copays provides assistance is limited. Covered rare diseases include multiple myeloma, myelodysplastic syndrome, and renal cell carcinoma.

The Patient Access Network Foundation (www.panfoundation.org): helps underinsured patients access healthcare by providing PAPs for numerous diseases, including rare diseases such as acromegaly, Gaucher disease, homozygous familial hypercholesterolemia, methicillin-resistant Staphylococcus aureus, retinal vein occlusion, short bowel syndrome, and uveitis.

Patient Services, Inc (www.patientservicesinc.org): a 501(c)(3) nonprofit that provides financial assistance for some rare diseases including Fabry disease, hereditary angioedema, mucopolysaccharidosis I, and Pompe disease.
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