Patient Education

The Internet and Medical Information

The Internet is full of helpful information about rare diseases. However, it is very easy to come across information that sounds reasonable but is not backed by any scientific or clinical data. It can be difficult to know what to believe, but a general rule of thumb is that when beginning a search for a rare disease or a rare disease community, it is probably best to limit oneself to established entities such as NORD, Orphanet, Global Genes, RareConnect, NIH, and the FDA. Many of those sites have links to research centers and patient advocacy groups that have been thoroughly vetted.

Recommended Websites for Patients

Genetic Alliance 

A general nonprofit health advocacy organization that includes over1200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. Many programs and informational materials are available to aid patients, researchers, and doctors on the subject of specific diseases.

Global Genes Project

A relatively new nonprofit organization focused on patient advocacy. However, it is also currently one of the largest organizations, and offers some very valuable toolkits to help patients and advocates with a variety of topics, from understanding genetic testing to information about how to start a nonprofit organization or how to lobby in Washington. For more information, visit

National Organization for Rare Disorders (NORD) 

A nonprofit organization 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).


The Global Rare Diseases Patient Registry and Data Repository (GRDR) is a program run by NIH/NCATS (National Center for Advancing Translational Sciences) that collaborates with the 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 (CDEs) and an informed consent template for participating in rare disease patient registries. In addition, the GRDR website provides free access to useful information and links for patients and their families.


A partnership between NORD and EURORDIS to connect rare disease patients globally. At press time, there were over 60 rare disease communities on the site.

European Organisation for Rare Diseases (EURORDIS) 

A European-based nonprofit organization focused on helping patients with rare diseases. Much like NORD, it provides information for patients to learn more about their disease, as well as specialized social services and links to online communities.

Websites to Avoid

It is strongly recommended that patients with a newly diagnosed rare disease and their caregivers begin their search for patient organizations through the above cited websites. There are, however, many excellent patient advocacy groups not included in the above lists. Quite often, the rarer the disease, the less likely the resources are to be available to meet the criteria necessary to be listed by the larger organizations. With that being said, those searching for information should avoid any organization that:


Managing rare diseases is expensive. A recent survey by Shire and Global Genes ( noted that over one-half of patients incur direct medical expenses not covered by insurance. As discussed earlier, many rare diseases are chronic conditions that may require a team of specialists and medical equipment, devices, and physical therapy, which may not be covered by insurance. Adding to the problem, caring for a person with a rare disease can limit a caregiver’s ability to maintain or get a paying job. And finally, if the patient has a condition defined as a rare disease, there is a good chance that care is very expensive, even if insurance pays for most of the treatment.

Fortunately, there are several ways to help patients get the most out of their insurance coverage, and ways to help them raise funds to pay for medical expenses not covered by insurance.

Insurance Issues

It is beyond the scope of this guide to provide specific ssistance in dealing with the multitude of insurance coverage scenarios for the 7000 rare diseases. However, there are some helpful tips that patients will find useful to get the most benefit out of their insurance coverage.

These include keeping records of the following:

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

Pharmaceutical Company Assistance Programs

Many pharmaceutical companies with orphan drugs have patient support programs to help those with specific rare diseases deal with the multitude of economic and regulatory issues they may encounter. Patients taking a specific orphan drug are encouraged to go to the manufacturer’s website to see whether a patient assistance program is available. In many cases, assistance is available from highly trained case managers who are familiar with the unique set of challenges faced by patients with specific rare conditions.

Patient Advocacy Groups

Many patient advocacy groups for specific rare diseases have websites available to assist patients 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

Whatever one’s opinion of the Affordable Care Act (ie, ACA, Obamacare), those in the rare diseases community tend to appreciate its passing in 2010 for several reasons. First, it makes it illegal to have an upper spending limit on expenses. This is very important for some rare diseases where treatment can easily reach $300,000-$400,000 a year for the orphan drugs alone. Second, the ACA requires insurance companies to cover routine costs associated with approved clinical trials. And third, the law makes it illegal to deny any persons health insurance coverage due to a pre-existing condition.

Raising Money for Financial Support

If a family member (often a child) is diagnosed with a rare life-altering disease, it is very common that one parent will be unable to work full time, or even work at all. This loss of income along with the numerous uninsured expenses that will develop in dealing with a rare disease means that while expenses go up, income goes down. Because of this, families may need to seek additional financial support.

Fundraising Activities

Numerous methods are available to help families raise funds for medical expenses. Before creating a fundraiser, it is often best to look for help from organizations/institutions to see whether they can provide assistance. Fundraising requires a great deal of work, and families feeling the pressure to raise funds may want do it as efficiently as possible the first time. It is usually best to contact local affiliates, businesses, and organizations that may be associated with the specific condition for which funds are needed. If more fundraising is still necessary, local hospitals, charities, organizations,
religious institutions, and other groups may be able to provide helpful tips to organize the fundraiser, and determine what will work in a particular area.

Fundraisers are a great way to not only raise funds, but also to bring a community together and educate them about a rare condition. When planning a fundraiser, it is important to contact the local government to obtain the necessary permits needed to conduct the activity. In addition, advocates should consult legal experts to ensure that the activity planned is permitted. ( In addition, it is important to state clearly in instructions to participants how the money will be raised, what the money will be used for, and whether the deductions are tax-deductible. Organizations that are not 501 (c)(3) not-for-profit organizations may have difficulty raising funds.

Some fundraising ideas include:


In addition to physical fundraising options, many families look to the Internet to raise funds for medical expenses. “Crowdfunding,” or getting people to donate directly to a fundraising project, is growing in popularity and can be an efficient means to raise funds. However, just like with physical fundraising options, crowdfunding requires a great deal of effort, in this case, to create a Web
presence that can lead to success.

Sites such as GiveForward (, YouCaring (, and Fundly ( are commonly used by families seeking funds for medical expenses.

Useful Websites for Financial Assistance Programs

NORD’s Patient Assistance Programs

NORD administers Patient Assistance Programs (PAPs) to help patients obtain lifesaving or life-sustaining medication that they otherwise could not afford. NORD offers financial assistance with insurance premiums, patient co-pay fees, diagnostic testing expenses, and consultation with disease specialists not covered by a patient’s insurance plan. 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.


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


A Web-based PAP that works with drug companies to provide free or low-cost drugs to uninsured patients. Each program will have 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 200% of the federal poverty level.

The HealthWell Foundation 

A 501(c)(3) nonprofit organization that assists patients with insurance who cannot afford their copayments, coinsurance, and premiums for important medical treatments.

Hill-Burton Free and Reduced-Cost Health Care

A government program dating back to 1946, for which Congress passed a law giving funds to hospitals and other healthcare facilities, in return, they provided services for persons unable to afford payment. The program officially ceased in 1997, but170 facilities remain that are obligated to provide free or reduced-cost care. Patients are encouraged to visit the website to see whether their healthcare facility is on the list.

Patient Advocate Foundation (PAF) Co-Pay Relief Program 

A 501(c)(3) nonprofit organization that can provide direct financial support to insured patients in need of assistance. The list of diseases for which they provide assistance is limited. Rare diseases covered include multiple myeloma, myelodysplastic syndrome, and renal cell carcinoma.

The Patient Access Network Foundation (PAN)

Helps underinsured persons access healthcare by providing assistance programs for numerous diseases, including several rare diseases (eg, acromegaly, Gaucher disease, homozygous familial hypercholesterolemia, MRSA, retinal vein occlusion, short bowel syndrome, and uveitis).

Patient Services, Inc (PSI)

A 501(c)(3) nonprofit organization that provides financial assistance for some rare diseases including Fabry disease, hereditary angioedema, mucopolysaccharidosis I, and Pompe disease.
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