Rare Disease Report

Chapter 4: Patient Education

The Internet and Medical Information
The internet has transformed the rare disease community by empowering patients with information and giving clinicians the tools necessary to make informed decisions. However, there is also a glut of information that seems helpful, and is easy to get, but is not backed by scientific investigation. Clinicians and patients wanting to learning more about a rare condition should limit themselves to established entities such as the National Organization for Rare Disorders, Orphanet, Global Genes, RareConnect, the National Institutes of Health (NIH), and the US Food and Drug Administration.
Recommended Websites for Patients
Genetic Alliance: geneticalliance.org/
Genetic Alliance is a general nonprofit health advocacy organization that includes over 1200 disease-specific advocacy organizations and thousands of universities, private companies, government agencies, and public policy organizations. Many programs and informational material are available to educate patients, researchers, and doctors about specific diseases.

Global Genes: globalgenes.org
Global Genes is a new nonprofit organization that focuses on patient advocacy. It has fast become one of the world’s largest rare disease organizations.

National Organization for Rare Disorders (NORD): rarediseases.org
NORD is 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).

NIH/NCATS GRDR Program: grdr.ncats.nih.gov/
The Global Rare Diseases Patient Registry and Data Repository (GRDR) is a program run by NIH and the National Center for Advancing Translational Sciences (NCATS) that collaborates with rare disease patient registries to aggregate de-identified patient clinical data in a standardized manner so it can be made available free-of-charge to investigators.

RareConnect: rareconnect.org
RareConnect is a partnership between NORD, Rare Diseases Europe, and other international organizations to connect patients with rare diseases from around the world.
Rare Diseases Europe (EURORDIS); eurordis.org
EURORDIS is a European-based nonprofit organization focused on helping patients with rare diseases. Much like NORD, it provides information so patients can learn more about their disease, as well as specialized social services and links to online communities.

Websites to Avoid
Patients should avoid websites and organizations that:
  • Promote an unapproved treatment
  • Do not cite medical or scientific information
  • Do not have an advisory board
  • Do not specify funding sources
  • Do not have contact information
  • Require personal information before allowing site access
  • Promise to provide patients with all they need with no detailed documentation (e.g, no links to peer reviewed journal articles, white papers, etc)

Caring for the Caregiver
Being the caregiver for a patient with a rare disease can be very challenging. For some diseases, it may mean being a silent advocate who allows a loved one to live a relatively normal life while monitoring their daily activities and springing into action during emergencies. For others, it is a 24/7 job involving constant care while also monitoring bills, appointments, insurance claims, diet, and other needs.

No matter the severity level of the rare condition that the patient has, caregivers can become easily overwhelmed.1 For less severe conditions, they may take on extra care responsibilities while trying to function in their normal work/life routines. For more severe conditions, the caregiving activities can completely take over the caregiver’s life.

In both cases, the stress and anxiety can be overwhelming. Because a caregiver is often a family member and the primary liaison between the patient and medical staff and insurance personnel, it is important that caregivers take care of themselves to avoid missteps and burnout during the caring process.

Some tips to help caregivers include:
  • Getting proper rest and having healthy eating habits
  • Seeking and accepting help from others
  • Embracing the small victories

  1. Rare Disease Impact Report: Insights from patients and the medical community. Shire and Global Genes. April 2013. Available at: globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf Accessed September 22, 2017

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