Thanks to a fortunate confluence of focused advocacy, advances in research, and breakthroughs in gene therapy, a much more hopeful era of treatment for rare and complex diseases is in sight. For physicians who care for the 25 to 30 million Americans1 diagnosed with a rare disease, this is welcome news, signaling a long-awaited shift from limited options to life-changing therapies. Below we present six strategies for primary care practitioners seeking to offer much-needed support and a guiding hand to their rare disease patients.
1. Learn more about your patients’ rare diseases by accessing well-vetted resources from respected, highly-credible organizations.
NORD, the National Organization for Rare Disorders, offers physicians in-depth guides to several rare conditions, including Gaucher disease, hereditary angioedema (HAE) homozygous familial hypercholesterolemia (HoFH), and Pompe disease. NORD helps facilitate the timely diagnosis and treatment of their patients.
GARD, the Genetic and Rare Diseases Information Center at the National Institutes of Health website, contains data on more than 6,500 rare and/or genetic diseases, including a general summary of the condition (e.g., symptoms, cause, inheritance pattern, diagnosis, and treatment), patient advocacy organizations, and links for additional information. GARD Information Specialists, who have advanced degrees in genetics and experience working with people who have rare conditions, are also available to provide physicians with current research studies and clinical trials, genetic testing resources, and custom literature reviews.
Orphanet is a global, online reference portal established to help improve the diagnosis, care, and treatment of patients with rare diseases. The site also includes expert-authored and reviewed Emergency Guidelines to help guide healthcare professionals when treating RD patients in emergencies.
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, Centers for Disease Control (CDC), and National Institutes of Health (NIH) resources. The Public Health Genomics and Precision Health Knowledge Base (PHGKB) addresses the translation of genomics and precision health discoveries into improved outcomes related to rare diseases.
Rare Disease Foundation was founded in 2008 to provide access to research, resources, and community programs for RD patients and their families.
2. Connect your patients with disease-specific local, national, and global support groups.
More than 330 organizations have been established, covering virtually every rare disease. Patients and families are offered a plethora of information, resources, financial assistance, and a strong sense of community. For instance, the National Gaucher Foundation includes an extensive list of nonprofit sources to help families with costs for medications, insurance premiums and co-pays, travel, diagnostic testing, patient airlift programs, and legal services.
3. Help your patients find and enroll in relevant clinical trials.
There are currently almost 25,000 research studies in progress that address 2,701 medical conditions, including numerous rare diseases. Help your patients identify an appropriate trial for their condition, the requirements for participation, what to expect during and after the trial is complete, and what the results may mean. Online resources include Center Watch, one of the largest clinical trial databases on the internet, and Research Match, a free and secure online tool created by academic institutions across the country.
4. Offer resources to the caregiver.
“There are few life experiences more existentially challenging than caring for a child with a rare, serious, or life-altering illness.” - C. Grace Whiting, president, and CEO of the National Alliance for Caregiving 3
Children represent more than 50% of the rare disease population, placing the responsibility for costly, complex, and time-intensive care with parents and other relatives.2 Organizations such as the National Alliance for Caregiving (NAC) and Rare Caregivers were founded to fulfill the often unmet needs related to social support and self-care of those dedicated to caring for a loved one with a rare disease. Recently the NAC and Global Genes published The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses, covering nearly 100 topics related to caring for a child with a rare disease, personal stories, a comprehensive set of resources and information on awareness and advocacy initiatives.
5. Plan for extended office visits to allow time for guidance and counseling throughout the often arduous journey of an RD patient.
Recognize that, on average, patients with rare diseases consult with up to eight physicians, receive two to three misdiagnoses and spend five to seven years before receiving a proper diagnosis.3 These patients and families need longer-than-usual appointments with their primary healthcare practitioner to help with:
6. Partner with an experienced specialty pharmacy that offers extensive and ongoing support.
For several years, Orsini Specialty Pharmacy has been helping physicians care for their patients with rare diseases, using a high-touch approach that includes:
Connect with us for more information on how Orsini partners with healthcare providers to provide expert dispensing, distribution, reimbursement, case management, and other services for patients with rare diseases and complex conditions.
Orsini is a leading independent national specialty pharmacy accredited by ACHC, JCAHO, URAC, and VIPPS. The services we provide allow patients, physicians, payers, and manufacturers to improve care, simplify processes, and achieve better outcomes.Learn More