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Caring for Your Patient with a Rare Disease
Patients with a rare disease present unique challenges for primary care providers (PCPs). Obstacles to caring for these patients include diagnostic delays and a lack of information, expertise, and treatment options for many rare diseases. PCPs play a vital role in enhancing the quality of life for patients and families living with a rare disease by making appropriate referrals to specialists, helping to coordinate care, and assisting patients in obtaining the proper support.
The Genetic and Rare Diseases Information Center (GARD) maintains a list of diseases to help healthcare providers and patients find reliable information. Although inclusion in our list does not serve as an official designation that a disease is rare, you can check the GARD website to see whether your patient’s disease is included. The conditions listed on the GARD webpages include a general summary (e.g. symptoms, cause, inheritance pattern, diagnosis, and treatment), patient advocacy organizations, and links to more in-depth information. The following questions can help you provide support for your patients with a rare disease.
How can I help my patients have a more successful office visit?
You may not have seen many patients with the same rare disease diagnosis, but there are steps you can take to accommodate the special needs of those with a rare disease. For instance, many patients with a rare disease will require longer and more frequent visits with their primary care physician. Patients with a rare disease often come to an appointment having already spent many hours studying the medical literature. They are often compelled to become experts about their disease due to the lack of natural history studies, evidence-based research, and treatment information for most rare diseases. While some patients have a high level of understanding, others may need advice on how to interpret the information they have found. With highly motivated and well-informed patients, the traditional physician-patient relationship, in which the patient plays a more passive role, may not be appropriate.
It may be helpful for you to:
- Alert office managers that patients with a rare disease may need to either schedule a longer appointment or schedule consecutive appointments with you.
- Provide brochures when possible. The information discussed during an office visit can be complicated or overwhelming for any patient, especially for those with a complex rare disease.
- Offer a printed clinical summary of the visit. These summaries are often part of the electronic medical record software system. It can help the patient to have written documentation of current medications, details about what was discussed during the visit, doctor recommendations, and the date and time of the next appointment.
- Support the patient in developing the confidence and motivation he or she needs to take control of living with the rare disease. This might involve a more patient-centered approach to communication. Rare disease patients may benefit from being more assertive and involved.
- Actively engage the patient in decisions regarding his or her care. The patient's involvement in the treatment process can positively affect the healing process and can alleviate feelings of uncertainty that often accompany a rare disease diagnosis.
- Address the frustration and sense of helplessness for both you and the patient regarding the lack of evidence-based research with which to guide medical care. Be aware that your understanding of the patient's personal experience may be all you have to guide your decisions.
How can I help my patients if I do not specialize in their particular rare disease?
Although individuals with a rare disease often require referrals to several specialists, there are many ways you can be of service.
- Help patients with a rare disease remember preventive care strategies. Routine preventive care, such as vaccination and screening for potential complications of a rare disease, is important but easily overlooked.
- Refer your patient for a genetics consultation when appropriate. Alternatively, you might offer to perform a detailed family history and physical examination of family members to help identify others who are either affected or at risk. This is especially important for inherited conditions with variable expressivity for which symptoms may be subtle.
- Provide much-needed continuity of care. Your long-term, trusting, and supportive therapeutic relationship can make the rare disease journey a bit easier.
- Help adolescent patients with a rare disease transition to adult care. Resources such as the following may be helpful for your patients: Taking Control: Gaining Independence as a Young Adult with a Rare Disease.
- Acknowledge that many rare and genetic diseases have no cure; however, you can help with symptom management and offer practical support to address disabilities. It may help to focus on factors having the biggest impact on quality of life for a given patient and his or her family. In some cases, a referral for Palliative Care may benefit patients needing specialized care for serious illnesses.
- Coordinate and consult often with other treating specialists and healthcare providers. Multisystem involvement can require complex care by a number of clinicians. As the primary care physician, you know the patient’s story and play a key role in coordinating and advocating for accessible, ongoing care.
- Help patients with a rare disease perform a personal assessment of the risks and benefits of medical procedures and treatments. Sometimes the only treatment options for a rare disease may be the off-label use of a medication or an experimental therapy. This might mean asking about symptoms that have the greatest impact on a patient's quality of life. This information will differ from patient to patient.
- Advocate for patients at risk of harm from experimental investigations or therapies. This may mean acknowledging the limitations of therapies that are not evidence-based and encouraging the patient to think critically about risky or expensive therapies. In some cases, this may mean searching the literature on behalf of the patient or directly contacting principal investigators or other practitioners.
How can I supplement my knowledge about a rare disease?
GARD can support you and your patient by gathering the following types of resources: disease information, research studies, clinical trials, disease experts, patient advocacy organizations, medical experts, peer-reviewed medical journal articles, and genetic services. We encourage you to contact a GARD Information Specialist to assist in your search. You can send an email or call 1-888-205-2311 to speak directly with an Information Specialist.
If I have questions about treatment for my patients with a rare disease, where can I look?
Although treatment guidelines may not have been developed for most rare diseases, the following sites offer information for the medical community regarding the diagnosis and treatment of individuals with many rare diseases. We have also included sites with information about research opportunities.
- GeneReviews offers expert-authored, peer-reviewed disease descriptions ("chapters") focused on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
- The National Organization for Rare Disorders (NORD) is a federation of nonprofit voluntary health organizations serving people with rare disorders. NORD provides online educational resources for medical professionals with Physician Guides for several rare diseases.
- Rare Best Practices is a European resource with clinical practice guidelines for rare diseases.
- The National Center for Biotechnology Information (NCBI) has a database, MedGen, which organizes information related to human genetic conditions.
- The Agency for Healthcare Research and Quality (AHRQ) lists clinical practice guidelines from the National Guidelines Clearinghouse.
- Orphanet is a reference portal for rare diseases and orphan drugs. Orphanet has general information about diseases and international treatment centers and research opportunities. Orphanet’s aim is to help improve the diagnosis, care, and treatment of patients with rare diseases. Orphanet also has Emergency Guidelines which are intended to help physicians treating rare disease patients in emergency situations.
- The Rare Diseases Clinical Research Network (RDCRN) aims to develop new treatments, deepen knowledge, raise awareness, and direct patients to appropriate services. It is assisted by the efforts of researchers, doctors, and patient groups. The RDCRN has a Contact Registry for patients who are interested in learning about clinical research trials. The NIH has a listing of 22 RDCRN consortia.
- Patient advocacy organizations often have Medical and Scientific Advisory Boards with specialists who may be willing to consult with other physicians. Our GARD webpages have some organizations listed. GARD Information Specialists are available to provide additional assistance.
- Clinical research trials can be a good way to find cutting-edge treatments for rare conditions or experts interested in researching a condition. The GARD website guide How to Get Involved in Research has information about clinical research trials and patient registries.
- Project Orphan Anesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, and the European Society of Pediatric Anesthesia.
How can I support my patients with rare diseases?
Addressing the psychological impact of a rare disease is important. By talking with patients about the importance of treating both the mind and body, you can help widen the focus from physical symptoms and a medical diagnosis to a concern for the patient’s overall quality of life. Support groups can be empowering by helping a patient with a rare disease feel less isolated or learn how to advocate for his or her condition. Patients with a rare disease often mention the power of shared experiences and the positive effect this can have on one’s well-being.
Individuals and families dealing with a rare disease often report a significant financial burden as well. Parents are often forced to reduce work hours or quit working altogether to care for a child with a rare disease. In addition, out-of-pocket expenses may include medical equipment or home accessibility modifications.
The following resources may help your patients find both emotional and financial support.
- The Caregiver Action Network has information and resources for rare disease caregivers.
- Global Genes has RARE Toolkits that provide individuals with usable information about a variety of topics related to living with and/or advocating for rare disease patients.
- GARD has an Organization Search to help you find advocacy organizations that support rare diseases. You and your patient may also contact GARD directly.
- The National Organization for Rare Disorders (NORD) website includes information about finding or starting a patient organization.
- GARD has resources for Financial Assistance.
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Last updated: 1/30/2018
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