For People with Rare Diseases, it is Often a Long and Winding Road

By Jill Doran, BA, BSN, RN

Clinical Nurse Educator

The patient journey is rarely linear; for those with a rare disease, it may be winding and complex, confusing and even chaotic.

For anyone navigating through the healthcare system, it may be a journey involving primary care providers, referrals to specialists, and multiple tests to receive a definitive diagnosis. There is often a group of allied healthcare professionals who support a plan of care specifically designed for the patient’s new diagnosis in conjunction with the overall health history.

However, for a person with a rare disease, the experience is often complicated by a lack of established guidelines. A condition may be so rare, awareness is still needed within the medical community itself. Some syndromes are so rare, they may not even have a name.

One patient explained that she had been going back and forth seeing different specialists for two years. Finally, she was diagnosed with a rare disease. The patient said, “It would have been ideal to capture this sooner. I could have started this treatment earlier.”

Collectively, rare diseases are anything but rare. In fact, there may be as many as 7,000 rare diseases in all. The total number of Americans living with a rare disease is estimated at between 25 and 30 million.

Most patients with rare diseases require more extended and more frequent visits with their healthcare providers. Addressing the complexity of the journey and enhancing the patient experience is crucial for people with rare disease. Patients and families who receive ongoing education and support often have a better understanding of their condition and an enhanced or empowered approach when it comes to managing it.

An effective support system is one that is geared towards the patient’s specific needs in relation to where they are in the journey. As clinicians, we deal with scores of logistics and processes in the periphery, but beyond our daily tasks, it is crucial to focus on the most critical component– the patients. Here are some ways clinicians and educators can better support people with rare disease:

1. Personalized Support – Rare disease is already challenging to diagnose due to the limited available guidelines and resources for clinicians and the community. Patients and their families often research and “self-educate.” In between visits with care providers, personalized support from a Clinical Educator on the team deepens the patient’s knowledge of the condition. It enhances their ability to manage the disease by addressing the patient’s needs and the caregiver’s needs simultaneously.

2. Patient Connection and Caregiver Connection – It is common for people with rare disease to quickly feel isolated because it is uncommon to meet others with the same diagnosis. Even patients who are diagnosed with the same rare disease will have their unique experience, as is common in the specialty in which I work as Clinical Nurse Educator. Connecting with other patients and caregivers in “real time” is an immense source of support and promotes learning outside the office, which in turn fosters solidarity and a sense of community. The National Organization for Rare Diseases connects patients to advocacy groups pertaining to their rare condition on the local and national level. Please review the information by NORD here: https://rarediseases.org/for-patients-and-families/connect-others/find-patient-organization/

3. Online Platforms – For patients and families who use media, there may be online resources such as educational fact sheets, DVDs and webcasts where the patient experience is shared to expand knowledge for the community as a whole. However, be sure that the sources of such information are credible organizations such as national advocacy organizations, major medical institutions, or governmental agencies such as the NIH or the CDC.

4. Patient Support Programs – There are sometimes patient support programs available for people starting on a therapy. These patient support programs may be offered by pharmaceutical manufacturers specific to the therapy and managed by licensed healthcare professionals who are trained in a specific condition and who can direct patients to appropriate and authoritative sources. Patient support programs are an excellent way for patients to receive more information surrounding their disease as well as the therapy they are on.

NIH. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases

In my role as a Clinical Nurse Educator, I have provided support and education to people with amyotrophic lateral sclerosis (ALS) and other rare diseases. I understand the difficult patient journey for people with rare diseases and feel honored to be able to help patients and families obtain the specialized support they need.

Related – Paths to Patient Support in Rare Diseases

Jill Doran is a Clinical Support Educator with VMS BioMarketing. She joined the team in 2017.