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