Patients with rare or complex diseases are in a race against the clock to find the right specialist to diagnose and treat them, as delayed care can negatively affect their outcomes. But the search for a specialist is far from easy: Some 27% of patients with rare diseases visit three or four hospitals before they receive a diagnosis. And for nearly half (46%) of rare-disease patients, a definitive diagnosis can take at least a year.
Healthcare stakeholders can expedite the diagnosis and treatment process for patients with rare diseases, cancer and many other conditions by helping them quickly find the right specialist and providing educational resources that will facilitate informed, productive conversations with their physician. For both purposes, digital platforms that empower patients to take an active role in their care can help.
“It is critical to not only provide resources to physicians around diagnosing rare diseases, but also to empower patients to advocate for themselves,” says Emmanouel Magoulakis, director of global marketing, global rare business unit at Alnylam Pharmaceuticals. “Using technology and digital tools can help ensure disease education is more targeted, reaches the right audience and ultimately helps a patient on their journey to an early, correct diagnosis so they can start appropriate treatment.”
To understand the importance of getting patients with complex diseases into specialty care as soon as possible, consider the rare disease primary hyperoxaluria type 1 (PH1). This condition often presents as frequent kidney stones, which a urologist might treat many times before referring the patient to a nephrologist to search for their underlying cause.
“A delay in finding the right specialist can cause a delay in diagnosis, which inevitably also delays appropriate disease management,” Magoulakis says. In the case of PH1, the longer appropriate treatment is delayed, the greater the damage to the kidneys, which can lead to end-stage renal disease.
Digital doctor-finder tools can streamline patients’ search for the right specialist, and they can be integrated into both branded and unbranded websites. These tools allow patients to search for specialists based on their expertise, location, the insurance plans they work with and other parameters. Some tools can even be configured to allow patients to schedule specialist appointments online.
“Digital tools are very efficient in reaching a broad number of patients in a short period of time. They also allow for flexibility, as patients can engage with them in their own time and in the comfort of their homes,” says Juliana Shimer, director of global marketing, global rare business unit at Alnylam. “The early stages of a patient’s care journey are an important foundation for their care, and it’s important to ensure they are properly educated and feel supported early on, so they are engaged and motivated throughout their care journey.”
Indeed, it’s critical to provide educational resources that are tailored to specific diagnoses so that patients understand what to expect as they embark on their treatment plan. And presenting that education as soon as possible in the care journey is key.
“Reaching patients while they’re seeking care early in the journey is critical to establishing a positive relationship between the patient and the healthcare system,” Shimer says. “Patients that are trusting of their physicians and the care they receive are significantly more likely to be adherent to treatment plans and invested in improving their health, leading to much more positive outcomes.”
