How Specialty Pharmacies Support 30 Million Americans on Rare Disease Day and Beyond

If asked to name a rare disease, I imagine most people would struggle; however, they may actually know someone—a neighbor, cousin, friend, or parent—who is battling one. The shocking reality of rare diseases is that they’re more common than you think. For instance, many types of cancer fall under the rare disease category, including certain types of ovarian, breast, and brain cancers.
A disease is defined as rare when it affects fewer than 200,000 Americans at any given time. There are 7000 identified rare diseases globally and it is estimated that 30 million Americans are currently coping with a rare disease. Yet, only 5% of rare diseases have an FDA-approved treatment.
To drive awareness that can lead to support, research, and new treatments, the National Organization for Rare Disorders (NORD) launched Rare Disease Day, which is observed in the United States annually on the last day of February. Throughout the year, NORD and thousands of other community care practitioners provide support to patients and caregivers who are impacted by a rare disease.
On average, a rare disease patient’s journey to an accurate diagnosis can last more than 5 years and can include 2 or 3 misdiagnoses at first.1 The path to an accurate diagnosis is often the first of many challenges to be faced.
To accommodate these patients, stakeholders in the health care system need to go beyond prescribing and dispensing medication. Holistic, personalized care can help patients make individual adjustments aimed at improving quality of life and realizing the full potential of treatment.
This type of high-touch patient support is critical to advancing rare disease care and requires coordination among caregivers, physicians, specialists, pharmacists, insurance companies, and drug manufacturers.
I recognized long ago that as a pharmacist, I play an important role in supporting rare disease patients. Now, as the leader of a specialty pharmacy, I find it more important than ever to ensure my team stays connected to our true purpose of helping patients have healthier futures.
To achieve this purpose, we must work in concert with other members of the patient’s health care team. The impact of rare diseases on patients and their families can be extremely challenging.
To offer the kind of patient-centric support that goes beyond the dispense, we must stay focused on fundamentals, such as compassion and effective communication. Consistent and exceptional service levels at a specialty pharmacy are essential to ensure a certain standard of quality and continuity of patient care, but the pharmacy also needs to be flexible enough to engage in collaborative problem solving and finding solutions that engage stakeholders to make an individual patient’s life better.
Specialty pharmacies can’t solve every patient problem, but because we exist at the nexus of health care stakeholders, we can increase collaboration that leads to better care. For example, a patient with hereditary angioedema, a rare and life-threating condition, may rely on a specialty pharmacy to dispense medication that is taken at the onset of swelling caused by the condition.
Seconds count if swelling of the airway or throat begins, but the patient may be taking a medication that must be administered by a physician. A pharmacy can work collaboratively with the insurance company, prescribing physician, and the patient’s local health system to dispense at the site of care best for this emergency situation.
Many patients with rare diseases require multiple medications and complex treatment regimens to manage their symptoms, alleviate pain, and mitigate side effects. Highly-skilled pharmacy clinicians are available 24/7 to provide education and support that supplements patient-prescriber interactions.
In addition to helping patients with rare diseases with dynamic and specific needs that may arise, pharmacies increase the prescribing physician’s visibility into factors that could impact access, adherence, and outcomes through actionable updates.
As health care stakeholders work in partnership to resolve barriers to access and design programs that consider the patient holistically, we work with countless others dedicated to helping those suffering from a rare disease. You do not have to be in the health care field to get involved and often the first step is education—learn more about the conditions that may affect you or someone you know.
Attend events, walks, become active in the community, and spread knowledge about the impact these diseases have on people across the country every day. Rare Disease Day is a great reminder that by working together, we can continue to raise awareness, offer support to patients and their families, and eventually find new treatments and cures. 

1. Global Genes. “Rare Disease Impact Report: Insights from patients and the medical community” Accessed 3 February 2017.
2. Luxner, L. (2018, January 30). NORD Fundraiser Sets 7,000-Mile 'Bike, Run or Walk' Goal for 7,000 Rare Diseases. Retrieved February 01, 2018, from
3. Healthline. The Outlook for Ovarian Cancer: Prognosis, Life Expectancy, and Survival Rates by Stage.
4. American Cancer Society. Can Ovarian Cancer Be Found Early?

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