Rare Disease Day is observed each year on the last day of February to raise awareness about little-known and overlooked diseases and to honor those families affected.
Undoubtedly, individuals diagnosed with a rare disease face a multitude of obstacles and daily challenges. Shockingly, some patients are not diagnosed until several years after initial symptoms have appeared, often even 20-25 years later!
Patients’ journeys typically begin in a similar manner. Since so little information is known about the disease the patient is suffering from, they are often shuffled from physician to physician receiving no definitive answers. This results in patients suffering for an extended period of time while their loved ones are forced to watch their struggles—all while having no concrete diagnosis.
When a long-awaited, clear-cut diagnosis is finally received, it is certainly some relief, however, many challenges linger as patients and caregivers try to juggle their normal activities with those related to their care.
To me, Rare Disease Day is a day that says to any person impacted by a rare disease, either directly or indirectly, “We hear you. We see you. You matter. Your story matters.”
Indeed, these individuals’ stories matter more than they may know. For every patient that is diagnosed with a rare disease, researchers and clinicians gain more insight that may help pave an easier path for the next person seeking an answer.
Personally, I feel privileged to have the opportunity to work for such a patient-focused company where I am able to advocate for patients of rare disease. It is extremely motivating and rewarding to help create opportunities for these patients to be diagnosed earlier so they have the chance to receive optimal care and experience better outcomes. It is truly an honor to play a tiny role in the story of a person diagnosed with a rare disease.
The slogan for this year’s Rare Disease Day is “Show Your Rare. Show You Care.” Today, I challenge everyone to #ShowYouCare by learning more about rare diseases and by reaching out to those you know who are impacted.
Pharmaceutical Specialty Representative