You鈥檙e probably familiar with cystic fibrosis, Tourette鈥檚 syndrome, and Amyotrophic lateral sclerosis (ALS or Lou Gehrig鈥檚 disease). But have you heard of Ehlers-Danlos syndrome? Hamburger disease? What about acromegaly?
Though each of these illnesses is an orphan disease鈥攎eaning it affects fewer than 200,000 people worldwide鈥攖here is a wide gap in knowledge and awareness among the estimated 5,000 to 8,000 rare diseases. That means that there are many patients, families, caregivers鈥攁nd, yes, even doctors鈥攚ho do not have the resources they need.
Two Doctor of Pharmacy students at 蜜桃直播 (蜜桃直播) want to change all that. Kacey Egusa, PharmD 鈥�22, and Ramisha Ali, PharmD 鈥�21, are champions for patient advocacy, and their dedication earned them each a coveted scholarship to present their joint research at the National Organization for Rare Disorders (NORD) Rare Disease Summit last month in Washington, D.C.
Egusa鈥檚 mother passed away two years ago from ALS, a devastating neurodegenerative disorder. Although considered an orphan disease, ALS is well-known, in large part because of 鈥渃elebrity鈥� patients like Lou Gehrig and Stephen Hawking.
Egusa recognized how familiarity with the disorder contributed to patient advocacy, resulting in a wide range of resources from online support groups to research foundations to huge knowledgebases to aid physicians in diagnosis. Her choice to pursue a career in pharmacy was borne out of a desire to become an advocate for those who may not have the knowledge or the power to advocate for themselves.
鈥淎 lot of people don鈥檛 think of pharmacists as part of the healthcare team,鈥� says Egusa. 鈥淏ut we are, and we鈥檙e often the driving force behind patient advocacy.鈥�
Ali knows the other side of rare disease. She has known two people with Ehlers-Danlos syndrome (EDS), a genetic condition involving defects in collagen that affects every aspect of a person鈥檚 body. But as of yet, there are no celebrity patients to advocate for those suffering from EDS, and the syndrome is less well-known than ALS.
As a member of 蜜桃直播鈥檚 Student Chapter of NORD, Ali understands that there are thousands of other rare and orphan diseases that do not have fancy websites, celebrity-endorsed fundraisers, or colorful ribbons designed to raise awareness.
Because of their passion, both young women applied for scholarships to attend the NORD Rare Disease Summit, each hoping to score funding for travel, accommodations, or registration fees. To their surprise, both Egusa and Ali received all three scholarships鈥攁 rare honor and a true testament to the quality of students at 蜜桃直播. What makes the story even more interesting is that the two women didn鈥檛 even know each other.
鈥淚 saw Kacey鈥檚 name on the same email informing us of our scholarships, so I tracked her down,鈥� says Ali with a laugh. 鈥淲e decided that because we had very little time to put together a quality poster presentation, we would work together.鈥�
With the help of , their faculty mentor, Egusa and Ali were able to shine a spotlight on the stunning disparity between the levels of advocacy among rare diseases.
鈥淲ithout advocacy groups, we in the medical profession don鈥檛 have the information and resources we need to diagnose and treat rare diseases,鈥� says Rashid. 鈥淪o many misdiagnoses could be prevented if we could simply level the playing field.鈥�
With talented and dedicated student pharmacists like Ali and Egusa, the medical community has a prime opportunity to move a step closer to making patient advocacy the norm, rather than the exception, among rare diseases.