Commentary by Charles Nakar
Feb. 29 is the next Leap Day, and the rarity of the occasion — of living 366 days in one year — is a chance to celebrate the uncommon.
We use Leap Day in the medical world to celebrate our care for patients with rare diseases, which are defined in the U.S. as those that affect fewer than 200,000 Americans at any given time.
To oversimplify, if your child breaks out into hives after eating peanuts, you might visit your pediatrician and then an allergist. Testing reveals your child has a peanut allergy. Your fact-finding mission ends.
This straightforward process is hardly ever the case for patients with rare diseases. Imagine going to your primary care provider and then a long list of subspecialists — none of whom can determine the cause of your concerns or have ever seen a similar case.
Research is key in advancing the diagnosis and treatment of rare conditions. At the Indiana Hemophilia & Thrombosis Center, we treat rare conditions like hemophilia, plasminogen deficiency, PAI-1, hereditary hemorrhagic telangiectasia, G6PD, thalassemia and more, and research to advance treatments for these and other more common conditions, like sickle cell disease is reliant on patient participation. While researchers and physicians are provided with data to help advance therapies, patients are often given access to groundbreaking treatment to help improve their quality of life — when there might have been little hope in sight.
Advocating for your own health is so important. Your primary care provider is the first place to start, but remain persistent if you’re still searching for answers. Whether a common condition or rare, your tenacity could significantly change your outcome.
In 2020, we all have a chance to live one extra day. Research for rare diseases helps ensure patients live to see many more.
Charles Nakar is a Carmel resident and pediatric hematologist-oncologist with the Indiana Hemophilia & Thrombosis Center. He specializes in congenital bleeding disorders and congenital vascular anomalies.