The road to diagnosis for a rare disease patient is often a long one. Countless doctors, appointments, and tests are typically needed to finally discover the cause behind one’s symptoms. Shelby Lee, a 13-year-old from Newton, GA, experienced this journey first hand when she was being diagnosed with dysautonomia. Now that she has received her diagnosis, she wants to raise awareness and help others with their journeys.
Dysautonomia is an umbrella term for a group of conditions that are all characterized by a dysfunctional automatic nervous system (ANS). The ANS is responsible for a number of involuntary actions, such as digestion, kidney function, heart rate, blood pressure, and more. When one has dysautonomia, they are unable to properly regulate these actions, leading to the characteristic symptoms like unstable blood pressure, fainting, malnutrition, abnormal heart rates, and lightheadedness. These symptoms all occur when the nerves in the ANS are unable to communicate properly. This malfunction can be due to primary dysautonomia, meaning the condition occurs on its own, or secondary dysautonomia, meaning it appears as a symptom of another disease. Examples of conditions that can cause dysautonomia are Parkinson’s, lupus, amyloidosis, and more.
Shelby began to notice unusual symptoms in May of 2018, one of which was an irregularly fast heartbeat. It was actually an Apple Watch that alerted her of this, which then led to a tachycardia diagnosis. Unfortunately, this diagnosis did not address all of the other symptoms that Shelby began to experience, leading her and those around her to suspect something more.
An entire year passed before the referrals from doctors finally led Shelby to Leslie Bishop at Sibley Heart Center Cardiology. It was here that she was diagnosed with dysautonomia. While a diagnosis can be scary, Shelby felt relieved to finally put a name to the thing that was impacting her body and to know that there were treatments. She was also immediately inspired to raise awareness for her condition.
Shelby’s goal is to ensure that nobody else has to endure the long diagnostic process that she did. She made a list of things she could do to raise awareness, and began by volunteering for Dysautonomia International. Her next step was creating an Instagram, titled dysautonomia_warrior_, on which she encourages others and advocates.
Newton’s local government helped Shelby with the next step in her journey to raise awareness; Chairman Marcello Banes declared October as Dysautonomia Awareness Month after a meeting with her. Banes stated that not only did he learn a lot about the condition from Shelby, but that he hopes his entire community does as well.
While Shelby still deals with daily symptoms of dysautonomia, such as a rapid heart beat and fainting spells, she is fighting tirelessly to raise awareness about her condition and help others receive diagnoses. You can read more about her story here.