Rare Disease Awareness
“When you hear hoof beats,” a saying among doctors, “Think horses, not zebras.” When you present your symptoms to a doctor, said doctor is most likely going to think of the most simple, common diagnosis first, order a test or two, write you a prescription, and send you on your way.
But what if this approach doesn’t work?
What if your medical problem really is less of a “horse” and more of a “zebra”?
Such was the case for Dr. Diane Dike of Eagle, CO. While working as a teacher at age 23, Dike’s legs turned black, painful and were nearly amputated. After three years of recurrent similar episodes of extreme intensity and multiple hospitalizations, she was diagnosed with cryoglobulinemia, abnormal proteins in the blood that turn the blood into a jelly-like substance under cold and stress. Inflammation of the blood vessels, in turn causes chronic joint pain, rashes, digestive problems, and damage to the heart muscle and other organs.
Cryoglobulinemia is most common in patients with hepatitis C. For a woman with no history of hepatitis to be diagnosed with cryoglobulinemia in her twenties was unheard of. She is considered one in a million.
Dike frequently uses a wheelchair to keep her legs elevated in order to prevent attacks; she must dress in full winter clothing to keep her body warm to prevent attacks, but that doesn’t stop her from living a full life of rescuing animals and children. A Ph.D. in counseling psychology and human services, Dike started the nonprofit Second Chance with Saving Grace, an organization that offers help, shelter, and comfort to suffering adults, children, and animals. She began the world’s first Cryoglobulinemia Vasculitis Organization CVO. She helps people know that they are not alone.
Cryoglobulinemia is only one of approximately 7,000 rare diseases in existence-- diseases that affect less than 200,000 people in the U.S. population. For most of these diseases, no cure or treatment exists.
A lot can be said for the development of medicine in the last century. Doctors can now repair trauma and treat disease better than ever; however, we still have farther to go. Additionally, patients, families, and caregivers of those with rare diseases face profound disability, insurmountable medical bills, lack of community support, and unbearable stress.
As if those problems are not enough, the medical professionals we trust to treat disease and relieve suffering often know very little about rare diseases. Complicated symptoms that take one to multiple specialists might result in misdiagnosis or no diagnosis and inadequate treatment. Plus, research funding is lacking and clinical trials are hard to organize.
We need better treatments and diagnosis for rare diseases. We need less toxic treatments with fewer side effects. We need patients to be able to go into a doctor’s office with the expectation that the doctor will believe their symptoms, even if they do not look sick. We need to perform the diagnostic tests that are absolutely necessary. We need insurance companies to cover more and better treatment for rare diseases. We need patient-centered, compassionate, individualized care from our doctors and hospitals. We need more physical and emotional support for families and caregivers of those with rare diseases.
The last day of February of every year has been deemed “Rare Disease Day.” February 29, 2016 represents a day of hope for change in the study, treatment, and prognosis of rare diseases. It reminds all of us that there are “zebras” in our midst that need and deserve our support.
Written by: Amanda Bower
with Diane Dike, Ph.D.
with Diane Dike, Ph.D.
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