With a Rare Diagnosis, Patients Face Long Hunt for Answers
Advocacy A young survivor shares her advice to those facing the challenges of diagnosis and treatment of rare diseases.
Ruthie McGhee was only 26-years-old and finishing her senior year of college at the University of Georgia when she finally sought medical help. The moment came soon after realizing her fatigue and the bruises covering her legs were more than just the rigors of college.
Finding the cause
At first she was diagnosed with aplastic anemia, a condition where bone marrow doesn’t produce enough new blood cells. But after two years of treatment with an immunosuppressant drug, it was determined she had a different, but also rare and life-threatening condition known as paroxysmal nocturnal hemoglobinuria.
McGhee says it is not clear whether she was misdiagnosed at first or if the anemia developed into the other disease.
Diseases often overlooked
One of the issues facing her diagnoses and treatment is the challenge endemic to the rare disease community. “Patients with rare diseases are considered loss leaders,” she says. “Since medicine is a business more often than not, the profit margins are too slim to invest in treatment options for so few patients. It is unfortunate that most diagnosed die before a treatment is discovered.
'“Since medicine is a business more often than not, the profit margins are too slim to invest in treatment options for so few patients.”'
“As a mother of three incredible children,” McGhee continues, “I cannot imagine the fear if one of my children were diagnosed with a rare disease."
How to answer rare diagnosis
So what should you do if you or a loved one faces that situation? McGhee advises asking questions and searching for answers. Be proactive in seeking options, especially clinical trials, and seek patient networks or advocacy groups. "The National Organization of Rare Disorders is one that will help patients with orphan diseases look for answers, make connections or access to forums to help them navigate the journey," adds McGhee.
And she sees progress on the horizon for orphan disease: “Above all, have a positive outlook on life. There are wonderful companies, like Alexion, that are researching and developing new therapies for rare disease patients like me. My hope is that, one day, Rare Disease Day will be a thing of the past.”