In 2005, Sara Ashenfelter began experiencing weakness, difficulty breathing, and recurring infections. After a variety of lab tests didn’t provide any answers, a nurse at PPD’s health clinic suggested Sara see a lung specialist. This specialist became her game-changing medical guardian angel. The doctor was determined to find an answer for her, even if her illness didn’t fall within his area of expertise.
Learn why Sara Ashenfelter participates in clinical trials to help advance treatments for rare diseases in her video below.
Over the next few years, Sara saw specialists in cardiology, rheumatology, neurology and other therapeutic areas. She traveled across the country searching for an answer, but time went on without a diagnosis. Finally, Sara’s lung specialist referred her to a clinic for interstitial lung diseases. At last, the doctors identified the problem: a rare genetic lung disease accompanied by a variety of other diseases, many involving the immune system.
Ultimately, Sara was diagnosed with common variable immunodeficiency (CVID), a disease that affects the body’s ability to make immunoglobulin, important antibodies that help fight infections; idiopathic thrombocytopenic purpura (ITP), a disease that makes it difficult for blood to clot; lymphocytic interstitial pneumonitis (LIP), an interstitial lung disease that affects energy levels and the ability to breathe; and otosclerosis, which makes hearing a challenge for Sara.
The diseases Sara faces have no cures, but her doctors collaborate to ensure an ongoing treatment plan is regularly evaluated and in effect. This includes monthly intravenous infusions for which she receives the pharmaceutical medication and administration supplies directly to her front doorstep several days ahead of time, and in-home nursing care on the day of the infusion. She has also participated in clinical trials, hoping to help researchers discover more about genetic development and illnesses that arise from problems in gene development.
“I am grateful that PPD is blazing trails in rare disease research and helping deliver therapies that could change my life, and the lives of all rare disease patients,” says Sara. Researchers will hopefully be able to learn more about these diseases through clinical trials like the one Sara participates in, and, ultimately, discover cures.