Gray D., Senior
The medical profession is widely held in high esteem. This doesn’t mean that things don’t sometime go horribly wrong with missed diagnoses or incorrect diagnoses. There are patients with diseases that mystify doctors and patients whose symptoms are dismissed as psychosomatic. These can lead to a misdiagnosis and even an unexpected death. This means that there are everyday people who are living with a condition that cannot be determined, and therefore cannot be treated correctly. It is estimated that nearly 100,000 people die each year in the United States due to mistakes that hospitals make while their patients are in their care. It is also believed that most people will experience at least one delayed medical diagnosis or misdiagnosis during the course of their lifetime (Medical Malpractice). But some cases can be worse than others.
Some individuals claim that they frequently visit medical facilities with rare illnesses that are difficult to diagnose, or typically go underdiagnosed. These individuals may consult several physicians over long periods of time and not receive any definite diagnosis. This is what happened to sixty year old Dee Reynolds. Speech slurring, weaving while walking, precarious balance, and uncontrollable movements are just some of the symptoms Ms. Reynolds of Northern Virginia reported to doctors. Reynolds first noticed her symptoms in 2005, and from then on they grew progressively worse. After countless doctor appointments and years of waiting, Reynolds was anxious to find answers. In 2018 she was chosen to participate in the Undiagnosed Diseases Network (UDN), which is a research study backed by the National Institutes of Health Common Fund that seeks to provide answers for patients and families affected by these mysterious conditions. In an interview with The New York Times, she explained the experience was “a year’s worth of testing in four days,” and “The first day was 25 vials of blood.” She went through intense testing and was given high quality care through this process. Several months after the testing, in December of 2018, she finally received a phone call from the UDN. They explained that Ms. Reynolds had an inherited disease that occurs in childhood: Niemann-Pick Type C. The typical patient is a child who develops difficulties with walking and coordination.
These conditions and rare diseases go undiagnosed on a regular basis and are overlooked or dismissed as a psychosomatic problem, but even though Dee Reynolds received the correct care, there are still many suffering from the mental, physical, and social effects of being categorized an undiagnosed patient. The UDN is doing a great job, with a clinic in Seattle, WA at the University of Washington, School of Medicine and Seattle Children’s Hospital. There are 17 clinics around the United States that have been bridging the gap between clinical care and research. Though the problem is not solved, clinics like this can begin to address the issue that critically affects so many lives.