According to a story from empr.com, a patient living with Wilson’s disease was recently awarded $28 million from a lawsuit after a jury found that the patient’s doctor had failed to correctly diagnose her rare disease or refer her to someone who could. The patient, who will be referred to as Ms. W, now has the mental faculties of a pre-teen, cannot live independently, and faces a future in which her condition will only deteriorate.
About Wilson’s Disease
Wilson’s disease is a genetic disorder in which the body is unable to process and excrete copper normally. Therefore, this metal accumulates in the body and causes a range of symptoms. It can ultimately be lethal without intervention. This disorder is caused by a genetic mutation affecting the ATP7B gene. Symptoms include nosebleeds, vomiting, weakness, tremors, fluid in the abdomen, muscle stiffness, limb swelling, difficulty talking, jaundice, anxiety, hallucinations, itching, and personality changes. It can lead to more serious complications such as liver failure or liver cancer, as well as kidney issues. Wilson’s disease is usually treated with dietary changes such as a low copper diet and avoiding copper cooking materials, as well as certain medications. Most medications can have serious side effects, however. A liver transplant can be curative but it is usually only done with patients who experience liver complications or who otherwise fail to respond to other approaches. To learn more about Wilson’s disease, click here.
Diagnosing a Rare Disease Can be Tough
Doctors face a unique challenge when attempting to diagnose a rare disease. Often it isn’t easy for a rare disease to be diagnosed based on symptoms alone, as there are a diverse array of rare conditions that can easily look like more common ailments. In other instances, the symptoms may be so unusual or inexplicable that doctors may be tempted to dismiss them as merely psychological instead.
The Tragedy of Ms. W
Ms. W’s story is a sad case of a rare patient failing to get a diagnosis in time, and the consequences for the patient were very dire as a result. Ms. W began experiencing anxiety, fatigue and depression early in her college career. She spoke with her doctor and was diagnosed with mononucleosis after bloodwork revealed elevated liver enzymes. Months later her symptoms only worsened, and she began displaying personality changes and began treatment with fluoxetine. She began experiencing tremors and was referred to a new doctor (“Dr. E”).
Despite concerns from Ms. W and her mother that she be having neurological problems, Dr. E. attributed all of her symptoms to anxiety and depression; the dose of fluoxetine was increased, but the tremor only got more pronounced. Over further appointments, Dr. E dialed back the dose, attributing the tremor to anxiety and too much fluoxetine (fluoxetine is not known to cause tremors as a side effect). Dr. E never performed a neurological exam nor referred Ms. W to a neurologist; meanwhile, other symptoms such as loss of balance and muscle spasms appeared.
At this point Ms. W demanded to be referred to a neurologist or have an MRI. The MRI revealed major brain trauma which a neurologist would later diagnose as Wilson’s disease. She began treatment for the disease but it was too late, and Ms. W remained in a state of paralysis (aside from eye blinking) for over two years. Though she would eventually improve, she would never be able to live an independent life again.
Doctors: set your ego aside. Don’t be afraid to admit you don’t know what’s going on and refer your patient to a specialist; sometimes lack of action can lead to devastating consequences in more ways than one.