Rare diseases often go undiagnosed because they are, after all, rare. A rare disease isn’t usually the first thing anyone thinks of, in light of certain symptoms.
It’s only when doctors know what they are looking for that rare diseases like Wilson’s Disease, are explored.
With Wilson’s disease, the symptoms are a collection of common symptoms that fit other various diseases, making it difficult to distinguish and diagnose. The trick is for doctors to observe the symptoms not individually, but as a whole.
The human body is a complex organization, and doctors have yet to master it. If only a diagnostic tester could be placed into a port and then send its readings to a computer for us to analyze. But we’re not there yet. Doctors must rely on diagnostic tests and the naked eye to figure out real, underlying issues. This can be as maddening as it is life threatening.
No one knows this more than Zoe Howman, a teenager whose Wilson’s syndrome symptoms did not add up to a diagnosis at first, which nearly cost her her life.
If you are living with a chronic, rare disease, you can probably relate to her story. It wasn’t until her symptoms came to an apex that she finally got clear answers.
Zoe’s symptoms started with vomiting, leg pains, tiredness, and nosebleeds. Her doctors were dumbfounded. Each symptom lent to its own mystery—not one of them provided any real clue.
It was not until her eyes and skin turned yellow that her doctors keyed into the cause of her distress.
Wilson’s disease is a rare genetic disorder that causes too much copper to accumulate in the liver. In a healthy person, the copper is turned into bile and removed by the body; however, people with Wilson’s disease cannot extract the copper properly. If it is caught early enough, it can be treated rather successfully. If it is not, it can be deadly.
In Zoe’s case, doctors caught it just in time to save her life.
Although, she did need a liver transplant to survive.
Her mother said: “It’s horrible to think that we could have lost Zoe because her symptoms are so easily confused with other conditions…” That gets down to the crux of the entire issue.
Awareness for rare diseases is about more than funding for research.
It’s about saving lives and not losing them because of a lack of information.
Read more about Zoe here.
What to weigh in on the controversy that is misdiagnosis? Have any personal experience? Share it in a comment below!