A controversy arose over a 20-year-old woman, who had been bound – entirely unnecessarily -- to a wheelchair for 13 years because doctors had misdiagnosed her case as cerebral palsy. As it turned out later, however, the disease inflicting her was not cerebral palsy but the Segawa syndrome.
Segawa syndrome, also known as Dopa-responsive dystonia, is a genetic movement disorder. The illness causes abnormalities in an enzyme that leads to the diminished production of dopamine, a neurotransmitter that plays several critical roles in the brain and body. Symptoms include the involuntary muscle contractions and tremors.
This disorder, which is often mistaken for cerebral palsy or other diseases, only affects about one in a million people and usually manifests itself during the patient’s early childhood.
The problem began when the girl, surnamed Seo, was diagnosed with spastic diplegia, a form of cerebral palsy which obstructs a person’s ability to use his or her legs, at a university hospital in Daegu in 2001.
It was not until 2012 that Seo learned that her illness was something entirely different. A physiotherapist, who worked at a rehabilitation center in Seoul, raised the possibility that Seo might have a different illness. After analyzing the MRI scan the university hospital in Daegu had used, a Seoul hospital re-diagnosed Seo with Segawa syndrome.
A doctor at the Seoul hospital noted that most of her symptoms would improve or disappear with a daily dose of a medication known as L-Dopa.
Afterwards, Seo’s family demanded an apology from the university hospital in Daegu that made the initial diagnosis. However, the hospital stopped short of providing the family with a proper apology, which led to the family suing the hospital in December 2015. The Daegu District Court ordered the hospital to compensate the family with 100 million won ($91,660) last Wednesday.
However, a controversy arose after the court ruling was made public. The public is split into two groups, with one side arguing that the compensation was not enough for Seo who lost 13 years of her life, while the other side claimed that the misdiagnosis of Segawa syndrome, although tragic, was unavoidable as it was difficult to identify with the medical technology available at that time.
The latter group said that the rare disease only became known around 1999 and appeared in textbooks of medical students in 2010.
The controversy has also brought back a past case that involves a U.S. woman who went through a similar ordeal to Seo’s. In 2015, a U.S. news outlet reported that Jean Sharon Abbott, 38, who had spent nearly all of her life believing that she had cerebral palsy, was re-diagnosed with Segawa syndrome.
During that time, Abbott portrayed no regrets about getting her correct diagnosis so late in life.
“I’m not angry. Not in the least,” Abbott told The Mighty, the U.S. news organ. “When you live your whole life not being able to do things, the day you start being able to do them, you can’t be anything but grateful.”
Jean currently works as an advocate for raising awareness for Segawa Syndrome. She also posted a YouTube video to help others recognize the symptoms of the illness in 2014.
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