Patients with rare disorders are advised to seek a second opinion to ensure better and more careful diagnosis of their condition, the Taiwan Foundation for Rare Disorders said yesterday.
The foundation cited a recent case involving the son of its managing director, Serena Wu (陳莉茵), at a press conference held yesterday to highlight its call.
According to Wu, her son, Terry (
Serena Wu said that for the past 16 years, her son had been diagnosed with Urea Cycle Disorder NAGS Deficiency, an enzyme metabolism disorder, and Secondary Carnitine Deficiency by a US physician, Jerry Vockley of Yale University
Vockley and his associates published a nine-page paper in 1992 using Terry Wu's case as an example.
The diagnosis was proven wrong 10 months after his death, as the results in two separate skin tissue DNA tests carried out by Hwu Wuh-liang (胡務亮), a physician at National Taiwan University Hospital's Department of Pediatrics and Medical Genetics, and Nelson Tang (鄧亮生), a chemical pathology professor at the Chinese University of Hong Kong. The two tests showed that Terry Wu suffered from Primary Carnitine Deficiency and should have taken carnitine supplement on a regular basis.
Serena Wu said she was never told that taking the supplement would be a "a matter of life and death" to her son.
Terry Wu stopped taking carnitine during his mother's stay in the US last year, leading to a deadly cardiac failure, Wu said.
"When I discovered the truth, it's like my son died for the second time," Serena Wu said, adding however that she did not blame Vockley or the co-authors of the paper.
She said she hoped young doctors were brave enough to challenge diagnoses made by their peers.
Li Tsung-te (
"[Terry Wu's case] reminds us once again how rare some disorders are. [Doctors'] lack of knowledge of some of these illnesses has contributed to numerous incorrect diagnoses in the past," he said.