Rufino Borrego was 13 when he was diagnosed with an incurable muscular dystrophy. For over four decades, he used a wheelchair to get around.

It was only in 2010 that a neurologist discovered that the man had been given the wrong medical diagnosis. Instead, he was suffering from a different disease that weakens the muscles – myasthenia. Although rare, myasthenia was not an incurable progressive disease like muscular dystrophy. Instead, it could have been easily treated by taking asthma medication.

Learning how to walk for the first time in 43 years

As a result of the medical misdiagnosis, Borrego only re-learned how to walk in his fifties. And just a year after his new diagnosis, he was finally able to walk for the first time to his usual neighbourhood café.

Only now at the age of 61 is he finally able to lead a normal life without his wheelchair. He only requires two physiotherapy sessions each year.

Even though the medical misdiagnosis had caused him to spend most of his lifetime in a wheelchair, Borrego insists that he does not harbour any ill feelings against the hospital that had given him the misdiagnosis.

“I just want to make use of my life,” he said.

The role of medical advancement in preventing misdiagnosis

Mr Borrego’s misdiagnosis can largely be attributed to the fact that the disease myasthenia was unknown to the medical profession in the 1960s. It was only recognised by healthcare professionals in the 1970s, and even then, medical trials had to be conducted in order to truly understand this rare disease.

He is not alone. The lack of medical understanding in certain diseases – especially rare diseases – has contributed to a significant number of medical misdiagnosis in patients. More often than not, ailing patients find themselves receiving treatment that they do not actually need as a result of the misdiagnosis.

In fact, according to the Institute of Medicine, most patients are likely to suffer from at least one wrong or delayed medical diagnosis during their lifetime.

Journalist Nika Beamon is yet another victim of medical misdiagnosis. Suffering from a rare and relatively unknown autoimmune disease known as igG4 related systemic disorder, the lack of medical understanding and research in the disease resulted in multiple occasions of misdiagnosis.

She was repeatedly tested for various illnesses such as sickle cell anaemia, lupus, multiple sclerosis and sarcoidosis. She also went through several unneeded operations and took hundreds of pills – all in an attempt to cure diseases that she did not even have.

Country artist Kris Kristofferson who had been battling with memory issues for years, was also misdiagnosed with Alzheimer's disease. He later discovered that his memory problems were the result of untreated Lyme disease. His conditioned improved drastically after just a few weeks of receiving proper treatment for Lyme disease.

As it is a relatively new disease, the causes behind Lyme disease were only discovered in the 1980s. Even today, the diagnostic tools for Lyme disease are still considered to be unreliable by medical professionals. MIMS

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