Mr Warren Sheldon Humphries was diagnosed with Charcot-Marie-Tooth disease in 2020 and now uses a wheelchair. PHOTO: KENNETH LOW


SINGAPORE – Tour guide Warren Sheldon Humphries was 47 when he started noticing that he was walking strangely and had poor grip strength.

He was working as a funeral director then.

“I had just started at that new job, so I did not give (my weakness) much attention,” said Mr Humphries, who was then in his second marriage and had a daughter with his first wife.

Eventually, he decided to seek help and was referred to the National Neuroscience Institute (NNI), where he did not receive a definitive diagnosis but was monitored.

“I had follow-up checks at NNI at six-month intervals, and I skipped them. You could say I just let the condition be,” he told The Straits Times.

Over the next four years, his condition worsened, and different doctors continued to be baffled by it.

“(I was told) it was muscle dystrophy, kidney-related issues, spondylosis caused by lower-back injuries from national service. One (doctor) even said it was possibly a stroke,” said Mr Humphries, who is now 55 and uses a wheelchair.

In April 2020, he was finally diagnosed with Charcot-Marie-Tooth (CMT) disease, a rare hereditary motor and sensory disorder characterised by progressive loss of muscle and loss of the sensation of touch across various parts of the body.

Dr Joy Vijayan, a consultant with NNI’s Department of Neurology, said of the disease: “It is categorised into many different subtypes based on the part of the nerve affected, the deficient or abnormal protein seen and the inheritance pattern.

“It usually presents with motor and sensory symptoms in the form of weakness, loss of sensation and unsteadiness of gait.”

He said the prevalence of CMT disease varies across countries, with a global frequency of 15 per 100,000 people. The condition affects more males than females.

Dr Vijayan said the disease usually starts in the farthermost parts of the nervous system, so changes are first seen in the feet, where there is muscle shrinkage, with weakness of the small muscles of the feet.

Nerve cells, also known as neurons, send and receive electrical messages to and from parts of the body to help control voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down.

“This leads to deformities of the feet in the form of hammer toes and development of high arches. The presence of these skeletal deformities prompts the physician to suspect an inherited neuropathy,” Dr Vijayan explained.

He said CMT can start at any age and vary in severity.

Often, the slow progression, mildness of symptoms and poor awareness of the disease among the public means it tends to go unnoticed for several years before it is confirmed as a diagnosis.

According to US academic healthcare organisation Cedars-Sinai, CMT can be difficult to diagnose, especially when there is no established family history.

Mr Warren Sheldon Humphries is now a Sentosa Wheel-Venture Accessibility Tour docent, or guide. He is seen here with fellow guide Joanne Toh, 53, at Sentosa’s Glow Garden. PHOTO: TRIBE TOURS

Dr Vijayan said there are currently no nationally approved medical treatments to stop or reverse the disease, only supportive therapy such as physiotherapy to maintain and improve muscle power, the use of splints to prevent deformities from progressing and mobility aids for patients with advanced disease. 

He said CMT progresses slowly over a period from several years to decades, leading to the development of motor disability of varying severity, but is not considered a fatal disease.

“However, CMT with a recessive mode of inheritance has an earlier age of onset and is usually associated with a more severe disease phenotype (characteristic). These patients may develop weakness of the respiratory muscles,” he said.

“There are several ongoing research studies exploring different treatment mechanisms for the various subtypes of CMT. Gene therapy approaches are the most promising. They include gene replacement, gene silencing and gene editing. These measures have proven to be effective in other neuromuscular disorders and hopefully should be effective in CMT soon,” Dr Vijayan added.

Despite CMT being an inherited disorder, it did not manifest in Mr Humphries when he was younger. “I had a very normal life growing up. I was active in school. I attended taekwondo lessons weekly and swam for St Gabriel’s Secondary School. I went through national service,” he said.

He said it took him a long time to realise that he needed to learn how to live with disability and not just focus on the illness.

He added: “I endured physical pain perpetually, and I lost a lot of strength. I got tired easily because of the disease.”

To make matters worse, his debts mounted when he lost his job after being diagnosed, and this took a toll on his marriage. He and his second wife divorced in 2020, shortly after his diagnosis.

Mr Humphries felt that his world was falling apart.

Mr Humphries said it took him a long time to realise that he needed to learn how to live with disability and not just focus on the illness. PHOTO: COURTESY OF WARREN SHELDON HUMPHRIES

“I was not coping well. Mentally it was worsening, as everything physical was slowly crumbling. CMT affected my employment opportunities, my finances and my daily living.

“The greatest impact was my declining mental health, which affected my marriage, my relationship with my family and friends,” he said.

He also faced prejudices at work.

“The biggest (prejudice) was that while I had a composite of disabilities, the assumption was that I was not capable or that my cognitive development was affected, even when undertaking the simplest of duties,” he said, adding that one day, he contemplated ending it all.

But a phone call from a childhood friend going through stage four breast cancer came a day later and helped him turn things around.

“She said something had told her to call, just as I was going to do something foolish. Our conversation that day was brutally honest, yet there was empathy coming from her, someone living on borrowed time,” Mr Humphries said.

“It was after that talk that I managed to step away from the ledge. I was determined to overcome this lowest point in my life.”

He signed up for numerous training courses to acquire different skills, such as market research and data analytics, branding and digital marketing, and communication and engagement.

Today, Mr Humphries is one of the first people with disabilities to be a docent, or guide, with the Enabling Village in Bukit Merah and Sentosa’s Wheel-Venture Accessibility Tour.

He spends time in hospital for dialysis and rehabilitation after a leg amputation in 2024 because of diabetes, yet he said: “Interestingly, my disease has fortified me, compelling me to demonstrate that I can emerge stronger from adversity... I am much better prepared this time and I need to thank my friend who never gave up on me.”