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Straits Times
24-05-2025
- Health
- Straits Times
Unspoken words, unsteady gait: Living with a rare brain disorder that affects mostly girls
Abby's parents, Rae and Daniel, had no idea anything was amiss until she started to regress after turning 18 months old. ST PHOTO: BRIAN TEO Medical Mysteries Unspoken words, unsteady gait: Living with a rare brain disorder that affects mostly girls Medical Mysteries is a series that spotlights rare diseases or unusual conditions. SINGAPORE – Four-year-old Abby was born healthy and met all her developmental milestones in the first 18 months of her life. Her parents Rae, 41, and Daniel, 55 – who requested that The Straits Times not use their family name – had no idea anything was amiss until she started to regress after turning 18 months old. Abby's speech – from happy infant babbling to saying one or two words – suddenly halted in its development. Her movement and balance also regressed. Her parents tried hydrotherapy to encourage walking. 'We taught her how to walk in the pool, as we were told the water buoyancy would help her,' said Rae, who is an education consultant. But just two weeks after she started walking, Abby lost the ability to do so. 'It worried us. At the same time, the nursery school where we placed her suddenly told us that it could not support a child with special needs. We decided to send her for tests,' Rae said. Eventually, at three years and six months old, Abby was diagnosed with Rett syndrome, a rare brain disorder that affects mostly girls. 'We took blood for a DNA test at the KK Women's and Children's Hospital (KKH), and it was only last August that the hospital confirmed Abby has Rett syndrome,' said Rae. Before that, doctors had thought Abby was autistic. 'We did not know about Rett syndrome then, and we thought that she was autistic . Yet she was very sociable – she still is – and she loves people. Those are not (commonly perceived) traits of autism,' said Rae. Rett syndrome is thought to affect about one in 15,000 to one in 10,000 female babies worldwide, but the exact prevalence is not known. 'Many patients with Rett syndrome may be undiagnosed due to lack of recognition of symptoms and limited access to genetic testing,' said Associate Professor Saumya Jamuar, a senior consultant with the genetics service at KKH. Abby's parents tried hydrotherapy to encourage walking. ST PHOTO: BRIAN TEO Prof Jamuar noted that there have only been 10 cases diagnosed at KKH so far, with one or two patients identified every other year. But he cautioned that there could be others who are still undiagnosed in Singapore. He said the condition is caused by a genetic change in a gene called MECP2. The MECP2 gene provides the instructions for making the MeCP2 protein, which is important for brain development. Rett syndrome usually shows up in children between six months and two years of age. Affected children develop normally at first, but then begin to lose the skills they have already learnt, such as talking, walking or using their hands, said Prof Jamuar. Some may have seizures, heart issues or breathing difficulties. They could also have sleep disturbances and scoliosis, which is a sideways curvature of the spine. A hallmark of Rett syndrome is near-constant repetitive hand movements or hand wringing – something that Abby does. 'It is only when these symptoms appear that testing is considered. Even then, making a diagnosis requires a specific genetic test,' Prof Jamuar said. 'As the brain becomes more complex, it increasingly depends on the MeCP2 protein to support learning and retaining skills. The protein does not work in children with Rett syndrome and the brain cannot keep up with normal development... leading to loss of skills and other symptoms,' he said, adding that severity varies from child to child. Only some patients experience intellectual disability, and the extent can differ, he said. There is currently no way to reverse Rett syndrome, and treatment focuses on managing its symptoms and supporting the individual. A diagnosis marks the beginning of a coordinated, lifelong care plan involving multiple specialists and support services, said Prof Jamuar. 'The goals are to manage symptoms, support development, improve quality of life and prevent complications, to help each child reach her best possible quality of life,' he added. 'With appropriate care, many people with Rett syndrome live well into adulthood – some into their 40s, 50s, or longer.' Rae went online to search for a local community of patients and found the Facebook and Instagram accounts of Rett Syndrome Singapore, set up by an expatriate mother with a daughter who has the condition. 'I messaged her and became one of the very few members of the community,' she said. Rae also discovered that the condition is grouped under the Rare Disorder Society, a non-profit organisation initiated in 2011 by parents of children with lysosomal storage disorder, a rare genetic condition that causes a build-up of toxic materials in body cells. Abby now attends early intervention school at the Rainbow Centre and receives occupational therapy, physical therapy, speech therapy and music therapy. Education consultants Rae, 41, and Daniel, 55, using a photo chart to help their four-year-old daughter Abby express herself. ST PHOTO: BRIAN TEO Her movement 'is not very stable' and she tends to fall and hurt herself, according to Daniel, who is also an education consultant. Trips to the emergency department at KKH are 'becoming a regular thing', he said. 'We also hired a physiotherapist and an occupational therapist to come to the house every week to help stabilise her movement and gait. She swims and rides her balance bicycle. The occupational therapist teaches her how to communicate with us. She uses her eyes and other gestures, which we learnt from her too,' he said. Abby also suffers from seizures and is on medication to manage them. Born in Hong Kong, Abby moved to Singapore with her parents when she was three months old. Despite her limited verbal ability, she is exposed to a multilingual environment at home. Her parents and grandparents speak to her in English, Mandarin and Cantonese. 'We also encourage our helpers to speak to her in Bahasa Indonesia', said Rae. Daniel added: 'Abby is able to understand, but she just cannot reciprocate.' The couple also have a one-year-old daughter, Emma, who was conceived before Abby's diagnosis. As Rett syndrome affects mostly girls, there were initial concerns that Emma might have the condition. 'When Emma came along, we were of course worried. But when we saw her using her fingers to point at things – something that Abby could not do – we heaved a huge sigh of relief,' Rae said. Prof Jamuar said although Rett syndrome is a genetic disorder, the majority of cases are not inherited, and the risk to Emma was low, at 'approximately 1 per cent to 2 per cent'. Meanwhile, research continues into future cures or gene-based therapies, with some promising results from animal studies. In these studies, symptoms were partially reversed by reintroducing the normal MECP2 protein into the brains of mice, giving hope for potential treatment. For now, the only word Abby can articulate clearly is 'iPad'. 'She repeats it when she is adamant. Sometimes I don't know whether to laugh or cry, but we are taking this a day at a time,' said Rae. Join ST's WhatsApp Channel and get the latest news and must-reads.
Straits Times
10-05-2025
- Health
- Straits Times
Pompe disease took this musician's breath away
Mr Yeo Wee Chong, 36, plays the bass clarinet in a concert band but his late onset of Pompe disease had affected his breathing and hence his performance. PHOTO: RARE DISEASE FUND Medical Mysteries Pompe disease took this musician's breath away Medical Mysteries is a series that spotlights rare diseases or unusual conditions. SINGAPORE – Mr Yeo Wee Chong, 36, used to play the bass clarinet full-time in a concert band. His career as a musician was abruptly cut short, however, when he was diagnosed with Pompe disease at the age of 29. Pompe disease is a rare genetic disorder that can result in respiratory failure, a significant complication due to progressive respiratory muscle weakness, especially affecting the diaphragm. 'I became extremely drowsy and unable to focus properly. On the advice of my family doctor, I went to the emergency department. I was admitted to the ICU (intensive care unit) and subsequently intubated while the doctors figured out the root cause of my feeling poorly,' said Mr Yeo , who is currently between jobs. It took doctors another two to three weeks before they diagnosed his condition. Dr Yong Ming Hui, a consultant from the Department of Neurology at the National Neuroscience Institute at the Singapore General Hospital (SGH), told The Straits Times that affected patients lack the acid alpha-glucosidase (GAA) enzyme needed to break down glycogen. Glucose, the fuel used by the body's cells for energy, is normally stored as glycogen in the liver and muscles. In Pompe disease, glycogen builds up in the cells of certain organs and muscles, impairing their normal function. This leads to progressive muscle weakness, mobility problems and affected breathing. Mr Yeo was told he could not continue playing the bass clarinet because of the weakness of his diaphragm. 'This was a particular sore point for me as I was active in performing with bandmates and that was a big part of my social life and identity,' he said. 'But I accepted and recognised the situation, and just try to do my best with what I have on hand,' he added. Reported incidence of Pompe disease is around 1 in 40,000, with some literature citing it as 1 in 17,000 to 37,000 in Asia. Doctors said when Pompe disease starts at infancy, it usually progresses faster and with greater severity, compared to later onset when the patient is an adult. '(Infant patients) develop severe symptoms in the first few months of life. They classically have generalised weakness and loss of muscle tone, feeding difficulties, and continue to develop respiratory failure and require ventilator support. Important organs are also affected, leading to enlarged heart and liver,' Dr Yong said. Dr Yong Ming Hui (right), a consultant in neurology at the National Neuroscience Institute, was instrumental in diagnosing and treating Mr Yeo Wee Chong. PHOTO: RARE DISEASE FUND According to medical literature, some cases even develop enlarged tongues. 'If left untreated, the disease is fatal by aged one to two years,' she added. Adult patients with Pompe disease, on the other hand, have a less severe form that progresses gradually. 'The ages at which the symptoms start can even be when they are in their 60s, and the severity depends on the degree of the deficiency (of the enzymes). These symptoms can include difficulty in walking, the inability to perform sit-ups, exercise intolerance and fatigue, shortness of breath, and sometimes difficulty in swallowing,' Dr Yong said. Such adults generally do not develop heart failure or liver enlargement, but abnormalities of blood vessels in the brain have been diagnosed in a small number of patients, she added. On rare occasion, the latter can lead to a stroke. The life expectancy for adult patients with late onset Pompe disease varies with age of symptom onset and disease severity but it decreases in patients with respiratory failure. To diagnose the condition, Dr Yong said once when Pompe disease is suspected in a patient, a dried blood spot (DBS) test is performed to confirm abnormally low GAA enzyme activity in the patient. Then the diagnosis is confirmed with genetic testing. Adults get a diagnostic test called electromyography, where a small needle electrode checks muscle activity to confirm if there's a muscle damage. Sometimes, a muscle biopsy is used to diagnose Pompe disease, Dr Yong added. Mr Yeo's condition is currently managed by a team of doctors, nurses and allied health professionals from SGH including a team of neurology pharmacists who 'regularly communicate with me if there are any changes to my medication as well as preparing my bi-weekly infusions'. As his breathing was affected by the condition, he uses a bilevel positive airway pressure (Bi-PAP) machine at night, in case his airway gets blocked or he cannot breathe deeply when he sleeps. The Bi-PAP device pushes air into his lungs, to keep his airways open. He said the initial weeks in the ICU were the hardest. His condition had to improve so he could get off the ventilator. 'A tracheostomy would have been need if I was unable to do so – that was the most stressful part,' said Mr Yeo. Mr Yeo Wee Chong (second from left) with the multidisciplinary team from SGH that is managing his condition (from left) Dr Leow Leong Chai, a senior consultant from the Department of Respiratory and Critical Care Medicine, Dr Yong Ming Hui, a consultant of neurology with the National Neuroscience Institute and Ms Wong Pei Shieen, a senior principal clinical pharmacist. PHOTO: RARE DISEASE FUND He needs to be on medication and enzyme replacement therapy for life, which costs $55,000 a month. 'The added financial burden of such expensive treatment is an ongoing source of stress,' he said. 'Thankfully, the Rare Disease Fund now covers the costs of most of my medication. This has been an immense relief, as I can now focus on managing my health and maintaining my quality of life, without the burden of medical expenses that would have otherwise been beyond my means,' he said. RDF, a charity fund that is managed by the KKH Health Fund (KKHHF) and supported by the Ministry of Health, provides long-term financial support for patients with rare diseases and who require treatments involving high cost medicines. KKH and SGH are both part of the Singhealth group. Receiving RDF's help 'was a big milestone and is a big source of encouragement for myself', Mr Yeo said. 'As someone living with Pompe disease, managing the condition is already physically and emotionally demanding.' On a brighter note, he had regained enough strength to perform ad-hoc with the band again since 2023. 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