SINGAPORE \u2013 Ms Poonam Choudhary was admitted to National University Hospital (NUH) in July 2025 following \u201ca complete loss of physical function and troubling neurological deficits\u201d, according to what the doctors told her.<\/p>\n
\u201cI had a fever, my vision was blurry, and I was seeing double. I could not speak or string together words to make a proper sentence,\u201d said the 43-year-old home baker and mother of two boys.<\/p>\n
\u201cWhenever I tried to use my phone, the numbers were all jumbled. I also had urinary incontinence and I felt like my life was coming to an end,\u201d she added.<\/p>\n
Her 13-year-old son, secondary school student Aarav Choudhary, said that when he walked into the ward, he could hardly recognise his mother.<\/p>\n
\u201cWhat she was saying did not make sense. It was a jumble of words. That was not my mother. My mother is a great conversationalist,\u201d he told The Straits Times.<\/p>\n
Ms Poonam\u2019s troubles began in 2018 when she was then 36 years old and a procurement executive for a pharmaceutical company.<\/p>\n
She began experiencing sudden weakness in her legs, causing her to fall often.<\/p>\n
\u201cIt was after a holiday in India. I was falling every other week and had difficulties walking. My vision was also affected. Things around me seemed to be moving even when they were not,\u201d she told ST.<\/p>\n
It was deeply stressful for Ms Poonam, who was juggling a successful career and caring for her family.<\/p>\n
\u201cI sought medical attention at NUH and was hospitalised for seven weeks. The doctors suspected my symptoms were related to vitamin B12 deficiency, and I was subsequently given vitamin B12 injections and they helped,\u201d she said.<\/p>\n
\u201c(Ms Poonam) was diagnosed with spastic paraparesis, where there is abnormal function of the spinal cord. The possible causes include inflammation, infection, tumour, nutrient deficiency, degeneration, or hereditary causes,\u201d said Adjunct Associate Professor Chan Yee Cheun, a senior consultant with the division of neurology in the department of medicine at NUH.<\/p>\n
He recalled that extensive investigations by the doctors excluded inflammation, infection and tumours as the causes.<\/p>\n
\u201cMs Poonam\u2019s vitamin B levels were found to be very low and we believed this was possibly the cause of her spastic paraparesis, so we administered B12 injections,\u201d Prof Chan said.<\/p>\n
Ms Poonam said: \u201cI continued with the weekly vitamin B12 injections and the symptoms eventually went away in six months, allowing me to return\u00a0to\u00a0work in 2019.\u201d<\/p>\n
Unfortunately, she did not keep her follow\u2011up appointments at NUH once her symptoms improved. It was only when her health spiralled downwards that she returned.<\/p>\n
Ms Poonam left her job with the pharmaceutical company in 2020.<\/p>\n
\u201cIt was during the Covid-19 pandemic and I continued to feel unwell. The same symptoms re-emerged and I did not think I was able to meet the physical demands of the job. I had also developed a huge phobia of falling, and it was physically difficult to walk to my office,\u201d she said.<\/p>\n
She was also dealing with issues on the home front, including the deaths of her father and brother.<\/p>\n
After moving house in 2022, Ms Poonam\u2019s symptoms became worse and she ended up hospitalised at NUH for two to three weeks, where \u201cI resumed my vitamin B12 injections\u201d, she said.<\/p>\n
The symptoms once again subsided within six months and, like before, she did not go for her follow-up appointments.<\/p>\n
Then in July 2025, her condition culminated in a complete loss of physical function.<\/p>\n
She was referred to genetic specialists within NUH to evaluate for possible hereditary causes of spastic paraparesis as her neurologists did not want to give up.<\/p>\n
Geneticist Chin Hui-Lin said the battery of tests, ordered by her colleagues from the neurology division, confirmed a physical diagnosis of spastic paraparesis.<\/p>\n
\u201cHowever, they were not able to reveal the specific molecular cause of her condition, so she was referred to us for the possibility of its genetic causes,\u201d said Adjunct Associate Professor Chin, who is with the department of paediatrics at Khoo Teck Puat \u2013 National University Children\u2019s Medical Institute at the hospital. It was after the genetics team reviewed her lab results and biochemistry that the genetic test confirmed Ms Poonam has MTHFR-related autosomal recessive hyperhomocysteinemia.<\/p>\n
This is a rare condition that affects approximately one in 100,000 to one in 200,000 people, and leads to elevated levels of homocysteine, an amino acid in the blood, which cause cardiovascular disease, stroke, blood clots and cognitive decline, including memory loss, confusion and fuzzy thinking or brain fog.<\/p>\n
Prof Chin said this is \u201ca treatable form of inborn error of metabolism that manifests only in adulthood\u201d.<\/p>\n
\u201c(Ms Poonam) was prescribed a medication called betaine last November and we have seen significant improvements in her cognitive function, memory, movement and coordination,\u201d Prof Chin said.<\/p>\n
Today, with the help of her mother, Madam Bimla Shivdas Gohar, 70, Ms Poonam is able to bake cupcakes in her home business to help with the family\u2019s expenses.<\/p>\n
\u201cI am hoping to get a kiosk at the shopping centre near my home so I will be able to sell my baked goods,\u201d she said.<\/p>\n
As for Aarav, he is glad to have his mother back.<\/p>\n
\u201cI felt especially happy the other day when I saw her dancing at home, which she was not able to do when she was very sick,\u201d he said with a proud smile.<\/p>\n
Source: The Straits Times \u00a9 SPH Media Limited. Permission required for reproduction<\/a><\/p>\n