SINGAPORE \u2013 Former nurse Tim (not his real name) could never recall anything from more than two days ago. Neither could he plan anything more than two days ahead.<\/p>\n
This made looking for long-term employment hard, the 33-year-old said.<\/p>\n
Growing up, Tim, who asked not to be identified for fear of being recognised by former healthcare colleagues, met all the normal childhood milestones.<\/p>\n
\u201cWhen I was in school, I had a lot of issues studying… I experienced \u2018comprehension disorder\u2019<\/span><\/a>. Whenever I was reading a passage, when I got to the second sentence, I would have forgotten the first.<\/p>\n \u201cStudying was almost impossible, so I devised my own methods to remember. It worked, but I was retained in the first year at JC (junior college) because my study methods did not work there,\u201d he said.<\/p>\n Secondary school was difficult for Tim. He was bullied throughout and struggled to recall his lessons.<\/p>\n \u201cAt first, it was just frustrating. Later, it was more of a sinking feeling that something was not right,\u201d he added.<\/p>\n Tim also experienced physical pain.<\/p>\n \u201cI had sharp pain in my sides when I was in secondary school and in JC. (The episodes) were fleeting but excruciating, and I would double up in pain.<\/p>\n \u201cMy knees cut out when I was at university and I would trip. It was the same feeling as when you sit down for too long and your legs go numb,\u201d he said, adding that there was one morning when he could not feel his left leg from the hip down.<\/p>\n He consulted doctors \u2013 from general practitioners to specialists \u2013 but none of them could tell him what his condition was.<\/p>\n Tim has an extra X chromosome, a genetic variation that causes Klinefelter syndrome. The condition is hard to diagnose because its symptoms are often very subtle.<\/p>\n Tim participating in the vocational rehabilitation phase of the NNI Integrated Cognitive Engagement programme and volunteering at Greenhood, a rooftop farm in Hougang. Behind him is Sitizalihah Arsat, senior associate well-being coordinator at NNI.<\/p>\n ST PHOTO: GIN TAY<\/p>\n<\/figcaption><\/figure>\n Like Tim, men and women with genetic conditions that are practically unheard of often feel that it is impossible to find a cure or even relief from their symptoms.<\/p>\n There are about 3,000 people in Singapore living with such conditions.<\/p>\n While some had their conditions diagnosed as babies, others were diagnosed only in childhood or adulthood. So far, 7,600 genetic diseases have been identified,<\/span><\/a> and more are being discovered every year.<\/p>\n Genetic disorders are usually caused by differences or changes in a person\u2019s genes. While many genetic conditions are inherited from parents who are affected or are carriers, some can arise in children even when neither parent has the condition.<\/p>\n Frustrated, Tim decided to carry out his own research. As a nursing student, he had access to medical journals, so he scoured the literature and databases in search of a name for his condition.<\/p>\n \u201cThe only one with the same symptoms I have was a genetic condition,\u201d he said.<\/p>\n \u201cI went to a private hospital and insisted on a genetic blood test to get a diagnosis and was found to have that extra X chromosome. I was in my 20s when I finally found out what I have.\u201d<\/p>\n According to geneticist Angeline Lai, Klinefelter syndrome is a genetic condition affecting only males, in which there is an extra X chromosome, leading to an XXY chromosome pattern.<\/p>\n \u201cUsually, females have two X chromosomes, while males have one X and one Y chromosome.<\/p>\n \u201cIn individuals with Klinefelter syndrome, there is an extra X chromosome and thus, 47 chromosomes in total (instead of 46),\u201d said Lai, a senior consultant with the Department of Genomic Medicine at KK Women\u2019s and Children\u2019s Hospital (KKH).<\/p>\n \u201cWomen who are above 35 when they become pregnant have a slightly higher chance of having a child with chromosomal anomalies, including Klinefelter syndrome.\u201d<\/p>\n She added that while the condition is estimated to occur in about one in 1,000 newborn males, between 70 per cent and 80 per cent remain undiagnosed throughout their lifetime.<\/p>\n The syndrome is usually diagnosed by a genetic blood test that identifies the karyotype, which is the number, size and shape of the chromosomes.<\/p>\n The genetic blood test can be carried out during prenatal screening, at puberty, or when married couples have difficulty conceiving.<\/p>\n Klinefelter syndrome can be an \u201cincidental finding\u201d during non-invasive prenatal testing for chromosomal conditions such as Down syndrome.<\/p>\n It is tested for especially when a boy\u2019s physical growth is slower, including incomplete development of typical signs of puberty, such as body hair, a deeper voice or enlargement of the testes.<\/p>\n In some boys with the syndrome, breast tissue may develop during puberty.<\/p>\n Lai said: \u201cApart from these, other findings such as learning difficulties tend to be less specific.\u201d<\/p>\n Tim is tall, a characteristic of the condition, but he did not develop breasts.<\/p>\n He felt, however, that his increasing learning difficulties, together with his physical symptoms, hampered his work as a nurse.<\/p>\n \u201cI was slowly losing my capacity to learn, making it difficult to ramp up my capability to multitask. My eyes were superimposing words onto the containers of different medicine, and I was also experiencing involuntary tremors, making it dangerous for me to remain in my nursing position,\u201d he said.<\/p>\n When his condition worsened, Tim suspected that he had multiple sclerosis (MS), a condition where the body\u2019s immune system attacks the protective covering of neurons. So he went to the polyclinic for a referral to the National Neuroscience Institute (NNI).<\/p>\n Despite having white matter lesions in his brain, which can indicate damage to nerve fibres or their protective fatty covering, he tested negative for MS.<\/p>\n During a consultation with the neurologist, Tim raised the challenges he faced in getting a job and was referred to the NNI Integrated Cognitive Engagement programme.<\/p>\n He attended two rounds of its vocational rehabilitation phase, which offered guided weekly volunteering sessions in the community over eight weeks.<\/p>\n Tim first worked at Punggol Library, where he tidied and shelved books, followed by another eight weeks at Greenhood, a hydroponic and aeroponic rooftop farm where he helped plant, tend and harvest leafy vegetables.<\/p>\n Sitizalihah Arsat, a senior associate well-being coordinator at NNI who runs the programme with a team of associate psychologists, said she saw the difference that vocational rehabilitation had made for Tim.<\/p>\n \u201cHis confidence has grown, and he recently told me that he would like more permanent work. I approached a farming company and shared Tim\u2019s experience. I am so happy that he now has a part-time job, and I am looking out for other potential part-time positions to help him fill his week,\u201d she said.<\/p>\n<\/div>\n SINGAPORE \u2013 Former nurse Tim (not his real name) could never recall anything from more than two days ago. Neither could he plan anything more…<\/p>\n","protected":false},"author":1,"featured_media":80611,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"fifu_image_url":"","fifu_image_alt":"","footnotes":""},"categories":[2611],"tags":[],"class_list":["post-80610","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-buzz-headlines","wpcat-2611-id"],"brizy_media":[],"_links":{"self":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/80610","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=80610"}],"version-history":[{"count":0,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/80610\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/media\/80611"}],"wp:attachment":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=80610"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=80610"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=80610"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}<\/picture><\/div>
Most cases go undiagnosed<\/h2>\n
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