SINGAPORE \u2013 Her rare genetic condition did not just shortchange teenager Jessica Quek\u2019s brain of the two primary chemicals responsible for joy and motivation; it also hijacked her muscle tone.<\/p>\n
Yet, the 18-year-old electronics engineering student from ITE College West is not letting it get her down.<\/p>\n
In fact, Jessica went against the tide by competing in the annual ITE Inter-College Swimming Meet in 2025 and 2026, taking home a bronze medal at each meet.<\/p>\n
\u201cThe first was for the 50m butterfly sprint in 2025 and the one this year was for the 400m breaststroke,\u201d she told The Straits Times.<\/p>\n
Her doctor was pleasantly surprised at her \u201cremarkable accomplishment\u201d.<\/p>\n Jessica competed in the 50m butterfly event at the inter-school swimming meet in 2025 and won a bronze medal.<\/p>\n ST PHOTO: LIM YAOHUI<\/p>\n<\/figcaption><\/figure>\n \u201cKnowing that Jessica competed in an inter-school swimming meet is a massive testament to early intervention, comprehensive medical care and her own incredible personal resilience,\u201d said her doctor, Mildrid Yeo, a consultant geneticist from the department of genomic medicine at the KK Women\u2019s and Children\u2019s Hospital (KKH).<\/p>\n Jessica was diagnosed with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, a rare inherited metabolic disorder that results in low muscle tone and impairs the production of serotonin and dopamine in her brain, during newborn screening at KKH.<\/p>\n All newborns at the hospital are screened for metabolic and heritable diseases under the National Expanded Newborn Screening programme<\/span><\/a>, a preventive measure to detect health problems before symptoms appear.<\/p>\n The procedure \u2013 which is not legally mandated \u2013 involves pricking a baby\u2019s heels to collect a blood sample between 24 hours and 72 hours after birth.<\/p>\n Yeo said PTPS deficiency occurs when the body cannot produce enough of a \u201cvital helper molecule\u201d called BH4, which is needed by the brain to produce its key chemical messengers.<\/p>\n \u201cWithout adequate BH4, three things go wrong at once: an amino acid found in proteins called phenylalanine builds up in the blood and brain; dopamine, the chemical that controls mood and movement, falls short, causing stiffness and motor delays and involuntary tremors similar to those seen in Parkinson\u2019s disease; and serotonin levels drop.<\/p>\n \u201cSerotonin governs mood, sleep and emotional well-being, so low levels can lead to behavioural and cognitive difficulties,\u201d the geneticist said.<\/p>\n \u201cIn short, it simultaneously starves the brain of two neurotransmitters, which is what makes it so serious if left untreated.\u201d<\/p>\n The condition is \u201cultra-rare\u201d, affecting approximately one in a million people worldwide, though its prevalence varies significantly by ethnicity and region.<\/p>\n Yeo said the condition is noticeably more common in Asian populations than in Caucasian populations. Currently, there are only three known cases in Singapore, including Jessica.<\/p>\n Jessica with KKH consultant geneticist Mildrid Yeo, who manages the teenager\u2019s condition. PTPS deficiency affects the body\u2019s production of BH4, a molecule needed to make key brain chemicals.<\/p>\n ST PHOTO: LIM YAOHUI<\/p>\n<\/figcaption><\/figure>\n Due to her BH4 deficiency, Jessica\u2019s newborn screening detected an excessive amount of phenylalanine, an essential amino acid that is usually found in foods such as meat, fish, eggs, dairy and beans.<\/p>\n Doctors were able to treat her early. Left untreated, the condition could have left Jessica intellectually disabled, with severe developmental delays, and caused seizures.<\/p>\n \u201cDelayed treatment could also result in dystonia, a neurological movement disorder causing muscles to contract involuntarily, leading to twisting movements or abnormal postures,\u201d Yeo said.<\/p>\n \u201cThere is no cure for PTPS deficiency, and Jessica\u2019s treatment generally focuses on reducing high levels of phenylalanine and replacing dopamine and serotonin,\u201d she added.<\/p>\n Her low levels of dopamine and serotonin also contributed to her disrupted sleep patterns.<\/p>\n Jessica told ST: \u201cI often fell asleep in class in primary school, especially during Chinese class. My teachers were told of my condition, so there was no issue, nor was I scolded.\u201d<\/p>\n Despite starting medication early, Jessica developed seizures when she turned 10.<\/p>\n She was put on synthetic BH4 to help lower her blood phenylalanine levels. The medication acts as a cofactor, or helper molecule, for multiple enzymes in the body, including the enzyme in the liver responsible for processing phenylalanine.<\/p>\n Yeo said: \u201cBut synthetic BH4 alone cannot fix Jessica\u2019s neurotransmitter deficits in the brain. To restore her dopamine levels, she is prescribed levodopa; and for serotonin, she is given 5-hydroxytryptophan to allow the brain to successfully manufacture serotonin.\u201d \u200e<\/p>\n Jessica takes more than 10 pills a day to manage her symptoms, but remains upbeat and encourages others to accept their flaws and not be discouraged by the judgment of those around them.<\/p>\n ST PHOTO: LIM YAOHUI<\/p>\n<\/figcaption><\/figure>\n Jessica\u2019s medication costs thousands of dollars a month and the expense is lifelong, with her medical bill increasing as she grows older.<\/p>\n \u201cWe are not rich. My father is a mechanic and my mother a swimming coach,\u201d Jessica said.<\/p>\n The family is financially supported by the Rare Disease Fund, which covers a large portion of her treatment costs.<\/p>\n Jessica, who found out about her condition only when she was 13, added: \u201cI need to take six pills and capsules every morning, two in the afternoon and three at night just to keep my symptoms at bay.\u201d<\/p>\n And kept it at bay the medications did. The seizures, which started when she was 10, went away in 2023.<\/p>\n Despite her low muscle tone, Jessica continues to swim competitively, some days under her mother\u2019s watchful eye.<\/p>\n She wants to graduate and work as an engineer and \u201cperhaps teach coding in a robotics school one day\u201d.<\/p>\n Despite her condition and the bullying she experienced in primary and secondary school while growing up, Jessica continues to have a happy outlook on life.<\/p>\n \u201cWe should accept our flaws, even when others look down at us for them. Never be discouraged,\u201d she said.<\/p>\n<\/div>\n SINGAPORE \u2013 Her rare genetic condition did not just shortchange teenager Jessica Quek\u2019s brain of the two primary chemicals responsible for joy and motivation; it…<\/p>\n","protected":false},"author":1,"featured_media":95279,"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-95278","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\/95278","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=95278"}],"version-history":[{"count":0,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/95278\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/media\/95279"}],"wp:attachment":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=95278"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=95278"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=95278"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}<\/picture><\/div>
Early detection gives her a better chance at a normal life<\/h2>\n
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