SINGAPORE \u2013 During Tizane Woo\u2019s 20-week prenatal scan, her doctor noticed something was not right with her child, Teyden Hamilton Ho.<\/p>\n
\u201cThey told us that his head was smaller than average. The circumference of his hindbrain (cerebellum) was too small,\u201d said the 26-year-old housewife.<\/p>\n
\u201cA week after I went for amniocentesis in the 22nd week of my pregnancy, I was told that Teyden has an additional chromosome, which was inherited from me.\u201d<\/p>\n
She and her husband were asked if they wanted to abort the child because of all the issues he could face.<\/p>\n
\u201cBut not once did we think of doing so because he was ours,\u201d Woo said.<\/p>\n
When Teyden was 15 months old, he was diagnosed with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome after blood samples from all three of them were sent to the US for testing.<\/p>\n
The condition, named after the four doctors and researchers who identified it in 2016, is a rare hereditary disease caused by a single altered gene on a non-sex chromosome.<\/p>\n
Broadly speaking, it affects brain development.<\/p>\n
There is no figure available for how many people in the world have the condition, as it was only recently recognised, said geneticist Jeannette Goh, a consultant in the Department of Genomic Medicine at KK Women\u2019s and Children\u2019s Hospital (KKH).<\/p>\n
She said it is believed that there are about 400 people who have the disease.<\/p>\n
Woo\u2019s obstetrician and gynaecologist Tony Tan had referred her to Goh.<\/p>\n
\u201cThe symptoms of ZTTK syndrome are related to what the SON gene does. The gene acts like an editor for other genes and helps the body read other gene instructions, and many of these other genes are related to brain development,\u201d said Goh.<\/p>\n
\u201cWhen the instructions get disrupted, we do get issues in intellectual and cognitive functions. Together with that, we see many developmental delays, such as in their motor skills, breathing and speech. That is why we put (patients) into learning intervention programmes early.\u201d<\/p>\n
Goh said the possibility of the condition being missed, misdiagnosed or even undiagnosed is high because ZTTK syndrome is very rare and its symptoms overlap with other neurological conditions.<\/p>\n
Genetic counsellor Priscella Chia from KKH, who also attends to Teyden, said it is \u201centirely normal for the first few tests to come back inconclusive\u201d.<\/p>\n
\u201cAbout 80 per cent of rare diseases present with vague, overlapping symptoms. Standard medical tests (like basic blood work or imaging) usually rule out common conditions rather than pinpoint a rare one,\u201d she added.<\/p>\n
Woo said it was an emotional roller coaster for her and her husband when Teyden was diagnosed.<\/p>\n
\u201cI felt sad that I was the one who gave him his condition. At the same time, we were happy that we finally had a diagnosis for Teyden\u2019s condition. We also had a lot of help from his physiotherapists, who have taught us how to manage him,\u201d she said.<\/p>\n
\u201cIt helps also that Teyden is a super happy child, and it makes it easy for us to take care of him.\u201d<\/p>\n
Teyden now attends physiotherapy twice a week to work on his posture, trunk control and overall motor function at the Wings Therapy and Learning Centre in Singapore.<\/p>\n
\u201cWe started intensive sessions in June, and it helped him a lot. Now he is able to sit up on his own for a period of time, which he could not do before. He was really floppy, and his head control was very weak,\u201d Woo said.<\/p>\n
Teyden also tends to shake his arms and move his head to hit the back of his high chair, a known neurological manifestation of ZTTK syndrome associated with several central nervous system anomalies.<\/p>\n
\u201cHe cries when we stop him. To prevent him from hurting himself, we have put a cushion behind him. (But) he seems to know it is soft, so he goes at it harder. He is cheeky that way,\u201d Woo said.<\/p>\n Teyden Hamilton Ho with (from left) genetic counsellor Priscella Chia, father Ho Jun Han, mother Tizane Woo and geneticist Jeannette Goh.<\/p>\n ST PHOTO: LIM YAOHUI<\/p>\n<\/figcaption><\/figure>\n At the end of May, Teyden started having seizures, a symptom that affects between 50 per cent and 55 per cent of ZTTK syndrome patients.<\/p>\n \u201cWe did not know they were seizures. He was still on the BiPAP. He was still asleep, jerking. There was foam coming from his mouth, and he was slowly turning blue. We called the ambulance,\u201d Woo said.<\/p>\n A BiPAP machine is a non-invasive ventilator used to help with breathing by delivering pressurised air through a mask: higher pressure for inhalation and lower pressure for exhalation.<\/p>\n When Teyden had another seizure weeks later, his parents were ready with the video camera, and they managed to capture the 11-minute incident and report it to the attending doctor at the emergency room in KKH.<\/p>\n Teyden is on anti-seizure medication, but he still experienced another episode \u2013 this time brought on by fever and Covid-19. This meant he could have faced a significantly higher risk of severe symptoms or respiratory complications.<\/p>\n \u201cIt was the scariest point of the two years of his life,\u201d his mother said.<\/p>\n Teyden with family pets Momo (left) and Ming Ming.<\/p>\n PHOTO: COURTESY OF TIZANE WOO<\/p>\n<\/figcaption><\/figure>\n Having recovered, Teyden is back to playing with the two family pets and attending classes at Fei Yue EIPIC Centre in Upper Thomson Road, which offers an early intervention programme for young children with developmental and special needs.<\/p>\n \u201cHe is the youngest there, and the loudest in class,\u201d Woo said, laughing.<\/p>\n Teyden\u2019s father Ho Jun Han, 27, a data centre operator, said the boy likes to be involved in conversations and babbles a lot, even though he cannot form words.<\/p>\n They have joined a Facebook support group that is based in the US.<\/p>\n \u201cApart from Teyden, there is no one else in Singapore with his condition. It was here on this Facebook page that we got to see other kids with ZTTK, contact parents dealing with the condition and perhaps provide support for each other,\u201d Woo said.<\/p>\n \u201cWe do not know what the future holds for him because this condition is super rare… We are managing and trying to stay as positive as much as possible.\u201d<\/p>\n<\/div>\n SINGAPORE \u2013 During Tizane Woo\u2019s 20-week prenatal scan, her doctor noticed something was not right with her child, Teyden Hamilton Ho. \u201cThey told us that…<\/p>\n","protected":false},"author":1,"featured_media":86216,"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-86215","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\/86215","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=86215"}],"version-history":[{"count":0,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/posts\/86215\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=\/wp\/v2\/media\/86216"}],"wp:attachment":[{"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=86215"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=86215"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sgbuzz.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=86215"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}<\/picture><\/div>
The seizures start<\/h2>\n
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