When Ellie was four months old, a doctor at the polyclinic where she went for her childhood vaccination shots noticed a white patch on her skin and suspected it was caused by tuberous sclerosis complex (TSC), a genetic disorder that causes tumours to grow in various parts of the body. The doctor referred the infant to the National Skin Centre for an appointment a few weeks later.
An anxious Madam Khor could not wait and took her to her paediatrician at KK Women's and Children's Hospital (KKH). Also suspecting the child had TSC, the paediatrician ordered scans of Ellie's brain, heart, abdomen, kidneys and eyes.
In the meantime, Madam Khor I hit the internet to find out more about the disease.
"It scared us completely," recalled Madam Khor, 39, who is the general manager of a direct sales company.
"There was so much fear, I practically lost my mind for a couple of months. There was no way to know if she would be able to talk or walk." Tumours in the brain can cause epileptic fits and significant cognitive impairment. Half of the patients with TSC are autistic or have learning disorders. One in four has an IQ of below 50 (most people score between 85 and 115).
Aside from the scans, Ellie's blood was sent to the US for genetic testing. The test confirmed that she has TSC, although by then, Madam Khor said they already knew.
Diese Geschichte stammt aus der April 28, 2024-Ausgabe von The Straits Times.
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