We had the FISH Test done a week earlier, and the results came back with a positive diagnosis. Baby Iman was diagnosed with Williams Syndrome (WS).
Kami tenang apabila doktor menceritakan lebih terperinci mengenai WS. Berbanding 3 bulan lepas, apabila dia bertanya pada kami ’Pernah dengar William Syndrome?’. Itu soalan pertama dia tanya bila dia tengok Iman, sebelum dia buat echo dan ECG. Seumur hidup saya itu lah kali pertama saya dengan pasal WS. Tangan saya menggeletar bila saya goggle pasal WS di hp semasa menunggu nurse panggil untuk membuat pembayaran.
‘Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.
WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture. Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.
But there are major struggles as well. Many babies have life-threatening cardiovascular problems. Children with WS need costly and ongoing medical care, and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding’
Common features of Williams syndrome include:
Characteristic facial appearance
Heart and blood vessel problems
Hypercalcemia (elevated blood calcium levels)
Low birth-weight / slow weight gain
Irritability (colic during infancy)
Hyperacusis (sensitive hearing)
Overly friendly (excessively social) personality
Developmental delay, learning disabilities and attention deficit disorder'
Kami bersyukur kerana dapat tahu lebih awal berbanding dengan sesetengah parents yang mempunyai anak WS. Kami bersyukur walau apa pun yang berlaku, kami percaya setiap anak itu ada rezekinya. Kami bersyukur kerana Allah menganugerahkan kami seorang anak yang cukup istimewa. Kami besyukur kerana Allah memberi amanah serta memilih kami untuk menjadi ibu dan ayah kepada Iman, menjaga Iman, memberi kasih sayang sepenuhnya kepada Iman.
Melalui Williams Syndrome Foundation, kami dapat berkenalan dengan parents lain yang mempunyai anak-anak WS dari serata dunia. Sebagai ahli baru dalam ‘Williams Syndrome Families’, ada banyak perkara yang saya perlu pelajari dari mereka.
‘I pray with all the parents of children with WS, please spread the word. There is still so much unknown about WS. Many doctors in my area had never heard of it. To some children, because of the heart defects and other defects caused from the lack of elastin, it is life threatening. So tell people about it. Educate doctors and nursing staff so no parent has to find out when it's too late’
- Nea Lea’s mother