Eshal (Chromosome Translocation 17 & 2)

Chromosome Translocation 17 & 2


Name : Eshal
DOB : 2016
Disorder : Chromosome Translocation 17 & 2


Born in the year 2016, little Eshal faced difficulties. She was unable to crawl or sit well, and her parents’ concern grew. Ms. Izyan and her husband brought her for a medical consultation. With the help and guidance of Prof. Thong, they were referred to Hospital Putrajaya for DNA and chromosome testing. A long and difficult waiting period of 1.5 years eventually brought news of her diagnosis: chromosome translocation 17 & 2.

This diagnosis is so rare that it is even considered rare within the rare disease community, there are so far zero known similar cases of its kind. As well as these chromosome translocations, Eshal has mild cerebral atrophy and hypotonia (low muscle tone), which explains her difficulties to walk, sit, hold things and feed herself. Eshal has also faced communication challenges due to being non-verbal.


Eshal’s condition and diagnosis brought about very unexpected changes to family life. Trips needed to be planned carefully around wheelchair accessibility. Everyday decisions required understanding of Eshal’s needs and comfort and any impact on her. Eshal’s family made sure that as many family activities as possible included Eshal – even if this was in different ways from her siblings. Eshal and her siblings have taken part in many adventures together, and the family’s ethos of inclusivity really supports her adventurous character. She adapts quickly to new surroundings and enjoys life.

Family trips to snorkelling destinations, Thailand, and even Mount Brumo in Indonesia have been adapted so that Eshal can fully enjoy them and take part to the full. While Eshal could not snorkel in the same way as her siblings due to her disabilities, she loved watching them from a fun hammock in the boat and was fully involved in the experience. A tuktuk ride in Thailand was another big highlight from Eshal’s travels and something that the whole family could do. Mountaineering in Indonesia – while it looked different for Eshal than for her siblings who were on foot – was another amazing and unforgettable adventure. Being carried by her family made it possible.

New Experience

Fast forward to the year 2022, six years after Eshal’s diagnosis. Ms. Izyan and her family are now living in the UK. Ms. Izyan is pursuing her studies in Special Education Needs and Inclusion at Queen’s University, Belfast, in Northern Ireland.

Eshal will soon be starting at a special needs school which welcomes all students with disabilities, from many different countries around the world. She is currently awaiting the completion of an educational assessment by the local education authority.

This family hopes for a more special needs kid friendly Malaysia to be made possible by policy makers, to provide equal living standards and learning experiences for all children.

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