Everyone thinks their child is 1-in-a-million.
Well, our little Nathanael was actually 1
in 15.4 million. He was one of less than 500 reported cases of
Pallister-Killian Syndrome in the WORLD.
December 4th is recognized as PKS
Awareness Day because PKS results from having 4 copies of the short arm of
chromosome 12.
In an effort to raise awareness,
I’ll be sharing some facts on PKS until December 4th! ❤️🖤❤️🖤
Fact #1: Pallister Killian
Syndrome is a genetic condition that occurs during
conception, it is neither hereditary nor environmental. The malformation is
that chromosome 12 has 4 short arms as opposed to the typical 2. It is a mosaic
syndrome which means that not all cells that contain chromosome 12 will contain
the malformation. The severity of the syndrome is determined by how many of a
child’s cells contain the extra genetic material.
We believe in Nathanael’s case
that he was afflicted more globally than some, though there is great variation from
one PKS child to another. In Australia, there are less than 20 PKS children,
and our thoughts are always with a particular family who has a child the same
age as Nathanael would have been.
I work in a school and Nathanael
would have been Kindergarten intake next year. So I will view the 2019 ‘kindies’
very specially, keeping his memory alive as a work with them.
I’m thankful also for the
wonderful support, fellowship and care we have received from PKS-Kids worldwide
and for the community we have enjoyed through the PKS Foundation of Australia. It is an honour
to know these people and to serve them too.
On December 4th, please spare a
thought for PKS kids and their families.
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