This story has been
shared by Angelina’s mum
Angelina is four years old. Her
smile lights up her mummy and daddy’s heart each day. Behind her smile is a little girl fighting
to walk, talk, eat and play.
Angelina suffers from
a rare congenital disorder, Agenesis of the Corpus Callosum (ACC). In simple
terms, she is missing the middle area of the brain that connects the two
cerebral hemispheres and is the control centre for higher neural functions
including our motor, sensory and cognitive functions. This impacts Angelina’s
ability to walk, talk, eat and control her emotional needs.
Angelina also suffers
from Microcephaly (small brain) which refers to a condition in which a
child’s head is smaller than the typical range for the child’s age
genetic testing, we were recently advised that Angelina’s condition arises from a calcium/calmodulin-dependent
serine protein kinase (CASK) gene mutation that has only recently
been discovered and is a rare condition affecting only an estimated 50
I was informed of
Angelina’s diagnosis when I was 34 weeks pregnant, following a routine
ultrasound. The probable outcome provided by most of the members of the medical
team, was that Angelina was unlikely to have any quality of life and she would
be unable to walk, communicate and would be severely delayed. I was given the
option to terminate and had seven days to make this life-changing decision due
to the impending birth being only weeks away.
We made the decision
to proceed with the pregnancy and have our little angel and thank god we did,
as she has defied the odds given to us. We wish to raise awareness and give
other families hope that science is not always black and white and choosing
hope, love and faith sometimes wins.
birth, we commenced early intervention therapy. This involved physiotherapy,
occupational therapy, speech therapy, music therapy and Feldenkrais therapy.
The early intervention has assisted Angelina immensely and she is a long way
away from not having any quality of life. Angelina has also participated in
intensive therapy programs at Therapy For Kids at Leichardt, and took her first
amazing steps there when she was three and a half years old.
While Angelina is
progressing every day, therapy is required to take place daily so that there is
constant stimulation of her brain, otherwise, she may regress, and her memory
is affected so repetition is essential.
Day to day life can
be immensely difficult due to the delay in her cognitive and physical
abilities. Eating solid food is still very hard for Angelina, some days feeding
can take up to an hour —not understanding her needs and wants when she is
unable to communicate can result in meltdowns regularly which can be
heartbreaking to watch, and pushing Angelina through therapy on a daily basis,
can be both emotionally and physically draining for the whole family.
The recent events of COVID-19 have impacted our lives greatly. The
Government refers to the vulnerable as being the elderly on a daily basis,
however, Angelina is also vulnerable along with many others with disability or
genetic diseases. The fear of simply going to the supermarket and possibly
being exposed to the virus and then passing it onto your vulnerable child, without
knowing how it would impact them is a fear I go to bed with every night.
The biggest impact has been face-to-face therapy coming to a
sudden halt and the adjustment to therapy being performed via Zoom at home.
Particularly, physiotherapy was probably the most difficult and this
unfortunately has meant that Angelina’s walking and balance has suffered, but I
believe she will regain her strength and coordination, once we are back to a
There have also been positive aspects of being forced to stay
indoors. Angelina began to explore her toys and just play like any other normal
child independently and with her older brother. As a result of playing and
watching her older brother, she has now commenced saying more words and
communicating so much more. Most of all, her personality is shining through,
her laughter and playfulness is something that brings us so much joy! There are
no words that can describe the feeling of being able to experience her joy, as
emotion was something we were told she was unlikely to have or understand.
We do not know what
the future holds for Angelina, however, she has a fierceness in her that is
indescribable. We know that gene therapy is something that may assist her in
the future. As parents we will fight and raise awareness for this avenue to
grow and pray that one day there is gene therapy available for our little angel
and other families affected by CASK.
You can follow
Angelina’s journey on Facebook.