Fierce beautiful Angelina
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 and gender.
Following extensive 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 children worldwide.
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.
Following Angelina’s 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 face-to-face regime.
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.
Please check the Rare Disease page(s) for related Support Organisation(s)
Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)