Angelina is one of the 2023 Rare Disease Day Heroes
This story has been shared by Angelina’s mum
Angelina is six 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, play and control her emotions.
Angelina suffers from a rare gene disorder called CASK (calcium/calmodulin-dependent serine protein kinase). This gene mutation caused a number of brain abnormalities including agenesis of the corpus callosum (ACC) and microcephaly disproportionate pontine and cerebellar hypoplasia (MICPCH). 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 and her head and brain is smaller than the typical range for a child’s age and gender.
I was informed of Angelina’s diagnosis of ACC 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 the pregnancy and had seven days to make this life-changing decision due to the impending birth being only weeks away.
My husband and I 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.
Following Angelina’s birth, we commenced early intervention therapy. This involved physiotherapy, occupational therapy, speech therapy, music therapy and Feldenkrais therapy. We also carried out therapy at home on a daily basis and my parents would assist in this as well – so it was around the clock. 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.
Day to day life can be immensely difficult due to the delay in Angelina’s cognitive and physical abilities. Angelina was also diagnosed with epilepsy last year and this has caused an additional amount of stress for the whole family.
We were first told about CASK when Angelina was about three years old and at that time, there were only 50 children reported around the world with this rare disorder. After reaching out and becoming part of a CASK Parents Facebook page, there is now about 200 children that we know of.
Following a continuous search for answers, we became aware of two scientific reports which suggested CASK with MICPH may be degenerative (brain cells dying). After becoming aware that some children with CASK regress and pass away before they reach adulthood, my husband and I established the Angelina CASK Neurological Research Foundation (ACNRF) with a vision to advance medical research with the foremost objective being to find a cure for CASK gene mutations and associated conditions. Within 18 months of being established, we raised $80,000 to fund research in the United States (US) into a therapeutic treatment that may prevent cerebellar degeneration and improve the quality of life of those with CASK. Remarkably, we also just established ACNRF in the US and have collaborated with CASK Research Foundation in the United Kingdom and AECF (French Foundation) to raise funds for research into a gene therapy that if successful, would change the trajectory of CASK.
We do not know what the future holds for Angelina, however, she has a fierceness in her that is indescribable. As parents we will continue to raise awareness and fight for treatments and ultimately a CURE for Angelina and those families affected by CASK.
You can follow Angelina’s journey on Facebook.
If you wish to learn more about RVA Partner, ACNRF, visit their website.
Please check the Rare Disease page(s) for related Support Organisation(s)
Calcium/Calmodulin Dependent Serine Protein Kinase (CASK Mutation)Disorder of the Corpus Callosum (DCC)