Sunday, 28 February is International Rare Disease Day, a day to raise awareness among the general public and decision-makers about rare diseases and their impact on people’s lives. The Advocate has spoken to three people with rare diseases, via Rare Voices Australia, and will be profiled over the coming days.
Angelina Moschoudis was born with a rare congenital disorder called Agenesis of the Corpus Callosum (ACC). The now five-year-old is missing the middle area of her brain that connects the two cerebral hemispheres and is the control centre for higher neural functions, including motor, sensory and cognitive functions.
Angelina also suffers from Microcephaly, a condition in which a child’s head is smaller than the typical range for the child’s age and gender.
Angelina’s condition arises from a Calcium/calmodulin-dependent Serine Protein Kinase (CASK) gene mutation. It’s an extremely rare condition affecting only an estimated 50 children worldwide.
Angelina’s mother, Giovi, says her smile lights up her mummy’s, daddy’s and brother’s heart each day.
“Behind her smile is a little girl fighting to walk, talk, eat and play. 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 her. Some days feeding can take up to an hour,” Giovi said.
“Not understanding her needs and wants when she is unable to communicate can result in regular meltdowns, which can be heartbreaking to watch.
“Pushing Angelina through therapy on a daily basis can be both emotionally and physically draining for the whole family.”
Giovi said the COVID-19 pandemic impacted their lives greatly.
“Angelina’s face-to-face therapy came to a sudden halt. Missing out on physiotherapy was probably the most difficult and this meant that her walking and balance has suffered,” Giovi said.
Giovi said being forced to stay indoors wasn’t all bad for her daughter.
“Angelina began to explore her toys and just play like any other normal child independently and with her older brother.”
Giovi says that as a result of playing and watching her older brother, Aydan.
“She has now said more words and is communicating so much more. Most of all, her personality is shining through. Her laughter and playfulness 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 to understood.”
Giovi, now a full-time carer of Angelina, said her daughter’s condition is now degenerative. This means that Angelina may lose her skills including her ability to walk, that she has been trying so hard to achieve.
In 2020, the mother of two started a foundation in Angelina’s name, the Angelina CASK Neurological Research Foundation, in an effort to advance medical research to find a cure for CASK gene mutations and associated conditions related to CASK.
“Genetic screening is so important and was something that we were not familiar with until we obtained a report from a neurologist in the US who informed us that this could provide the gene that caused Angelina’s brain abnormalities and whilst this does not change her diagnosis it provides avenues for treatment or research into a cure.
“Whilst Angelina’s condition was not inherited from either I or her father, it occurred in Angelina for the first time. Genetic screening also provides an option for families who may carry a genetic condition and are unaware of it prior to starting a family.
“I was informed of Angelina’s diagnosis when I was 34 weeks pregnant, following a routine ultrasound. I was told by members of the medical team that Angelina was unlikely to have any quality of life. 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. Thank God we did. She has defied the odds. We wish to raise awareness and give other families hope that science is not always black and white, and that choosing hope, love and faith sometimes wins.”
You can follow Angelina’s journey here: Fierce Beautiful Angelina: Facebook Page.