Stories

Angelina Spreading Light, Love, and Inspiration on CASK Gene Awareness Day

July 10, 2024

To recognize CASK Gene Awareness Day on July 15, Global Genes reached out to Giovi Moschoudis, mother to Angelina who has CASK Gene Disorder, Founder of Angelina CASK Neurological Research Foundation Australia & USA and Co-Founder of CASK Coalition. Gina shared Angelina’s story with Global Genes:

The Beginning

In 2016, six weeks before Angelina’s birth, a routine ultrasound revealed that she was missing the corpus callosum, the middle part of her brain that connects the two hemispheres. This news changed our lives forever. We were given the option to terminate the pregnancy due to concerns about her quality of life and survival, and a recommendation was made not to resuscitate her if needed. We chose to give her life.

Following her birth, it was found that not only was she missing part of her brain, but she had a small brain referred to as microcephaly.

In 2019, following genetic testing we were informed that Angelina’s brain abnormalities were caused by a CASK Gene mutation. At that time, only 50 children around the world were reportedly diagnosed with CASK.

The Rare Disease Journey

Having a child with a rare disorder means every day is uncertain. I can only describe it as ‘bracing yourself for the worst and hoping for the best’.

There are no clear answers or paths. I immersed myself in researching CASK and similar rare diseases, trying to prepare for what might come, was it an early death? Will she ever say mummy?  will she ever walk?

Despite the odds Angelina has made progress with intensive therapy, she began walking later in life and smiles, laughs, beginning to communicate more and more each day, & loves the wiggles like any other little girl. However, her daily life is filled with therapy around the clock as repetition is essential to keep her progressing. Her motor, sensory and cognitive functions are adversely impacted, even though she is eight years of age her intellectual age is about two. She also recently was diagnosed with epilepsy.

ACNRF Established

Angelina is one of about 270 around the world who suffer from this condition. As we began to network with other families thru the CASK Parents FaceBook Page, we had learned that some children had passed away in infancy and others in adulthood, and some regressed and with these findings, we did not want to wait and see where Angelina would fit on this journey, so my husband and I established ACNRF Australia in 2021. Within 18 months, ACNRF was also established in California. Shortly thereafter, CASK Mums Tara McCarton and Christy Naughton joined ACNRF USA.

Within just two years of our establishment, we have not only funded research into a therapeutic that is aimed at improving the quality of life of boys and girls with CASK, thanks to our generous donors, but also launched the CURE CASK Campaign. This initiative, in collaboration with Laura Hattersley of CASK Research UK and Thierry Kervella  of Association Enfants CASK France, aims to fund a promising research project lead by UC Davis California focused on developing a gene therapy that may cure CASK by activating a backup copy of CASK in girls. Together we funded the First Phase of this Research. ACNRF USA are now raising funds for the Second Phase.

Following this, our charities formed the CASK Coalition to unify our efforts in advancing treatments and finding a cure for CASK disorders.

Through our journey with Angelina and the establishment of ACNRF, we’ve learned that unity and shared purpose are crucial in tackling rare diseases. The CASK Coalition represents a collective effort, where our charities have come together worldwide, fostering hope, support, and advancements in research. Our recent Global Race for Research exemplifies this spirit, demonstrating that together, we can make strides toward a brighter future for all CASK warriors. As we continue this fight, our commitment to improving lives and finding a cure remains unwavering, driven by the belief that collaboration and community give our children the best possible chance.

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