RARE Global Advocacy Alliance Member Spotlight: Giovi Moschoudis
December 9, 2022
Organization(s) you represent:
Angelina Cask Neurological Research Foundation
Cask Gene Mutation and Related Disorders
ACNRF wishes to advance innovations in medical research related to the nature, diagnosis, prevention and treatment of CASK (calcium/calmodulin-dependent serine protein kinase) gene mutations and related conditions.
What led you to the rare disease community?
Our daughter was diagnosed with CASK when she was 3 years old and at that time we were told there were only 50 cases around the world. That is when our rare disease journey started and the confronting reality that in the first instance ‘rare’ means lack of knowledge, lack of possible treatments and cures, and as a parent feeling like “you are playing a game of chess in the dark and moving pieces with your hands tied behind your back” when you are suddenly informing the medical profession of what your child’s rare disease entails and forced to make life changing decisions with no real information other than looking to your rare disease community for guidance. That feeling gave me power and strength to try make a change.
What do you think are the areas that are lacking in the community (to your org or in general)?Foremost, research into CASK and the associated disorders. Answers to why and how symptoms present themselves in each individual with CASK and possible treatments that may improve the quality of life of those with CASK. An example of a feature of some individuals with CASK is Epilepsy and whilst most know about general epilepsy, there is still not enough research on treatments and cures for the rare forms of Epilepsy that occur with rare disorders such as CASK. Our community members are relying on each other to make decisions about particular medications or other related treatments or symptoms that may occur over time and what they may or may not relate to.
What are your areas of expertise?
Prior to becoming a mum to my two children, Aydan and Angelina, I was a Lawyer in both the private and public sectors. I then resigned to commit to intensive therapies for our daughter Angelina. I am now the Founder and CEO of ACNRF ( Australia) and (USA). I am also studying Brain and Cognitive Science which I hope will assist in our rare disease journey.
Please describe any major milestones your organization has hit or has coming up that you are proud of.
Within 18 months of being established, we were financially funded (thanks to our generous donors) and our first research project for treatment has launched, that we hope may improve the quality of life of those with CASK. We also recently established ACNRF in California USA which we are extremely proud of and hope that this will create more opportunities for the CASK community in creating awareness and access to further research for treatments and ultimately a cure.
What is your hope for the future for rare diseases?
For patients with rare diseases, awareness, or the lack thereof, is the biggest barrier to receiving an
accurate, timely diagnosis.I hope that both the medical profession and community become more aware
of rare diseases and their symptoms, as this would result in greater possibilities that others who are not
diagnosed may be.
I also hope that one day it is accepted that any research carried out stands to benefit all of us and all
health conditions. Whilst one rare disease may be “rare” in numbers, collectively rare diseases together
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