Why I’m Fundraising
My daughter, ten-year-old Sophia lives with PGAP1 deficiency, an ultra-rare genetic condition that affects almost every aspect of her life. She experiences regular seizures, has very low muscle tone, is unable to speak, and relies completely on me for her daily care and support.
For Sophia, even the simplest things can be incredibly difficult. Sophia can only walk a few steps, and when she becomes upset or frustrated because she cannot communicate, her emotions can quickly escalate. She experiences significant behavioural challenges, not because she is naughty or difficult, but because she is trying to tell the world something without the words to do it.
Every week, Sophia works with a speech therapist, exercise physiologist and positive behaviour support specialists to help her reach her full potential. As Sophia has grown older and heavier, I can no longer take her to these appointments, so her wonderful therapy team now comes to our home.
Behind every therapy session and every small milestone is a little girl trying to overcome challenges that no child should have to face. Despite everything, Sophia continues to bring so much love and joy to our family.
Because PGAP1 deficiency is so rare, research is desperately needed. Families with children with rare diseases are often left without answers, treatments or the hope that comes from knowing scientists are working towards better outcomes.
By supporting PGAP1 research, you are giving children like Sophia, and families like ours, something priceless: hope.
Hope that one day children living with this devastating condition will have access to better treatments. Hope that researchers can unlock answers that simply don't exist today. Hope that children like Sophia will have the opportunity to live healthier, happier and more independent lives.
Sophia cannot ask for your help herself. So today, I am asking on her behalf.
Please join me in funding the research that could change the future for children living with PGAP1 deficiency.
