Mum Julie Gravina never thought she would see the day that her five-year-old daughter would go for one entire year without a hospital stay â“ but while 2020 has been a nightmare for most, its been a dream come true for Charlize.
We used to think of hospital as a second home. Now to be able to cut ties, so that we now think of ourselves as visitors â“ well thats the way it should be.
Mum, Julie Gravina
The Gravina family are more used to setbacks than wins.
Twins Charlize and Isaac were diagnosed with a severe metabolic disorder, Propionic Acidemia, after ending up in intensive care not long after birth. The condition causes a buildup of acids in the blood, urine and tissues, which is toxic to the bodys organs.
Both infants became so ill they required a liver transplant, but unfortunately Isaac went into septic shock after his operation and died. The family then had to put Charlize through the same procedure in order to save her life. It didnt work and she required a second transplant.
Life has been a constant struggle since then, but Julie says they are turning a corner. This is her second year being a face of Jeans for Genes, and life has really changed in that time. She now eats food and does not require a pump to deliver nutrients to her body.
It is absolutely unbelievable to think about where weve come from, Julie said. To see her eat and drink is an absolute joy. Shes able to be the little girl she wants to be. She couldnt play with cousins, she couldnt go to parties, because if she picked up a sniffle shed be in hospital. Shes been able to go to preschool for the first time, she does dance class, and shes loving life. These are things I could never have imagined for Charlize.
While COVID-19 has been frustrating, isolation is nothing new for Charlize, and Julie is somewhat relieved that people now understand why its important to be cautious around children with suppressed immune systems.
Everyone is now getting a taste of what weve lived. Weve had to create a world in a bubble for her. But more importantly, maybe people will understand the importance of research.
Charlize has given her liver cells to Childrens Medical Research Institute for gene therapy research, where one injection could replace the need for a liver transplant.
The liver transplant has saved her life, but we live in fear of rejection, and she still has a limited life span,â Julie said. If she could be given gene therapy, her life span would be normal. It may be too late now to help Charlize, but lets hope it can help future generations.
Learn more about Propionic acidemia here.
You can help kids like Charlize right now by becoming a fundraiser, donating, volunteering, or supporting friends who have signed up to fundraise for Jeans for Genes.
