The first 4 weeks of Emilia’s life was difficult to say the least. She was not sleeping and despite constantly feeding, she was dramatically losing weight.
At first, Emilia’s parents, Jacqueline and Chris, thought that she was just petite, but they soon realised that there was something else going on and they were determined to find out what.
They consulted multiple feeding clinics and doctors to understand why Emilia wasn’t putting on weight like other babies.
When Emilia was 3 weeks old, their doctor called them into the paediatric unit at their local hospital for Emilia to have a second newborn screening, as the first one had come back with some abnormalities.
Roughly a week later, Jacqueline and Chris received a call from the Cystic Fibrosis Clinic at Westmead where, to the family’s dismay, they were told that Emilia had mutations in two Cystic Fibrosis genes and was therefore officially diagnosed with Cystic Fibrosis.
To the brand-new parents, the news came as a complete and utter shock. Neither of them knew that they were both carriers of the mutant CF gene. After the initial shock wore off, they met with Emilia’s CF team the very next day at Westmead, and her treatment began straight away.
Within a short amount of time, their little girl started to come into her own, putting on weight and finally not screaming in pain after every feed.
At first, all the additional support Emilia would need seemed overwhelming—daily medication, physio, and enzymes before every meal—but with the help of her CF clinic team and support from family and friends, everything began to fall into place and become part of their everyday routine.
Emilia has just celebrated her 1st birthday, reaching her major milestones, and kicking goals along her CF journey. Emilia is bright, funny, and lights up any room. She loves getting into mischief with her two puppies, Patches and Alfie, and loves dancing to music.
“Every day Emilia brings more love and joy to our lives than we could have ever imagined. We are so proud of how far she has come and feel so lucky to be her parents.”
“As parents of a child with a genetic condition, the research happening at Children's Medical Research Institute provides us with hope. Hope that we can, like many others, live in a world where genetic diseases like Cystic Fibrosis no longer exist. Without the many years of research conducted by others in the past, and the testing developed, our little girl would not have been diagnosed as early and she would have continued to suffer without treatment before our very eyes. Emilia would not be where she is if it weren’t for medical research."
"The work CMRI is now doing to find treatments and cures will one day impact families like ours, and the hopes and dreams we have for our daughter."