At MCRI we are committed to giving all children the opportunity to live healthy and fulfilled lives.
Our researchers work around the clock to find solutions for a broad range of health issues affecting children today. Their expertise and dedication, combined with technological advances and the generous support of our community, are focused on finding the diagnosis and the answers ill children and their families are looking for.
Unfortunately, sometimes the answers are not immediate. This was the case for Anna Williams and her son, Charlie.
Charlie was a happy and bubbly eight-month-old when he became ill. “We were home cooking dinner and Charlie already had a cold.
Then out of the blue, he stopped breathing. Everything that happened from there was a blur.” Anna remembers. “He was rushed to hospital where he stopped breathing again, but this time he needed a full resuscitation.”
From that time onwards, Charlie stopped breathing more frequently. Even simple movements like changing his nappy or feeding him, triggered breathing issues. He was admitted to the Paediatric Intensive Care unit where he was connected to a ventilator to help keep him alive.
Charlie spent the following two months in hospital only breathing with the help of the ventilator most of the time. Sadly, doctors were unable to find the cause of his illness.
“It was frightening not knowing what was wrong with my little boy. Seeing our son connected to a machine 24/7 and not being able to breathe for himself was devastating. There was nothing I could do to help him,” Anna says. “As a mother, you will give everything for the wellbeing of your children but I felt hopeless and terrified at the thought of losing him.”
Unfortunately, Charlie’s breathing episodes were getting worse and he started having seizures. The implications were devastating as he then lost some developmental skills he had previously gained.
Charlie was finally referred to MCRI in the hope that our researchers might be able to find an answer through our Centre for Genomic Medicine. Once Charlie’s genomic sequencing test was analysed, our skilled researchers found the answer they were looking for.
Charlie suffered from a rare but treatable genetic metabolic disease called riboflavin transporter deficiency.
Thanks to this discovery, doctors were able to tailor Charlie’s treatment and within four weeks, his independent breathing capacity improved and he started to make real progress with his overall health and development.
“We were so happy to see him coming back to us and so grateful for the great work of researchers and doctors. This test saved my son’s life.” Anna says.
Charlie started his path to recovery with rehabilitation so he could return home. Being in the Paediatric Intensive Care unit for such a long time had left him weak, so it took time to build up his strength again. After six months as a hospital inpatient, Charlie was ready to go home.
Today, Charlie is a healthy and happy boy who loves music, dancing and going to the beach, and is reluctant to stay quiet for too long. He still has a tracheostomy and still needs medical supervision, but everything is going in the right direction.
Your generosity and the commitment of our researchers have made this possible. But we still need your help as there are thousands of children and families who don’t have access to genetic testing or analysis, and for them, the journey is very different and their questions remain unanswered.
Together, we can make genetic testing available to more families, so ill children can get the answers they need to live healthy and happy lives.
Today, you can give children like Charlie and his family hope by making a donation to MCRI. Please give a gift that will last for generations.
Thank you for your generosity and for joining us on the journey to find a healthier future for children in Australia and around the world.