We believe that for every question there is an answer and for every illness there must be a cure. From discovering genes to developing life-saving vaccines, researchers at MCRI try to understand how diseases happen and how we can cure or prevent them.
Childhood illness is often unexpected and finding the answer is not always immediate. Sadly, this was the case for William and his family.
William was only 24 hours old when he started having seizures. His mother Amanda remembers “I was in shock. I couldn’t understand why this was happening to my baby. Despite the efforts of neurologists and doctors, William was having around 80 seizures per day.”
At the time, Amanda and her family lived interstate and away from the support of their family and friends.
“My husband was constantly on the phone explaining to our loved ones what was wrong with William, but we didn’t know the cause.” Amanda says. “We were thrown into a world that we didn’t know existed – an unknown world of waiting, sadness, confusion and frustration.”
After two months in hospital, many invasive tests and a long list of specialists, William was still having seizures every half hour – he was also diagnosed with cerebral palsy. No one knew why.
Amanda remembers. “We were told to take him home, enjoy him and start memory making. Doctors advised we had approximately nine months with William.”
When William was two years old, he took part in a research project identifying the genes involved in causing epilepsy.
He was diagnosed with a genetic condition called KCNQ2 and he was able to enter a trial with a range of drugs to minimise seizures. Luckily one of the drugs worked for William and his epilepsy seizures decreased considerably.
One of the biggest day-to-day problems for William was the ongoing severe pain related to his movement disorder.
Unfortunately 75 percent of children with cerebral palsy experience pain which directly impacts their quality of life.
William was referred to MCRI researchers to participate in a trial that involved the use of a drug that hasn’t previously been tested for pain management in children with cerebral palsy.
William finished the trial recently and the results for him are outstanding - his movement capacity improved by 70 per cent due to pain reduction.
For the first time in a very long time William is sleeping through the night because his pain has been reduced dramatically. Amanda shares, “He is finally able to do daily tasks pain free, like sleep, shower and transfer into equipment. Thanks to this trial William is enjoying life. His favourite activities are riding his bike and swimming.”
William is now a happy six-year-old boy who loves life and music. He wants to be a rock star when he grows up and at the moment, he is enjoying the outdoors.
It is thanks to genetic testing and medical research that William was diagnosed with a genetic condition and participated in a MCRI trial with a specific drug that changed his life.
At MCRI we want to give ill children the possibility to be a part of life-saving trials that can improve their quality of life.
You can help change the lives of children everywhere by making a donation to our appeal today.
Together, we can give answers to families who are still looking for one. Thank you for your generosity and for sharing our commitment to find a healthier future for our children.