Little Emilia Lonsdale does what other 18 month-olds do – she loves to play, sing, dance and giggle – but for this Cobbitty youngster – she is also the face of Jeans for Genes.
The young ambassador is more than happy to flash a smile and remind folks every cent donated to this cause, which is officially on August 6, helps research into cystic fibrosis (CF) – donations can be made any day of the year.
CF is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
For Emilia funding research into CF is very important – it can help prolong her life and that of other youngsters. She is one of 3,500 people living with the disease.
One of the biggest hopes for families of children with genetic disease is gene therapy. This technology adds a working copy of a faulty gene to diseased cells or replaces the genetic error with a functioning ‘edit’. Gene therapy aims to cure, not just treat, genetic disorders by addressing the cause – errors in genes.
The toddler was diagnosed with CF just shy of four weeks of age.
For Jackie Long and her husband Chris Lonsdale it was a relief to know what was making their baby unwell– they can now work towards making life as normal as possible mixed in with all the treatments and hospital visits.
“We know all that has to be done is in the best interest of keeping Emilia healthy and that will always be our focus,” Ms Long said.
“We knew that the role as first time parents was never going to be an easy one, but from the moment Emilia was born it was a struggle and we knew something wasn’t right.
“Emilia struggled with feeding and putting on weight and we attended multiple feeding clinics to no prevail.
“As strange as it sounds, hearing her diagnosis almost made things easier as we knew what we could do to support her.
“What was previously unknown was now known and we felt a sense of relief.
“We tell her team all the time, we knew she was special, but this just confirmed [it] and she now has not only a large group of family and friends who love and support her, but a whole supportive CF team at Westmead Children’s Hospital.”
For Emilia and all children with CF day to day is a struggle with an array of medications needed to be taken to help process foods and thin the build-up of mucus that their bodies produce.
“It also includes daily physio and unfortunately a life span that is significantly reduced,” Ms Long said.
The proud mum said despite everything “[Emilia] has a smile that lights up the room”.
“She loves to play, loves to dance, loves to listen to music and one of her biggest smiles and giggles is reserved for her two puppy dogs.”
The Children’s Medical Research Institute in Sydney is renowned for its research contributions to the “genomic revolution’’.
Research leader, Associate Professor Leszek Lisowski and his team are developing gene therapy tools that can be used in conditions ranging from blindness-causing eye diseases to cystic fibrosis and life-threatening metabolic conditions of the liver.
“Gene therapy has the power to fill the gap that has formed between our ability to diagnose and cure a disease and therefore bring real benefits to patients,” Professor Lisowski said.
Emilia’s fundraising page has reached its goal not once, but twice and it has been increased for a third time to $2000.
To make a donation to Emilia Lonsdale’s fundraiser head to https://fundraise.jeansforgenes.org.au/fundraisers/emilialonsdale/jeans-for-genes or JeansForGenes.org.au