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January 8, 2016: Bridgetown girl Leila Maddams, 7, is battling a rare genetic disorder that prevents regular growth patterns within her body.
The courageous child and her mother are calling on the Australian Government to provide access to the required specialised medical treatment through the Pharmaceutical Benefits Scheme (PBS).
Leila was diagnosed about three years ago with Morquio A syndrome (MPS IVA), a progressive illness which stops the body from producing an enzyme that breaks down waste products and prevents regular growth within her body. MPS IVA causes heart, lung, sight, hearing and dental complications as well as skeletal abnormalities and breathing problems.
Mother Erin Maddams said it was a terrible illness and was completely unexpected as they thought their daughter was a healthy four year old when she was first diagnosed.
"We were shocked when we first found out that Leila had such a debilitating illness," Mrs Maddams said.
"We were first notified that something was not right when a teacher and occupational therapist at Leila's school suggested we speak to our local doctor.
"We were then referred to a Bunbury specialist who quickly moved us onto a specialist at Princess Margaret Hospital (PMH)."
Leila is believed to be one of only five children in Western Australia and one of 20 Australia wide who suffer from this genetic disorder.
Upon diagnosis, Leila had to undergo spinal surgery and was in a cast for three months.
PMH Specialist Dr Balasubramaniam was involved in a clinical trial taking place at the hospital where children with MPS IVA were being treated with an enzyme replacement therapy (ERT). Dr Balasubramaniam pushed for Leila to be accepted into the clinical trial and she now travels the three hours to Perth each week for her infusions.
Since receiving ERT, Mrs Maddams has noticed changes in Leila’s stamina and energy and she has grown a little.
"Although we weren't aware Leila was unwell, looking back we can now see that she really was lacking energy and was struggling to keep up with her friends," Mrs Maddams said. "Since the ERT has commenced Leila has so much more energy and it is great to see her being able to play and keep up better with the other kids in the playground."
The ERT costs $100,000 per annum and the Maddams family are very thankful that they are in the clinical trial, so they don't have to pay for the treatment yet. But Mrs Maddams says she is not sure how much longer the trial will continue.
"Leila has been receiving this treatment for nearly two years now. She had her 100th infusion just this week," she said.
"This illness is life threatening and Leila will have to have this treatment for the rest of her life. The ERT is a life saving drug that helps Leila maintain a happier and longer life span. Without this treatment, Leila's health would deteriorate rapidly.
"The treatment is making a huge difference to her health and her life. She has more energy and the Doctors are reporting to us that her internal organs are progressing very well.
"We have been told by the Doctors that Leila can stay with the ERT for a further 12 months, but at this stage we really don't know what will happen after that.
"We are hoping to persuade the Australian Government to get the treatment and medication onto the PBS so that Leila and other sufferers around the country can continue to prosper, hopefully have a better life and stay with us for longer.
"It was knocked back last year and is up again in March for reassessment, so we hope that the government is able to make the right decision so as to help our daughter progress and hopefully help her live for longer.
"As a mother I feel very strongly about raising awareness for Morquio A. Leila is a beautiful, caring and amazing little girl and we cherish every moment we get to spend with her.
"She has touched the hearts of so many and deserves the best quality of life that my family and I will continue to give her.
"I really hope that the Australian Government will place this treatment onto the PBS so Leila and other sufferers can continue to use it," she said.
