When Leila was 4, she was diagnosed with Mucopolysaccharidosis type 4 (MPS IV) also known as Morquio A Syndrome: a rare progressive condition that mainly affects the skeleton. The life expectancy of people with MPS IV depends on the severity of their symptoms – severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Spinal cord compression and airway obstruction are major causes of death in people with MPS IV.
Usually diagnosed in early childhood, the rate at which symptoms worsen varies from child to child, with individuals developing various skeletal abnormalities including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists. People with MPS IV often have joints that are loose and very flexible (hypermobile), but they may also have restricted movement in certain joints. They often develop cloudy corneas leading to vision loss, recurrent ear infections causing hearing loss, frequent upper respiratory infections and sleep apnoea, thin tooth enamel causing multiple cavaties, heart valve abnormalities, enlarged liver and umbilical or inguinal hernias. However, unlike some other types of mucopolysaccharidosis, MPS IV does not affect intelligence.
A characteristic feature of this condition is odontoid hypoplasia: the under-development of a peg-like bone in the neck which helps to stabilize the vertebrae. Odontoid hypoplasia can lead to misalignment of the spinal bones in the neck, which may compress and damage the spinal cord, resulting in paralysis or death. Leila had to undergo spinal surgery in October 2013 to prevent her neck bone from crushing her spinal cord, and needed to wear a cast for 3 months afterwards.
Following her surgery, Leila was able to apply for a drug trial to help slow the progress of this aggressive disease and give her a better quality of life. In February 2014 she was given a place in the study, which meant weekly infusions in Perth (300 kilometres from their home town) along with many other appointments. Leila’s parents call it her hope drug. This meant Leila missed out on a lot of school and being with friends and family, which was difficult both physically and mentally.
Now 8, Leila continues to have infusions every week, although she no longer has to travel to Perth to receive them. Since starting the treatment, Leila has more stamina and fewer respiratory and cardiology issues.
Even with her hope drug, Leila finds it hard keeping up with her peers and doing physical activities. She never complains about all the trips to hospital – she is absolutely amazing, and despite putting up with a lot of pain she still manages to have a go at anything and wear the biggest smile on her face.
Her treatment will continue for life.
Leila loves arts and craft, cooking and turtles.