This is Skylah, she loves to dance and will try anything once, her next undertaking will be wheelchair basketball and art classes! Skylah was diagnosed with Mucopolysaccharidosis after a chance encounter with an Ear Nose Throat nurse, and she and mum, Jessica, thank CPA in Croudace Bay, Central Coast for their support at every stage of her journey.
Jessica thought she had caught a stomach bug. Little did she know, she was pregnant with her fourth child. After a tough pregnancy, Jessica gave birth to a beautiful baby girl.
During Skylah’s first year of life, her mum noticed she wasn’t meeting milestones like her siblings. She had little movement, had difficulty opening her hands, and wasn’t reacting to loud noises. Skylah spent the first 12 months of her life in and out of hospital and doctors’ surgeries. Doctors would diagnose tonsillitis, bronchitis and chest infections with the reassurance that ‘sometimes kids just keep getting sick’.
When Jessica noticed Skylah was having difficulty breathing while sleeping, she arranged for a sleep test which confirmed her daughter had obstructive sleep apnoea. She was put on the waitlist for an Ear Nose Throat specialist to have the blockage removed.
This appointment was the watershed moment in Skylah’s journey. It was here that Jessica voiced the concerns she had about her daughter’s development and symptoms to the nurse. Unbeknownst to her, this nurse had recently spent time at Sydney Children’s Hospital learning about children’s Mucopolysaccharidosis or MPS. Skylah’s symptoms fit the bill – the nurse was convinced Skylar has MPS. A range of tests followed which confirmed Skylah had Hurler Syndrome – the most severe form of this disease. What followed was a whirlwind of treatment including two bone marrow transplants, surgeries and therapies which continues to this day.
During this time, one of Jessica’s friends suggested she contact Cerebral Palsy Alliance for assistance. Jessica was hesitant as her daughter did not have cerebral palsy, but her friend encouraged her to give it a try – “Cerebral Palsy Alliance is not only for children with cerebral palsy, the organisation supports children with many forms of disability,” she assured her. So, Jessica reached out and they have never looked back.
Skylah now attends weekly sessions of speech, physio and occupational therapies at Cerebral Palsy Alliance in Croudace Bay. Skylah enjoys her time with her therapists and the activities so much, her speech pathologist Gem Myers commented that
Skylah even attends school holiday programs, which she loves because she gets to meet new children, play and communicate using an Accent1000 device. Similar to an iPad, the device has given Skylah the power and independence to communicate with family, friends and her community with confidence. A symptom of Hurler Syndrome is Macroglossia (an enlarged tongue) which can make it difficult for others to understand her. Just two years ago, Skylah refused to speak with strangers, and would even refuse to look directly at people. She participates in aided language therapy where she learns vocabulary for emotional expression and academics using her device. The technology has brought her out of her shell. Skylar is now cracking jokes and showing her cheeky side.
Since starting her therapy, Skylah’s life expectancy has almost doubled. Now 7, Skylah is thriving, she is in year 1 at school and loves it. She has learned to walk and only uses her wheelchair for long distances.
Last year, Skylah realised one of her dreams – she danced in her first concert where she performed a tap, ballet, and jazz routine. This year, she wants to try singing, swimming, wheelchair basketball and art classes. The sky’s the limit for Skylah!
Jessica’s goal for Skylah is to ensure she gets the chance to experience and enjoy everything she wants in life, just like her siblings. With the support and guidance of Cerebral Palsy Alliance and the team at Croudace Bay, Skylah is set to achieve this and more.