Simone Lionetti 6yo is championing the 2016 RCH Good Friday Appeal.
This bright and brave little girl is battling a chronic degenerative muscular disorder and despite her hardships she’s living life to the fullest and surpassing expectations thanks to RCH care.
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When Simone was born her arrival was “much awaited and longed for” by parents Ella and Mario.
An alert baby, Simone reached many of her milestones and began talking from just 8 months of age. However, by 10 months Simone could not easily roll, she hadn’t yet begun to crawl and some physical skills –like grasping cutlery–seemed to regress. Certain this was more than Simone developing at her own pace, the Lionetti’s went looking for answers.
They consulted with their GP and paediatrician before being referred to the RCH. It was at the hospital that they met Neurologist A/Prof Monique Ryan. “A blood test and a long week of waiting” preceded the diagnosis of spinal muscular atrophy (SMA), a chronic progressive muscular disorder which results in severe muscle weakness. Initially, it was feared that Simone had Type 1 SMA, the most severe form, with babies affected rarely reaching their second birthday.
“We had never heard of this disease let alone understood anything about it,” says Ella. “We were devastated by the diagnosis and the weeks and months following it I would not wish on anybody.”
“However, this was the start of our close association with the RCH and, through the wonderful staff, we were given as much support, time to grieve and guidance as we needed.”
Simone responded well to treatment and eventually reached a significant milestone: balancing herself and staying in a sitting position without falling for more than 25 seconds. This breakthrough changed her prognosis to SMA Type 2, a less severe form with fewer serious implications and greater life-expectancy.
“Though the grey cloud of the early days has lifted, there are more issues to manage over time: contractures, scoliosis, bone density, fractures, respiratory issues, etc.,” says Ella. “But, as each one of these things rears its ugly head, we’re introduced to new people at the RCH and it never ceases to amaze me how empathetic, kind and caring everyone is.”
To provide Simone with the best care possible, she attends an RCH Neuromuscular Clinic every three months. There she visits with specialists from the seven departments that manage her care: Neurology, Orthopaedics, Orthotics and Prosthetics, Physiotherapy, Occupational Therapy, Respiratory Medicine and Genetics. The Neuromuscular Clinic includes:
- RCH staff support and education for Simone’s family and carers around her diagnosis
- Strength and functional ability assessments for activities like sitting, feeding herself and movement into and out of her wheelchair
- Examinations of Simone’s joint contractures, bone health, muscle and joint flexibility
- Fittings for orthotics that support her ankles and spine, helping them to maintain proper positioning as she grows
- Lung function assessments
- Exercises to maximise Simone’s independence in daily activities, paying particular attention to hand function
- Acute care as needed
Thanks to great RCH care and the unwavering support of her family, Simone is enjoying “unbelievable independence” and has grown into a vibrant six year old.
Ella credits some of this to RCH staff, who cautioned the Lionetti’s not to feel sorry for Simone.
“They advised us not to treat Simone differently from any other child because while we may know the limitations of her condition, she doesn’t. She’s never known any other way of life and doesn’t feel sorry for herself, so we shouldn’t either.”
By supporting Simone in conquering her goals, she’s acquired a can-do attitude and a long list of accomplishments. Despite being in a wheelchair (a hot pink number which she manoeuvres with the skill of a Formula 1 driver) Simone has a great group of friends, participates in track and field, does dance classes and walks herself to school. A go-getter, she plans to become a veterinarian when she grows up.
When asked what they want for Simone, Ella and Mario don’t hesitate in their answer.
“Our goal is to enable Simone to live a happy, normal life, filled with opportunity and to keep her as healthy as possible for when an SMA cure is developed.”