Supporting Josie living with Rett

Josie Suta was diagnosed with Rett syndrome in the UK at just 20 months before her family relocated to Australia in 2016. 

Rett syndrome is a neurological and genetic disorder. It is caused by a mutation of the MECP2 gene, found on the X chromosome. There are three stages of symptoms that include problems with language, coordination and repetitive movements. While there is no known cure for this recently identified syndrome, it has been found that therapy can slow the progress of movement loss common for those with Rett syndrome. 

For years the team at Cerebral Palsy Alliance have been renowned for building futures for people with cerebral palsy, but their skills along with their specialty knowledge and experience have been supporting children with a range of physical and neurological disabilities. This includes children with Rett and rare syndromes. 

As with all children with a disability, including Josie, in the first five years it’s imperative to access specific Early Childhood Early Intervention (ECEI) to harness the neuroplasticity at work in their developing brain. This is the time to ensure the best assessments, evidence-based therapies and intensive programs and access to highly skilled practitioners who can deliver the best for your child. 

 

Initial assessment and goals 

Josie’s mum, Andrea Suta, searched online for a Conductive Education provider and found Cerebral Palsy Alliance were the only service provider offering classes. She called and spoke to the supportive team who organised for Josie to have an assessment. 

Andrea said that the experience with Cerebral Palsy Alliance was amazing.

“We had Josie’s first assessment with Senior Occupational Therapist Lynette Keenan. It was really detailed, it was really a positive experience,” she said. 

 

For Andrea, this was different from her experience with her provider overseas. In their assessments and therapy session they had focussed on what Josie couldn’t do or wouldn’t be able to do. But that wasn’t the case at Cerebral Palsy Alliance. 

 

“Here it was lots more positive and the message to us was that Josie is a person, you know, let’s try and achieve her goals,” Andrea said. 

“We want her to have the supports she needs to develop alongside her peers,” Andrea says, “the eye-gaze is great for this and you never know where technology will take us in the future. We also need to keep her physically active because there is a stage with this syndrome where girls can physically decline quite significantly.” 

 

But it’s not just about what Josie needs right now. Every therapy and activity is delivered with future goals in mind. Andrea said “Long-term we would like for her to get a job, possibly in IT, an online job or something along those lines. What that looks like will be up to Josie, but for now that’s where we are aiming.” 

 

Services and supports 

Josie is in a critical time of her development, an important time for harnessing the neuroplasticity of her developing brain. Access to a range of therapies and supports is crucial, setting her up for the rest of her life. Andrea and Josie are regularly seen at their local site attending appointments. 

 

“We come to Cerebral Palsy Alliance for speech pathology, occupational therapy, physiotherapy, hydrotherapy and conductive education,” Andrea said. The one-stop-shop that is Cerebral Palsy Alliance offers a lot more than therapy. Drawing on a collective pool of knowledge, skills and research, the team can provide additional support and is an ECEI transition partner. 

“And the team here are amazing. They helped me with the NDIS plan preparation and submission, and have delivered things like the eye-gaze assistive technology, which has been a game changer for us,” Andrea said. 

 

Eye-gaze technology 

Josie is a bright four year old, with a cheeky smile and a determination she brings to all her activities. Through using her eyes, Josie’s communication tools have provided a window into her personality, kind-heart and joy that many would miss but her mother knew was always there. 

The eye-gaze technology has been the biggest tool to open up Josie’s world. At the start of her session with Speech Pathologist Anna Bech, Josie is quick off the mark and responding with just a flick of her eyes to Anna’s questions. 

“How are you feeling Josie?” Anna asks. 

Without hesitation Josie replies “excited” before using her eye-gaze assistive technology to direct the session of blowing bubbles and making choices. This is how our therapists harness neuroplasticity – by making the session fun, challenging enough and repetitive, all the things the brain likes to form and strengthen neural pathways for completing tasks every day. 

And Andrea has seen this change Josie’s life and the lives of her close-knit family.

“She has become a lot more alert and is less frustrated. We use the eye-gaze a lot at home and it means she can express herself and play with her older brothers.” 

 

Josie is non-verbal, which is a common trait of Rett syndrome. “For girls with Rett syndrome eye-gaze basically the main way they can communicate,” Andrea informs, “Josie can now instigate conversations rather than waiting to work through the yes or no options until we get to what she needs or wants.” 

Access and support to this technology has changed the way Josie interacts with the world around her. 

“She can now say: ‘I want building blocks, I want to read a book,’ and she can interact with you.” 

Andrea had a mother’s intuition and could tell that her young daughter was a keen observer.

“I always knew she understood everything around her,” Andrea says knowingly, “but thanks to eye-gaze other people are realising this too. She can go to a mainstream preschool and communicate with people. She doesn’t need me to look at her to understand what she is wanting to say, she can say it for herself. So yeah, the eye-gaze has totally changed our lives.” 

The eye-gaze assistive technology was implemented with the support of a Cerebral Palsy Alliance occupational therapist and speech pathologist. This multi-disciplinary team work together to maximise the potential of every child accessing ECEI services and supports. Once an assessment is complete and the right equipment selected, the Cerebral Palsy Alliance team work one-to-one to support the use of the equipment and technology. 

 

Moving into the NDIS 

Cerebral Palsy Alliance is an Early Childhood Early Intervention transition provider who has been supporting families move into the National Disability Insurance Scheme (NDIS). The team helped Andrea and her family through the transition process, to identify Josie’s key goals, what therapies and supports she would need to achieve them as well looking at her assistive technology requirements. For many families who are processing a new diagnosis, adding the NDIS to the mix can be a daunting and overwhelming experience. 

“I was really struggling because I just don’t know how to approach it (the NDIS),” Andrea said. “Again Lynette worked with our therapists to understand what Josie really needed. They looked after everything, making we had the right equipment needs covered, what we would need in our home, even thinking about things like toilet training,” Andrea commented. 

“I would have found it difficult to create a plan as detailed as what they did, that covered everything Josie would need.” 

 

Helping children with Rett and rare syndromes 

Josie isn’t the only child with Rett syndrome the Cerebral Palsy Alliance team are supporting. As Josie has reached and exceeded her goals, Andrea has been sharing her experience with other families in similar situations. 

“Cerebral Palsy Alliance is good at helping people with disabilities other than CP for so many reasons,” Andrea acknowledges. 

“They are able to help children living with complex disabilities as they have all the services a person would need. The thing with the team is that they are brilliant at what they do: with therapies, technology, navigating the government system. 

With the high-tech equipment like what Josie needs, there really is no other organisation that does it."

 

Early Childhood Early Intervention 

The first five years of your child’s life are critical in laying the foundations for all areas of learning and development. Introducing carefully designed activities and learning experiences at this time of rapid brain development helps children to form new neural pathways much more readily. 

CPA is a trusted and experienced early childhood intervention service for babies and children diagnosed with a range of neurological and physical disabilities. 

To find out more about our early intervention programs, speak to one our friendly team today. Call 1300 888 378, email or  complete this form.