Nyleta (mother of Connor who has Fragile X syndrome): Connor has started occupational therapy and speech therapy for his fragile X syndrome. He’s also about to have some in-home therapy – just a short, I think six sessions at home. And he’s also been enrolled in a special education playgroup, where he’ll have more of his needs met, in a playgroup environment.
Dr Natalie Silove (developmental paediatrician, Sydney Children’s Hospital Westmead): The development in fragile X syndrome is very disordered. So children develop in speech and language, in their motor skills, in their self-help skills – how they do things for themselves, in their play skills, in their cognitive thinking and their attention skills all at a different rate and a different pace. For that reason, a number of different professionals need to be involved who specialise in each particular developmental area, and that’s why we need a multidisciplinary approach. The therapists are speech and language therapists, occupational therapists, psychologists, and very often physiotherapists or a special educator.
Mary (mother of Will who has Fragile X syndrome): Everyone works together. What you try to do is have everybody working together. You want your therapists to work in conjunction with your teachers, your teachers to work in conjunction with you. Basically it’s got to be a whole team approach.
Nyleta: I think early intervention is the key to having the best outcome. A child with fragile X syndrome has to learn how to do so many things, both socially and physically. Connor’s occupational therapist has really reflected that to us and said that they are seeing better and better results in these kids who are starting early and getting the benefits of all this therapy. We’re only four weeks into therapy with Connor, and I’m already getting tools from therapists on what I should do with him and how I should do them. And I’m seeing results.
Mandy Croft (Senior Occupational Therapist, Sydney Children’s Hospital Westmead): In the beginning stages of therapy, the therapist should be sitting down with the parents and goal-setting together. The goals should be very functional and what the child needs, so whether that’s addressing their sensory processing issues, whether that’s addressing their dressing skills, or their feeding skills.
Natalie: The parents or the carers of the child need to be present at the therapy because the main objective of interaction with the occupational therapist or the speech therapist is to be able to educate and support the parent in how to communicate and how to interact with that child on a daily basis.
Shelley (mother of Brynn who has Fragile X syndrome): I would say to people who are just finding out, or just suspect they might have fragile X syndrome in the family: be open, talk to as many people as you can, and gather as much information as you can. But try not to be overwhelmed by it at the same time. And just keep focusing on the child you’ve got, that is still so beautiful and still a person, and still your child. That puts it back into perspective. Whatever’s going on every day you’ve got this beautiful little person in your life.
Mary: Don’t lock yourself away. Ring the Association because that’s the first thing I did. As soon as Will was diagnosed, the first place I rang was the Fragile X Association. I got the parent help line and from there, it was fantastic, because I met so many people, and all those people had children of different ages and had been through what I will be going through in the future.
Dr Jonathan Cohen (Medical Director and General Practitioner, Fragile X Alliance Clinic): My recommendation to families with an individual – whether it be a child or an adult – with fragile X syndrome is to make sure that they consult with a wide range of people that offer their family member the best options for their life.