Early intervention with SMA is vital. It’s a rare genetic disease caused by a mutation in the survival motor neuron gene and usually leads to paralysis and breathing difficulties. Until recently, children diagnosed with SMA Type 1 rarely lived past their second birthday. Now, a new gene therapy treatment is giving life back to children like Winnie, and hope back to their families.

“At first, Winnie was treated with Spinraza which involves lumbar puncture injections every 4 months. When Winnie was 15-months-old we were given a government grant for a one-time treatment called Zolgensma and since receiving it our outlook has completely changed.

“Previously, I didn’t think about the future because I was just focused on getting to the next milestone. Now she has had Zolgensma we can see the gains she has made with her strength and physiotherapy and we are positive that this will continue” said Lucy.

During a session with Montrose Physiotherapist Isabella (pictured), Winnie’s huge personality is on display. She is confident, independent, and determined to complete activities by herself and at her own pace. At one stage, she even demands that Isabella lets her sit unassisted on an exercise ball!

At Winnie’s age, therapy is all about play while carefully practicing physical movement and gross motor skills. Through a series of age-appropriate activities Isabella ensures Winnie works on her ability to stand, walk and kneel.

Getting therapy as early as possible can help reduce the impact of SMA by maximising developmental progress while limiting development of contractures (permanent shortening of muscles leading to deformity). Montrose is one of the leading providers of therapy for children with SMA in Queensland.

As well as Physiotherapy and regular Hydrotherapy, Winnie also sees a Montrose Occupational Therapist. Montrose has recently supported Winnie’s equipment needs, securing her a manual and power wheelchair, and loaning equipment to her kindergarten.

“Winnie is now crawling which we never expected her to do, she’s standing and she’s taking steps! Her progress is better than we could have ever imagined and it would not have been possible without the right guidance and support. It really has been life changing for us!”

Although Winnie has made great progress, her journey hasn’t always been easy. At one stage, her NDIS plan ran out and the family faced ceasing therapy altogether. This is where Montrose stepped in – continuing therapy sessions at no cost to the family.

“Montrose allowed us to continue our weekly sessions as opposed to stopping or being cut down to monthly. This was a lifeline and allowed us to maintain Winnie’s progress” she said.

Isabella said “Children with SMA are at risk of function regression, so it is important to bridge the funding gap so that the family can remain connected with their therapy team and continue working on their goals.”

Despite the watch and wait nature of the gene therapy, Winnie’s family is excited for the future as they know Montrose will be there to support them along the way.

“We never thought we would see school days but now we are looking towards prep and discussing with our Physiotherapist and Occupational Therapist what equipment we will need for school,” she said.

“The hospital will always be the first point of direction when it comes to Winnie’s health but the second place I go to for guidance and support is Montrose,” Lucy concludes.