Stephanie Nave’s Story
Stephanie is a vivacious, easy-going and happy two-year-old girl. She loves books, drawing and communicating with people. She also likes to “dance”, although her way of dancing is a little different to other girls her age. Stephanie has spinal muscular atrophy (SMA) and can’t stand by herself. So for her, “dancing” involves a slight swinging of her arms and rotating of her torso as she sits and bops her head to the music.
Stephanie was diagnosed with SMA Type 2 at just less than 19 months of age, having failed to meet her gross motor skills milestones at her 18-month check-up. She had not stood, walked or crawled. After recovering from a virus and respiratory tract infection, her previous physical capacity had not returned. She could no longer sit unsupported for extended periods and had even lost her ability to roll over.
The week after Stephanie’s diagnosis, during our first visit to the Royal Children’s Hospital (RCH), we were told by the doctors that had we walked in with this diagnosis even 5 years ago, the course of the disease would have been rather predictable and not in a good way. SMA is a degenerative disease, involving progressive muscle weakening. For someone with SMA Type 2, a limited ability to hold body positions and move around are early symptoms. Over time, the disease affects more of the basic functions most people take for granted, such as breathing and swallowing, and a person’s lifespan may be shortened considerably by the disease.
Fortunately, with Stephanie being diagnosed late in 2016, there were several potential treatments under development or currently undergoing trials, giving hope that the future for Stephanie may not be nearly as bleak. One of the treatments being trialled was Nusinersen. It has now been approved in the USA for the treatment of SMA. We have been told by the medical specialists that Nusinersen is quickly being accepted as the “Standard of Care” internationally. Our great wish is that it will soon be available through the Pharmaceutical Benefits Scheme (PBS) as a treatment in Australia, so that children like Stephanie can live longer lives, make the most of their talents and weave their contribution to the rich tapestry of this country.
People with SMA have no cognitive impairment are often very articulate. SMA sufferers across the world have been influential in the arts, science and law and as powerful advocates for people with disabilities. Some people with SMA Type 2 have lived long and highly productive lives despite the challenges associated with the disease. Others have had much shorter and more heavily restricted lives. For Stephanie, treatment with Nusinersen could well be the difference between these two outcomes.
Stephanie has been assessed by her physiotherapist at the RCH as a weaker Type 2. Her respiratory physician has told us that, without access to Nusinersen or other treatments currently being developed, she is likely to need to start using a respiratory machine around late primary school, initially at night, and then also for time during the day as the disease progresses during her high school years. Her neurologist has told us that treatment with Nusinersen may allow an SMA sufferer’s functional abilities to follow a trajectory around half a type higher – in Stephanie’s case, a trajectory previously associated with a strong Type 2. The difference this would make to her future is profound. Nusinersen may give Stephanie the chance to live a long and fulfilling life and realise her potential to become a valuable contributor to society.
With no treatments available for Stephanie at the time of her diagnosis, our focus has been on maximising her potential via physio-, hydro- and occupational therapy. Our daily routine includes a home physio program, as well as occupational therapy built into most of her activities. Stephanie even asks to do her “exercises” in the morning after breakfast and asks to put on her socks, shoes and “boots” (ankle foot orthoses) because she finds it such a positive experience. (Watching “Hey Duggee” on the TV while she does her exercises may be a potent motivator as this is usually her only TV time.) She does hydrotherapy twice most weeks and loves going “swimming”. A lot of her gains with the land-based physio have been made by her first working out how to move in the water where the weightlessness helps her. Her schedule and work ethic is such that were she able bodied, she would probably be on track to be an elite athlete! She has re-acquired the ability to roll over and can sit for much longer periods. She can hold a kneeling position with the right support and even a standing position if her ankles, knees and hips are all held in the correct alignment. Having made rapid progress during the first few months after commencing her therapy programs, gains in strength and endurance seem recently to have plateaued. We hope that this is a temporary hiatus, rather than a sign of things to come, with the progressing disease taking its toll and the challenge to her muscles increasing as her body grows.
Sometimes, it is easy to forget that Stephanie has a disability. Reading her books, playing games with her and pushing her on the swing at the park are some of the happiest moments of our lives. She loves Julia Donaldson books and already recites parts of them from memory. She’s obsessed with counting and calls out numbers wherever she sees them – on number plates of cars, barcodes on products and even on the tarmac at the airport. She also has a knack for communication, managing to motivate other children her age to get toys for her, even those that refuse to share with other children! Stephanie has a radiance that brings joy to those she meets. Complete strangers have approached us to have photos with her because they felt she has something special. Others have told us that she has a special energy (even before we knew that she has SMA).
When we think about her future, feelings of hope are mixed with feelings of apprehension. We remain optimistic and have already seen her steadfast efforts with a good physical therapy program pay off with progress that amazed her doctors and therapists. Nevertheless, every growth spurt is met by concerns that as her limbs get longer and her body gets bigger her muscles will struggle to cope. Every sniffle and cough is met by fear that a respiratory illness will take hold and cause another regression. It feels like she’s caught beneath an upturned boat, unable to escape, with a limited amount of air. Will she be rescued by the availability of a treatment before the air runs out? At her time of life, each growth spurt should be met with joy as new milestones are reached and surpassed. Making Nusinersen available in Australia will provide fresh hope that Stephanie’s future can be one of rising to meet new challenges rather than one of regressions and palliative care. Will access to Nusinersen enable her to emerge from beneath the upturned boat to a future where she can follow her dreams?