From the moment Jacob was born, his family knew him to be incredibly ‘chilled’ and ‘relaxed’. But it wasn’t until a six-week check- up that they realised this beloved nature could be a cause for concern.
Jacob’s lack of movement and what mum, Brooke, describes as ‘floppiness,’ resulted in their general practitioner (GP) taking immediate action.
“We were originally diagnosed with low vitamin D, which apparently can cause muscle weakness. We then went back to the paediatrician two weeks later and she wasn’t seeing any improvement, so she performed genetic testing,” Brooke explained.
From there, it wasn’t long until Brooke received a call saying that their little boy had spinal muscular atrophy (SMA) type 1, a rare genetic condition affecting the motor neurons of the spinal cord, causing muscle weakness, damage, wasting (atrophy) and eventual loss of function.
“Our GP rang me on a Tuesday. She told us it was SMA and that we were going to the RCH tomorrow. And so, within 24 hours, we were at the RCH for our first appointment at the RCH Neuromuscular Clinic,” Brooke shared.
This was an extremely difficult time for Brooke and her family as they struggled to come to terms with what the diagnosis meant for little Jacob. As they faced countless unknowns, Brooke couldn’t help but break down the moment they arrived.
“Everything was so overwhelming. I was crying and we still had no idea what was going on. Once we met the doctor, however, we felt things weren’t going to be as bad as we initially thought,” Brooke shared.
Jacob’s journey with the RCH does not just end with the Neuromuscular Clinic. Since his diagnosis, he has been treated in the hospital’s day medical centre, undergone multiple surgeries and more.
Fortunately, the toddler was also able to access the transformative gene therapy at the RCH last year, drastically changing his quality of life.
“The biggest thing we used to focus on was survival and keeping Jacob alive. Now we’re aiming to get Jacob to walk, which wasn’t even a thought for kids with SMA 10 years ago,” Brooke said.
Today the family are incredibly optimistic about Jacob’s future. He is spending even more time outside the hospital, and Brooke is proud to say that life-changing care is giving Jacob the best start to life.
At just two years old, Jacob has already experienced the impact of philanthropy. From life-saving equipment to ground-breaking research, every day countless of children just like him have been able to receive the care they need to thrive thanks to your support.
The RCH Neuromuscular Clinic
The RCH’s Neuromuscular Clinic provides dedicated care to around 600 children like Jacob each year. This philanthropically funded program is now the biggest multidisciplinary clinic at the hospital.
Dr Eppie Yiu is a paediatric neurologist and the lead of the clinic. In her role, Eppie ensures that children like Jacob can receive not just excellent but also holistic clinical care.
Eppie Yiu
“It is really important to understand the impact of a chronic neuromuscular disorder on not only the child, but also the family. Our clinic has supported these families since 2008 and we have seen the treatment landscape and outcomes transform over this time,” Eppie shared.
The clinic prides itself on developing a model of support that reflects how families feel their needs could be best met. For Brooke and Jacob, this has meant personalised and consistent care.
“There’s so many times Jacob and I have been to a doctor, and it’s felt very clinical whereas when you go to the RCH Neuromuscular Clinic and there’s none of those aspects – it just feels so familiar and friendly,” Brooke explained.
“Sometimes, when we’re at the clinic, we’ll have a conversation and it’s just about life, not necessarily about what’s going on and all the negative stuff that comes with SMA,” she continued.
The RCH’s Neuromuscular Clinic operates every Wednesday, allowing patients to see up to six specialists in a single afternoon. This saves families from travelling back and forth for separate appointments.
“We are one of the lucky ones – we don’t live that far away. But being able to go in on a single day and get all our appointments done made a huge difference especially early on when we were at the hospital every couple of days,” Brooke shared.
Throughout their journey with the RCH Neuromuscular Clinic, Brooke has felt nothing but grateful for the relationships they have fostered, and the excellent, holistic care received.
“The nurses and clinicians really consider that they are not just looking after the child, that they’re looking after the parents as well,” Brooke said.
The RCH Neuromuscular Clinic is supported by Pizmony Family Foundation, Muscular Dystrophy Australia, The Orloff Family Foundation and KY Enterprises (Chi Lu).
The RCH Neuromuscular Fellowship
Meet Briana Davis, one of this year’s RCH Neuromuscular Fellows. Thanks to philanthropy, Briana is one of five clinicians who have been given the opportunity to advance their skillset and provide excellent care to children like Jacob.
“The Neuromuscular Fellowship role at the RCH is quite unique. It has a really great team environment and collaborative approach. It also sees the child in a holistic way and doesn’t look to just manage the medical problem but the child and family as a whole,” Briana shared.
Operating as part of the RCH’s Neuromuscular Clinic, Briana has been able to work with up to 18 different clinicians each shift, which she describes as ‘inspiring’. She has also been incredibly involved in gene therapies in the hopes of revolutionising care for children with a variety of neuromuscular conditions including SMA.
“In my fellowship, I’ve been involved in some of the therapeutic trials and that’s something I hope to take from my training back to South Australia. So, I think the fellowship is beneficial and far-reaching – beyond the children of Victoria,” Briana said.
Briana Davis
According to Briana, this is ‘the age of advanced therapeutics and gene therapy’. While she has always been passionate about helping children, she has found it profoundly impactful to see this life-changing therapy give so many hope.
“One of the things I love about treating neuromuscular conditions is following people particularly when they receive disease modifying therapies and seeing them get better, stronger. Seeing the possibilities in this role has been really rewarding,” she added.
The RCH Neuromuscular Fellowship is supported by Live Life Foundation and The Orloff Family Foundation.
The Hugh Williamson Gait Laboratory
RCH patient Jackson and physiotherapist Sarah in the Hugh Williamson Gait Analysis Laboratory
The Hugh Williamson Gait Laboratory is a world leader in walking disorders for children. Supported by the RCH Foundation, the lab features an innovative three-dimensional motion capture system and high-definition cameras that help capture movement.
As described by Pam Thomason, a senior physiotherapist and manager of the lab, this equipment is being used to ‘measure how children walk’, through three-dimensional gait analysis.
“The gait analysis team, which consists of physios and biomedical engineers, analyse the data through the computer and then we put it all together with our physical measurements,” Pam explained.
This laboratory plays a crucial role in the long- term rehabilitation and care of patients like Jacob, but especially those with neurodevelopmental disabilities like cerebral palsy, spina bifida,
and more.
The work performed by the team at the Gait Laboratory is challenging, but incredibly powerful. It provides personalised care to around 550 patients each year, ensuring that children with numerous walking conditions can thrive.
“Every child we assess is different, so you have to look at the data and marry it up with what the child does and what’s important for them and what their goals are in life so everything that we do is different for each child,” Pam said.
“This work makes a real difference to the lives of children that we see and also to the children we have yet to see,” she continued.
Gait Assessment Tool in the Neuromuscular Clinic
Physiotherapists, Kate and Katy, with the philanthropically funded gait mat.
Thanks to philanthropy, a new, world-class gait assessment tool has been purchased for the RCH Neuromuscular Clinic. This piece of equipment is making a life-changing impact on children with neuromuscular conditions, like Jacob, every single week.
“This gait mat allows us to objectively measure walking in children and track their progress over time. It allows us to compare their performance to children who don’t have a neuromuscular condition,” Kate Carroll, Senior Clinician and Research Physiotherapist at the RCH Neuromuscular Clinic, explained.
In order to track and measure a number of important gait parameters, children are asked
to walk on the brand-new mat. From there, the tool can calculate things like step length, speed, symmetry and more.
“All physios assess gait all the time. But usually, you do it by just watching a child walk up and down the corridor and you might measure how fast they can go. This tool gives us a whole extra level of information,” Kate explained.
As the calculations are performed on a computer, Kate can share findings with patient families in real time, providing extremely personalised and family- centred care. Critically, this tool is also portable and readily accessible, ensuring children from the RCH Neuromuscular Clinic have access to the care they need, as they need it.
“We can roll the mat out in the corridor, turn it on, add a child to the database and collect the data straight away. This gives us a quick snapshot of information within the constraints of a busy clinic,” Kate shared.
Looking forward, Kate is incredibly optimistic about the gait tool’s findings and its ability to advance healthcare for children like Jacob – now and for generations to come.
“Children who have undergone gene therapy for SMA are forging a new path and this is resulting in a new natural history that we need to learn and understand,” Kate shared.
“Using the gait mat can help provide a really detailed level of information about walking in these children and what’s the new normal,” she added.
Jacob’s mother, Brooke, is excited to know that her son could one day explore the world independently thanks to gene therapy and tools like the gait
mat. Each assessment, piece of equipment and personalised treatment plan can bring Jacob
closer to exploring the outdoors on his own and provide the toddler the chance to tap into his adventurous spirit.
Kate is incredibly grateful to the RCH Foundation for helping fund this latest piece of equipment. From research to measuring progress, this tool
is ensuring that children with neuromuscular conditions are able to thrive.
The Gait Assessment Tool in the Neuromuscular Clinic is supported by the Orloff Family Foundation and the Hugh Williamson Foundation.