Rare Care Centre, funded by donors including Telethon, making difference for kids with rare diseases

Katie Berry remembers vividly the day she was told her eldest daughter Ava, then seven, had a rare disease. She remembers the phone call. The appointment with a geneticist. The diagnosis of a mutation on the GNAS gene, one of only about two cases of its kind in Australia. She remembers the relief of finally having an answer, mixed with confusion, and fear for her child’s future. Doctors had known something was going on with Ava since Katie’s 20-week scan, which showed the baby wasn’t growing as expected. A slew of tests yielded no answers — a theme that would continue for years, through Ava’s premature birth and stint in hospital, through surgery to address sleep apnoea, through concerns about her growth and Katie’s agonising over hormone treatment. When a full genetics panel turned up the mutation, she felt they were at least on the right path. But the difficulties of navigating the health system, including further diagnoses of ADHD and autism, was overwhelming. Katie often felt isolated and alone. “We were just trying to understand it all but it can be really challenging, constantly going through all that, and also looking after Ava’s mental health,” she says. “We’re seeing so many different doctors and specialists and I feel like I’m constantly reminding people of what’s going on.” Then six months ago, Ava’s paediatrician put them in touch with the Rare Care Centre — a world-leading organisation based at Perth Children’s Hospital. It was set up in July last year with $10 million from the McCusker Charitable Foundation via the Channel 7 Telethon Trust, the Angela Wright Bennett Foundation, the Stan Perron Charitable Foundation and the Perth Children’s Hospital Foundation, via a significant contribution from Mineral Resources. The centre’s team, which includes nurses, a geneticist, paediatrician, GP, psychologist, teacher and an NDIS specialist among others, swung into action. They worked with Ava’s school to organise an education assistant and a plan to support her learning. They helped Katie navigate NDIS paperwork, and connected her with a global support group of other families. They answered her questions about Ava’s condition and when they couldn’t, they set up a specialist appointment and briefed the doctor in advance. “It was just a weight off my shoulders,” Katie says, as Ava, a bright, bubbly ten-year-old, plays with her little sister, Lexi. “It can be as simple as just having someone you can ask a question, and I feel like they have connections that they needed to have. They conversed with our endocrinologist, whereas for me, as a mum, I can’t talk to her until I have an appointment. “The best way I can describe it is that you feel like you have someone in your corner.” Comments like that are music to the ears of Professor Gareth Baynam, a clinical geneticist and the centre’s medical director. He has been a passionate advocate for children with rare diseases for much of his career, working to build on WA’s reputation as a leader in the field. Some of the numbers around rare diseases are startling. They are one of the biggest killers of children, responsible for some 60 per cent of childhood deaths in developed countries. They are 1.5 times more costly to the health system as everything else combined, according to a US study, thanks in part to the complicated road to diagnosis, which takes an average of five to seven years. More than half of rare disease patients are seeing up to ten clinicians. And although rare diseases, by definition, are not individually prevalent, there are 8000 of them — which means there are more than 300 million people affected worldwide. To put it in perspective, Professor Baynam says, consider the 60,000-seat Optus Stadium. Imagine the place is packed, full to the brim of the 63,000 children in WA who have a rare disease. Half those children, despite living with symptoms, cannot get a diagnosis, because the technology is simply unable to provide one yet. In only about five per cent of cases — about 3150 of those kids in the stadium — will there be a drug to treat them. “You see these families and these children, and you see the struggles that they go through. It’s terrible, but it is also inspiring in that they teach you about life, and about what’s important,” Professor Baynam says. “That really is a privilege. So you have this dual motivator of this enormous unmet need, and this incredible privilege.” But there is momentum, too, he says: “a convergence of the global community, of technology, of science, of clinicians and families that have transformed the domain.” When he started in the field, a genetic test would yield an answer in about 7-9 per cent of cases; that is now at 50-60 per cent. “It’s moving fast, although never fast enough for families,” he says. “So the question then becomes . . . what’s next? How do we best help families after they’ve got a diagnosis, or whilst they’re still waiting? How can we help them across all their lives, because it’s not just about health care.” Professor Baynam cites a US study that found that only 16 per cent of a patient’s quality of life can be attributed to good clinical care. “The rest is everything else — it’s education, and social services, and community and it’s welfare and artistic experiences, all those things,” he says. “Our services have to reflect that, because that is such a massive impact. That was the birth of the Rare Care Centre.” The centre, co-directed with senior nurse leader Sue Baker, employs professionals across those “crosscutter” sectors that impact the lives of children with rare diseases. Having all those people in one place simplifies access to services in a way that dramatically reduces both the time it takes and the stress on families, Professor Baynam says. “The secret sauce is in that connection between systems,” he says. “They can be difficult to navigate, let alone when you are completely overwhelmed with your child’s condition and your daily life. Parents just want to be parents first, and what we can do is help them do that. That’s the crux of it. We can help parents be parents first and children be children first.” For Amanda Gilpin, the centre is a welcome additional support that she wished had been around earlier. The first small signs something was amiss with her daughter Hollie didn’t come until the happy, active little girl hit kindergarten. An educator mentioned Hollie seemed to be having trouble cutting in a straight line. She sometimes appeared to ignore her parents when they spoke to her. She always seemed tired, no matter how much she slept. Over almost two years, Amanda and her husband Craig pushed for answers — eye exams and hearing tests, a sleep study and adenoid surgery — as Hollie’s development seemed to slow. Eventually an EEG and then an MRI revealed major abnormalities that led to genetic testing. After three months, Amanda says, “we got the answers we didn’t want to hear, and our lives changed forever”. Hollie was diagnosed one of the rarest forms of Batten disease, a group of rare, fatal neurodegenerative disorders that fall under the umbrella of childhood dementia. She is one of only two children in Australia with her condition. “It was a time in our lives I will never forget,” Amanda says. “You get good at putting on a fake face and pretending life is normal when it’s completely not . . . You’re trying to function when you’re not functioning at all and barely able to get out of bed each day, while you’re processing and coming to terms with something like this.” And despite the support of friends and of faraway family, she had never felt so lonely. The family was based in Karratha, and Hollie and Amanda would travel to Perth for appointments often. “I remember having a few hospital presentations early on and I would say what she’d been diagnosed with, and you just see that blank face,” she remembers. “It made you feel very lonely and very isolated.” The Rare Care Centre didn’t exist when Hollie, now eight, was diagnosed, but respite came via Batten Disease Support and Research Australia, a group founded by parents to help families, fund research and boost awareness. Amanda admits it took her some time for her “to be in the headspace to reach out to them, because I think it made everything real”. “They’ve been an incredible, incredible support to us,” she says. “They were what Rare Care would have been for us at that time.” But the Rare Care Centre was there to help Amanda, Craig, Hollie and her sister Maddison when they moved back to Albany this year, to be closer to family and cooler weather. “When you’re moving a medically complex child, I knew it would be challenging but I didn’t realise how challenging and all the elements you need to take into consideration,” Amanda says. The centre’s team created visual summaries of Batten disease to guide anyone coming into “Team Hollie”. They liaised with the school and attended meetings to help organise Hollie’s transfer, including the equipment she needs. They helped find a GP interested in rare diseases and willing to support Hollie and her family, and connected them with local specialists. Amid the family’s struggle, and in between investigating a potential trial treatment for Hollie in the US, Amanda has also become an advocate for raising awareness for Batten disease, and rare diseases more broadly. “We’ve become quite passionate about that side of things — advocating for those families — because while your individual disease is very rare, you’re from a big family of rare diseases that seem to get overlooked,” she says. “People don’t know they exist, or they don’t realise there are so many conditions . . . But the problem is, unless you raise the awareness, then the funding doesn’t happen. “The biggest driver for us is that this journey is very emotional and challenging. It’s every day, and we don’t want it to be for nothing. We want Hollie’s journey to be for something. If help doesn’t come in time for our family, we want it to help other families so they don’t have to go through this. “If we can use this devastating road that we’re on to help others, that gives us a lot of peace. If we can take the pain away or help ease the pain from even one other family, it was worth it.” Professor Baynam agrees that increasing awareness is crucial to a better outcome for people with rare diseases. “Imagine you’re going through the medical system, knowing something is wrong and not being able to get an answer, and having no way to communicate that to your school, to your friends, to your family,” he says. “Many times the parents get blamed, or told it’s all in their head. “It really does come down to awareness. This is the terrible journey that people face — half the time they get misdiagnosed, so that sends them down completely the wrong path. Some might see anywhere up to 10, 15 specialists on their way to their diagnosis. “For many of these children, their condition will affect multiple systems — their brains, their kidneys, their growth — so one of the biggest red flags is, if you have a child with a multisystem disorder, there is a really good chance there is an underlying rare disease. “Some of those flags are really very, very simple, but it’s about getting them out there in the minds of professionals in all sectors.” Using the Optus Stadium analogy, Professor Baynam says a lack of awareness about a rare disease means a huge number of people never even make it to the stadium. The more people know the signs, the more pathways there are, it’s the equivalent of “lots of different buses going back and forth and a walkway and a train and somewhere to park your car”. Awareness is also key to funding research into new treatments (rare disease drug development often also has wider benefits, he says, including finding wonder drugs such as statins). Professor Baynam points out that rare diseases are simply a collection of conditions that share common features — in the same way cancer is — but are nowhere near as well known. “In a lot of ways, it’s like we’re in the position that cancer was 40 years ago,” he says. “Only one in 20 people with a rare disease have a specific treatment. Can you imagine if you said, OK this is cancer, but we don’t have anything for 95 per cent of it? People would be marching in the streets. “That’s the situation we find ourselves in now. But there’s enormous hope, because the rate of new drug discovery is increasing rapidly.” Just over a year after setting up the centre, Professor Baynam says its key goals for the future (it is funded for five years) include building local capacity for paediatric rare disease research so families can access trials without having to travel; establishing a remote hub in WA’s north and boosting the centre’s reach into regional, Indigenous and culturally and linguistically diverse groups; strengthening its global links; developing better family support programs; bolstering the nursing workforce; and improving access to medical devices. But its focus remains squarely on the families in its care. “Someone from our very first family said, ‘I have hope now’,” he says. “That’s incredibly powerful and again, there’s a sense of responsibility, because we can’t let you down. “These can be really life-changing things. When you change people’s circumstances, whether through better education, a better NDIS package or better mental health treatment, whatever it is, you see things like families who once said, ‘Look, I don’t think we can have another child, we’re just not in the mental or emotional social space to do it’ now saying, ‘we can’. That’s huge. “It’s those impacts that really keep driving us to continue to improve.” For Katie Berry and Amanda Gilpin, both are intent on making their daughters’ lives as full as they can. “I don’t want this to define Ava,” Katie says of Ava, who persevered to learn to ride a bike and has an incredible recall of movie dialogue. “I want it to be something that just pushes her forward. She’s got something that might make it a little bit harder but hey, she’ll find a way around it.” And in their new home in Albany, the Gilpins are starting to plan for Hollie’s ninth birthday in early December. As Amanda explains, they go all out for birthdays now; one of Hollie’s recent parties was Grease-themed for one of her favourite movies. “Every day is different . . . There are ups and downs all the time, but she’s still laughing,” Amanda says. “She’s still our cheeky little monkey who brings everyone a lot of joy in amongst all the challenging times. It’s special to have all that family around again, so we can all make some memories together. Because at the end of the day, it’s all about making memories.” Read more about the Rare Care Centre at pch.health.wa.gov.au/Our-services/Rare-Care-Centre. To donate to Telethon, visit www.telethon7.com.