Hope on the horizon
Imagine your child is showing symptoms that confound doctors.
You see expert after expert, getting test after test.
Perhaps you’re even scoffed at along the way, however, you persevere because your instincts as a parent are screaming at you that something is not right with your child and you know early interventions produce the best outcomes.
Finally, a doctor manages to distinguish the problem. Global developmental delay. You spend every waking hour researching it and where to get the right help for your child’s needs.
Then another specialist notes that the symptoms better reflect cerebral palsy and you start coming to terms with the new diagnosis.
You find support groups and connect with other families who have children living with the same condition and your dark outlook begins to brighten.
Then genetic testing confirms your child has a rare disease. Even worse, you learn it’s progressive and remorseless in its impact and there are no treatment options so the future is uncertain. You just need to wait, the specialist explains, until the science improves.
This is the kind of diagnostic odyssey that few can imagine unless they are among the two million or so Australians blighted by a rare disease.
The tragedy of these diseases is compounded by the fact babies and children are mostly affected, given roughly 80 per cent are genetic in origin.
The other 20 per cent are mostly attributed to cancers, infections and to autoimmune disorders.
Nicole Millis, CEO of Rare Voices Australia (RVA) and mother of a 19-year-old son with Hunter syndrome, says the impact on families and people living with a rare disease is profound and often deeply traumatic.
Even though relatively few people have the same rare disease, she explains, there are so many overlaps in their journeys such as misdiagnosis after misdiagnosis and financial hardship due to the mounting costs of medical appointments and therapies.
Treatments also tend to be hard to come by, although some may be able to find a drug that is already on the market for another condition or track down a clinical trial to participate in.
Ms Millis says doctors regularly miss these diseases in patients because they are unlikely to see more than a couple of cases, if any, in their entire careers.
An Australian study revealed 30 per cent of Australian adults living with a rare disease are impacted by a diagnostic delay of more than five years, while almost half have received at least one incorrect diagnosis.
“Diagnosis is important because it is really a gatekeeper to the best care because once you have a diagnosis you can see the right clinical experts and potentially be involved in research and a clinical trial or if there is a treatment available, you can access that,” explains Ms Millis.
Another problem is data for most rare diseases is not captured in either health information systems or registries and there is no co-ordinated strategy in Australia to collect, measure, build and translate data that does exist, she adds.
RVA, which formed in 2012, has since lobbied Commonwealth and State governments to invest in creating greater awareness of rare diseases so that patients can access more responsive and tailored services.
This led to the launch of the National Strategic Action Plan for Rare Diseases in February this year with a $3.3 million injection by the Morrison Government – a victory for the rare disease sector.
Investment in the rare disease sector is important, says Ms Millis, because even though the individual diseases themselves are rare, the number of people around the world living with them is not.
The action plan was set up to make it easier for people to navigate through the health, education and care labyrinth and in turn boost the wellbeing of patients and their families.
She says until now families have been left to muddle their way through the system but the action plan seeks to create investment in systems, research and centres of excellence that can provide co-ordinated care. In fact, the WA Government has really pushed ahead with this, she added.
“The aim is to harness the strengths that we already have in the rare disease sector because there are already lots of amazing researchers, clinicians and families,” Ms Millis adds.
More at rarevoices.org.au
Did you know?
A rare disease is one that affects less than five in 10,000 people. There are more than 7000 different rare diseases.
Rebecca Benson’s son Fletcher, 12, from Maylands, has epidermolysis bullosa (EB), a rare genetic disease that causes fragile skin:
When Fletcher was born he seemed fine but after a few months we started noticing he was getting blisters on his chin, neck and on the back of his head.
A paediatric dermatologist confirmed the diagnosis.
Fletcher would get blistering all along his nappy line because the slightest friction caused blisters and infection is a real risk. When he started drawing and colouring in he would get blisters on his fingers. Thankfully, Fletcher is on the more mild end of the spectrum so he has a normal life expectancy.
At the more extreme end, children die in infancy or spend hours a day being bandaged. Even if a friend brushes against them they can blister which is why children with EB are often referred to as butterfly children — their skin is fragile like butterfly wings.
The most difficult aspect when Fletcher was younger was having to lance his blisters with surgical scissors or a razor blade which was very painful and traumatic for both of us. They fill up with fluid and become very big and painful and I’d need to cut them to relieve the pressure until he was old enough at age seven to do it himself.
Clothing has been an ongoing process of trial and error because we have to be very careful with what he wears.
In terms of managing Fletcher’s EB, the breakthrough moment was contacting an EB nurse through DEBRA, who gave us advice about dressings, shoes, and the National EB Dressings Scheme (NEBDS), where we can access specialised dressings. Having this support service was a ‘game changer’ and I remember being in tears after that first conversation with the nurse because I could finally talk to someone who understood and who could give us what we felt like was a road map to help us manage.
Now his condition is mainly localised to his feet but everything he does involves a trade-off.
He wanted to participate in his school athletics day but his feet were so bad after that he could not walk and he needed the next three days off school.
After school camp he needed a week off because his skin was so blistered.
Now that he is older, he doesn’t want to be the kid who has to sit out — he wants to do things but it causes so much pain afterwards so it’s a balancing act.
As a little kid he was stoic and positive and he still never mopes and I admire him for not always taking the easy road when he could.
He can’t play contact sports so now we are trying to find a niche for him — swimming has been great.
I know there is lots of research going on into healing gels and creams but so far there has been no silver bullet to help treat Fletcher.
More at debra.org.au
- As told to reporter Katie Hampson
Kane and Sarah Blackman, from West Leederville, have a son Finn, 6, with Angelman syndrome. Sarah describes their journey:
When Finn was born, he struggled to feed properly so I went to a feeding clinic with him at PMH.
I was a new mum so I thought he was just having difficulty latching like so many babies do but now we realise that was the earliest sign that he was delayed in his abilities.
He also had a lot of reflux and vomiting but that is also common among babies. When he was 15 months we got that under control after seeing an immunologist and because he wasn’t vomiting every two to three hours anymore, we felt we could breathe again.
That’s when we realised he hadn’t started babbling and speaking, even though he was bright and engaging and laughing appropriately. We took Finn to a speech pathologist who recommended a paediatrician. We were told things like, ‘boys are slower at developing, he’ll catch up, don’t worry.’ We said we felt like something serious might be going on but were told we were overly anxious.
He was given a diagnosis of global developmental delay and we were told he could catch up. Still, we decided to see a neurologist who called it cerebral palsy so we grieved and looked into that and imagined that future. Finally, genetic testing was done, at our instigation, and it revealed Finn, who was now age two, had a rare disease called Angelman syndrome. Just three children in Australia had his form of it. The geneticist called us on a Friday and told us over the phone. She said it means he is never going to speak, he may not walk, he is going to have an intellectual disability and seizures and he will need lifelong care. Then she said to go and google it.
It is was a massive trauma and at the centre of it was our beautiful boy. We wanted to give him the best chance of independence so financially we went backwards so that we could continue with all of his early interventions such as physiotherapy, speech, occupational and behavioural therapy. We were so excited to learn there was research happening for a cure for Angelman syndrome in the United States so we have fundraised for the cure and still hold hope that there will be a trial in Australia that we can participate in.
When you have a child with a rare disease, you will be sitting in front of doctors who have never heard of it and who will google the disease in your presence and then look to you for direction a lot of the time. These families have to become the expert in their child’s disease, even though they were never trained in medicine, education, seizure management and advocacy. We are now on disability and rare disease boards, advisory committees and coaching other families and we will continue to do whatever it takes to make a better future for everybody and also for Finn because we love him so much.
Finn is just so gorgeous, empathetic and sensitive. He loves swimming and riding his trike. Our favourite times with him are when he can be exactly as he is and we don’t have to correct his behaviours or be his doctor, speech therapist and physiotherapist. We can just be his mum and dad.
- As told to reporter Katie Hampson
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