By Heather Renton & Rebekah Devlin
Despite widespread medical advances, children with a rare disease often never receive a diagnosis. Syndromes Without A Name is there to offer help.
Syndromes Without A Name (SWAN) Australia is the only organisation that provides information, support, connection and systemic advocacy for these families.
“Rare isn’t that rare,” says Professor Sue White, clinical geneticist at not-for-profit specialist laboratory, Victorian Clinical Genetics Services.
“Collectively, the impact of rare diseases is similar to the impact of diabetes.”
It is estimated that 2 million Australians are living with a rare disease, many of which have no cure or treatments available.
SOMETIMES THERE ARE NO ANSWERS
Sadly, of the children who present to a geneticist, only 30-50 per cent will receive a diagnosis. This is an especially difficult figure to take in if the child has a progressive or life-limiting condition.
Professor White says while there have been substantial leaps forward in genetic testing, there is still so much that is unknown.
“One of the reasons it is so difficult to diagnose children with rare genetic conditions is that there are many ways DNA can be altered, and even the best and newest tests cannot detect all DNA alterations,” she says.
“Currently, we understand the disease associations of only around 5000 of our 20,000 genes, which means that we have a lot still to learn about what the consequences are if there is change in one of the 15,000 genes we don’t know much about.
“Sometimes children have more than one genetic condition, making them very difficult to diagnose as they may have a blend of different symptoms.”
And not all children with unexplained health or developmental issues will have a genetic cause.
“It can be very difficult for families to comprehend that despite access to cutting-edge technologies, sometimes the answer can’t be found,” she says.
SWAN chief executive officer, Heather Renton, says “not knowing” can weigh heavily on families.
“We know it can be incredibly isolating and frightening when you don’t know why your child is not developing the way you expect. Not having a diagnosis raises a lot of questions and concerns. It can be an anxious time, and many parents would have many questions such as ‘Will my child ever walk or talk?’. ‘Will their seizures ever be under control?’. ‘Did we
pass the condition on to our child?’. ‘Is there a cure or treatment?’. Or ‘Is it a progressive condition?’,” she says.
The lack of diagnosis also limits a family’s access to support groups, information about what the future holds, reproductive choices, and options for clinical trials.
RECEIVING A DIAGNOSIS
When families do finally get a diagnosis, the emotions are varied, and numerous.
“It can be overwhelming, a sense of relief or heartbreaking,” Heather says. “A diagnosis can take time to process. However, it can lead to a better understanding of your child, provide opportunities to access better treatments and targeted therapies, and can give you a glimpse of what the future might hold.”
“You may be able to contribute to research or learn from existing research. One of the biggest benefits can be the connection and support you can gain from others who have children with the same genetic condition.”
SWAN supports researchers on many projects in the hope it leads to better outcomes and that they too can advocate for families around treatments and clinical trials. SWAN engages in systemic advocacy and provides a public voice for families, campaigning on a range of issues, politically, and within the health, disability and education settings so that there are improved pathways to enable children to thrive. They also advocate for improved and equitable access to genetic/genomic testing, so that more families can have the opportunity to get a diagnosis for their child.
REDUCING THE ISOLATION
Nobody understands the concerns parents face better than another SWAN family experiencing similar circumstances. The organisation aims to decrease the isolation and emotional strain of raising a child with health conditions and/or disability by helping families connect with one another for support.
SWAN regularly searches their database to match families and carers who have children with the same or similar conditions, or those who care for a child of a similar age and live in a similar region. In addition to emotional support, families often share information, coping strategies, medication and therapy experiences, adding to the pool of knowledge on these rare conditions.
SWAN hosts parent information sessions, peer support events and social networking opportunities where families can form lifelong bonds. These include face-to-face events such as family morning teas, virtual events, a siblings group and a bereaved parents group.
With around 60 per cent of children with an undiagnosed or rare disease admitted to hospital at least once a year, SWAN also supports families through their hospital
care packs program. The program is designed to make hospital stays a little more comfortable for families and is a practical way to show that people care in what is often a very stressful time.
SWAN’S WISHLIST
Heather says SWAN families want equal access to genetic and genomic tests, leading to an accurate diagnosis for their child, with faster turnaround times. Currently, access to genomic tests varies across Australia due to funding differences from state to state and within individual hospitals.
While some children are eligible for Medicare-base funding for genomic tests, uptake of paediatricians ordering these tests has been slow. There are many reasons for this including paediatricians becoming familiar with test ordering processes, awareness of test options and confidence organising what is a complex test.
SWAN is currently fundraising $50,000 to employ a genetic counsellor to give families long-term support throughout the many months and years it may take to get a full and accurate diagnosis. The counsellor would provide continuity, support and understanding throughout this process.
The organisation is also campaigning for equal access to healthcare and disability supports and better holistic care coordination. It wants greater recognition of the health, economic, psychosocial challenges they face, and increased research and funding into undiagnosed and rare genetic conditions.
SWAN – swanaus.org.au and VCGS – vcgs.org.au
Learn about rare disease facts here.
