About SWAN NZ
SWAN New Zealand is a support group for New Zealand patients and families affected by an undiagnosed genetic condition – a ‘syndrome without a name’. SWAN NZ was established by the New Zealand Organisation for Rare Disorders (NZORD) in 2016.
NZORD have been aware of the increasing number of enquiries from patients and families who had not received a diagnosis for their condition. Not having a diagnosis or label for their condition can often lead to feelings of isolation and loneliness. It also hinders their ability to join one of the rare disease support groups available to those who have received a diagnosis.
SWAN groups have been set up in Australia, the US and the UK with much success, and this is what has inspired NZORD to set up SWAN NZ.
Based on the needs identified by other SWAN groups around the world, SWAN NZ aims to:
- Develop a community of families with undiagnosed genetic conditions for mutual support and information sharing.
- Develop a network of health and social care professionals with expertise in undiagnosed conditions.
- Increase awareness and understanding of undiagnosed genetic conditions.
What is an undiagnosed condition?
Doctors will sometimes say that a child has an “undiagnosed rare condition” or an ”undiagnosed genetic condition” when they assess that the child’s features strongly suggest the child has a genetic condition, but they are unable to find a diagnosis for certain characteristics or symptoms. There are thousands of rare genetic conditions. Some of these have only been reported in fewer than five children. Many still do not have a diagnostic test available, meaning the diagnosis relies on the doctor recognising this rare condition based on searching databases and medical literature, as well as their medical experience.
For these reasons, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years, and sometimes may never happen, especially with rare conditions. In addition, some experts say that between 30 to 40 percent of children with special needs do not have an exact diagnosis.
This can be very difficult for parents, who may seek a diagnosis for many reasons. Some parents want a diagnosis to be able to assess a doctor who has special knowledge of this condition. Unfortunately, because many of these conditions are extremely rare, there is often not a doctor who has seen many (or any) similar cases. For this reason it may take a doctor a long time to match symptoms to a possible diagnosis.
“It is just so great to be able to speak to someone who gets what it is like to have an undiagnosed child.”
"It is the isolation that use to get to me, now I have met other families like ours through SWAN.”
“I don’t have to explain myself to other SWAN families, they understand.”
“When a family says ‘thank you’ it fuels my passion to continue supporting more families.”
Quotes supplied by Heather Renton from SWAN Australia