James Riddell and Ivana Goluza Riddell with their sons Oscar and Felix. Photos: Keeli Dyson.
The family of a young boy living with a disease which affects only a dozen people in the country are fighting to raise awareness and funds for vital research and treatment options while supporting and connecting others within the rare diseases community.
Ivana Goluza Riddell’s baby boy was just days old when doctors discovered he had a heart murmur in July 2024.
The family was sent straight from Wollongong Private to the Royal Hospital for Women in Randwick, where baby Felix was assessed and his first health challenges came to light.
“As soon as we got in they scanned his heart and they said that he’s got tetralogy of Fallot which is a very complex congenital heart condition,” Ivana said.
“Essentially from there it was just one thing after another they were finding.
“Some of the other difficult things that we found was that he’s got very small lung arteries.”
At two months of age they received the devasting diagnosis of Myhre Syndrome, an ultra rare genetic disorder, in which an overactive gene leads to a series of complications.
“It starts causing scarring on all the organs,” Ivana said.
“So our organs and our vessels like to be soft and the children and adults living with Myhre have progressive hardening and stiffening of organs and that eventually causes a life-limiting event whether it’s the heart or whether it’s an infection that travels somewhere.
“It’s a very difficult disease to just think about.”
Because of the rarity of the disease, there were very few places for them to turn for information and support, with the Myhre Foundation in the United States helping provide some connections and answers.
“It’s such a hard thing because you do need to expand your networks to find the right families and the right organisations to understand what’s going on, and we didn’t have that in Australia,” Ivana said.
The Illawarra family created the Myhre Foundation Australia to offer support and connection.
Building on those connections and knowledge they’d gained, Ivana started Australia’s Myhre Foundation to ensure other families had the information and community that was so vital in navigating the condition.
“We turned to the US but we want to have families be supported in the context of an Australian setting with our healthcare system and things we can do here like NDIS and what that looks like,” she said.
“It’s a whole new language that I didn’t understand even though I have a health background.”
Fundraising for research and ensuring trials are available for Australian families is crucial, with promising steps being made.
“The good news is there’s treatments and things like gene editing and immunotherapy – they’re not things of the future, they’re happening right now,” Ivana said.
“We’re in conversations every week – last week we spoke with a mother in Slovenia for another rare genetic disease which they essentially have developed a treatment for her son and they are 20 days post that injection and he can now nearly walk.
“Once you correct the gene that is causing the issues, it can have a profound effect and essentially give these kids and adults a life.”
They’re hoping to generate some support as they host the foundation’s first event, a five-kilometre charity walk in Bulli called Move for Myhre, with an initial goal of $5000.
“The more that you can share the more understanding there is and that’s a really important thing for us,” Ivana said.
“We would obviously love a lot more but I think we’re focusing on awareness first up. But even the $5000 is going to go a long way to support families and also the research.
“The global ask is three million but we are going to do everything we can to contribute to that total.”
While growing understanding of Myhre Syndrome is the focus for the event, Ivana said it was also important for the community to understand that rare diseases aren’t quite as uncommon as they may think, and support is crucial.
“Yes, Myhre Syndrome is ultra rare but there’s ten thousand rare diseases,” Ivana said.
“Internationally it’s 300 million people that are affected directly and then you can imagine their families, their communities – it touches everyone.”
Move for Myhre is on Saturday 31 January at 9 am at Bulli Beach Reserve, starting near the playground.
“We’re going to spend a little time talking and creating that awareness but also have a lot of fun with the playground, bubbles, music and raffles,” Ivana said.
“It should be a really good morning out for families.”
To register for the event, donate or find out more visit the Myhre Foundation Australia website.
