Dominic receives rare disease diagnosis ahead of annual day of awareness

Dominic and mum Amanda.

Rare Disease Day, held annually on the last day of February, is a special day for 16-year-old Dominic – who not only received a diagnosis of Malan syndrome just weeks ago but also celebrated his birthday the same month.

Through advances in technology, Genetic Health Queensland were able to successfully find a diagnosis for Dominic’s rare disease with Whole Genome Sequencing (WGS.)

Just 10 people in Australia are diagnosed with Malan syndrome, signifying the rarity of Dominic’s condition which is the result of a change in the NFIX gene.

For Dominic’s mum Amanda, the diagnosis has allowed her to connect with other patient families to share advice and info.

“Up until the 1st of February, we always just said he had Dominic syndrome, because he was always one and his own – but going forward things will be interesting, as the diagnosis has opened up a whole chapter for us,” Amanda said.

“Having a diagnosis doesn’t change anything for Dominic, but it’s good to know there is a name for it and that we can share information with other families too.”

Director of Genetic Health Queensland Dr Julie McGaughran said the WGS project had allowed so many patients like Dominic to get a name for their rare disease.

“It has been great to have access to state-of-the-art testing through this project, with Metro North Health and Illumina,” Dr McGaughran said.

“We hope the constant improvements in genomic testing will enable more families to end their diagnostic odyssey and understand more about their child’s condition.”