Patient stories

If Anu Madan knew her daughter's diagnosis early on, she may have been spared the pain of never knowing what she was feeling or thinking.

Anu believes if Arika's condition was tested for as part of the newborn bloodspot screening program (the heel prick test), she would have received targeted treatment much earlier and mightn't be so developmentally behind.

The two-year-old was diagnosed with Angelman syndrome, a genetic disorder causing developmental disabilities, at eight months of age.  

Angelman syndrome usually isn't detected until milestone delays become noticeable at about six to 12 months.

Anu said she noticed her daughter wasn't crawling or babbling, struggled to hold her head up and concentrate and rarely cried.

"The diagnosis blind-sided us as both sides of the family never had a genetic disorder," she said. "Despite knowing this we still had all the genetic tests that were available to us at the time of my pregnancy to make sure.

"Our whole world just came crushing down when we learnt of Arika's disorder, and we are still struggling to come to terms with it. Arika is non-verbal, so we don't know when she's hurt, tired, hungry or thirsty. We are left with no choice but to guess." 

To help with Arika's condition she receives speech, hydro, occupational and physio therapies, takes anti-seizure medication, and sees a team of specialists.

Anu said the economic cost of raising a child with a genetic disorder had also taken a huge toll on the family, which also includes Arika's dad, Mohan, and brother Atharv, 6.

"The NDIS covers a lot of the expenses but not everything," she said. "The medical equipment needed isn't cheap so we try to source second-hand equipment at markets where we can.  On top of that, we have the cost of all the specialist appointments, which easily mount up." 

Anu wants Angelman syndrome to be included in the newborn bloodspot screening program to spare other families the prospect of a late diagnosis and delayed treatment. 

"If we had been better prepared and known what to expect things would be different," she said. We waited eight months for a diagnosis and then faced huge wait times to see specialists.                         

"If this disorder had been diagnosed at birth she would have received support so much sooner and her motor and cognitive skills wouldn't be as poor."

For Angelman syndrome to be considered for addition on the newborn screening test an assessment of the costs associated with this condition to help identify the savings that might result from earlier diagnosis and interventions is required.

A new study led by the Murdoch Children's Research Institute (MCRI) has found the cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment.

Of the rare disorders studied, Angelman syndrome incurred the highest yearly costs per person at $96,994, followed by Prader-Willi syndrome ($57,576), Chromosome 15q duplication syndrome ($52,130) and Fragile X syndrome ($33,221).

The four rare disorders are characterised by varying degrees of intellectual disability, autism and behavioural problems. About 135 people are born with one of these syndromes each year in Australia.

According to the research published in the Journal of Autism and Developmental Disorders, significant reductions in yearly costs were related to the intellectual functioning of the child, suggesting that the economic impact could be lessened by earlier targeted interventions. For every point increase in the child's IQ, the total yearly costs were reduced by $734.

MCRI Associate Professor David Godler said early diagnoses for these syndromes was now possible using a specialised screening method recently developed by MCRI researchers.

The one-step test can be used to screen for the four syndromes simultaneously by looking at the number of chemical modifications or marks called methylation added to affected genes, which are not present at such high or low levels in children without these disorders. 

Associate Professor David Godler said given the huge costs associated with these conditions and potential savings to Governments and affected families if the diagnosis was made in the first year of life, the research findings support the test being considered for addition in the newborn bloodspot screening program.

To read more about the study findings click here.