Those with Prader-Willi syndrome suffer from insatiable hunger, but the challenges don’t stop there – ABC News

Kellie Szentirmay remembers being pregnant with her twins andimagining the future all four of her children gleefully running to play by thecreek at the back of her Canberra home.

"But that's not going to be our life," Ms Szentirmay says.

A little-known disability means her "smiley" daughter Evie, Jack's twin, will experience life very differently to her siblings.

"The day after we had the twins, the doctor came into our room and asked us if there had been any family history of disability or cerebral palsy," shesays.

The doctor's concernarose after Evie was born with very little muscle tone, almost no movement, no cry and a lack of a suck-reflex.

The baby girl underwent weeks of testingbeforebeing diagnosed with Prader-Willi syndrome (PWS).

According to the Murdoch Children's Research Institute, the syndrome is due to an "alteration of chromosome 15, one of the most complex regions of the human genome, affecting almost all systems of the body and brain".

"The disorder is associated with life-threatening obesity in children and results in constant insatiable hunger, decreased physical activity and a reduced metabolic rate," the institute says.

It can leadto obesity, type 2 diabetes, a high chance of mild to moderate intellectual impairment, anxiety, behavioural problems and infertility.

The differences betweenthe twins are stark.

Ms Szentirmay saysJack is often "running amuck, whileEvie is currently just sitting".

"She's really slow in everything she does and she can't speak like Jack does, so she's got lots of noises and babbles, but there are no words," she says.

"She's also needing a very strict diet that I have to make sure she has every single day."

But despite her syndrome, Ms Szentirmay saysEvie has "the most beautiful placid soul" and it is very difficult to reconcile the hardshipsher daughter faces with her "smiley and cuddly" nature.

"She is the happiest little girl you'll ever meet, and I know parents say that a lot about their children, but she is," she says.

PWS is not a well-known illness, something Ms Szentirmay hopes to see change.

Those who have heard of it understand it to be a condition that burdens sufferers with an uncontrollable hunger that can be deadly.

But Ms Szentirmay saysthere's more to it.

Children with PWS cannot metabolisefood as effectively as other children, and specialdiets and smaller portions are needed, which can be distressing.

"We might have a life where we need to put locks on our cupboards and modify the kitchen because there might come a stage in her life when she will be food-seeking," she says.

"We understand that it will display as an insatiable appetite where she just won't have an off-switch.

"And to us, that's the worst part as she won't be able to enjoy everything that her brothers and sisters will."

Prader-Willi Research Foundation Australia founder and chief executive Kathlene Jones launchedthe organisation after her daughter was diagnosed with PWS in 2013, following a 19-day stint in neonatal intensive care.

She says the condition is often misunderstood.

"And that is really understating the impact on the children," she says.

"Our kids live with an unending sense of starvation and they feel as though their life is at risk. So, they constantly need to know when their next meal is coming and what it's going to be.

"So imagine thatyou feel starved to the point that your life depends on it and then you have to sit down and watch your sibling get a meal that's much bigger than yours."

The latest research suggests as many as one in 8,000 babies are born with PWS.

Ms Jones saysshe was "shocked" that she had never heard of the syndrome prior to her daughter's diagnosis.

"Most families find it incredibly traumatic when they begin to understand what the quality of life is going to be for their children and what they as a family are going to have to live with and watch their children endure."

Ms Jones saysthe priorities for her organisationinclude continuing research into gene therapy and establishing a centre of expertise.

Ms Szentirmayagrees this is what is needed.

Currently, Evie's care is divided betweenendocrinologists, paediatricians, occupational therapists, physiotherapists, dieticians, hydrotherapists and nutritionists, andthere is not a single, accessible PWS expert.

The foundation is holdingwalks across the country to raise funds and awareness for the condition.

The mothers are sharing their stories tosupportthe Prader-Willi Research Foundation Australia's Finding 15 walk, invitingthe community to register for the fundraiser.

A walk will take place in Canberra on Sunday May 7.

"Our children are such beautiful human beings, and often, their beauty is missed because of the challenges that they face," Ms Jones says.

"So, we really just want to give our children every opportunity to shine."

For Ms Szentirmay, the hope is simple for Evie to be accepted by her peers.

"I want her to go to school and make friends and just have a normal life with her brothers and sisters."

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Those with Prader-Willi syndrome suffer from insatiable hunger, but the challenges don't stop there - ABC News