Beautiful girl’s rare condition ‘like having cancer in every organ’

A devastated mum has revealed the heartbreaking reality of her toddler’s rare, incurable disease as she battles for treatment overseas.

Leaha Miller and daughter Ellie who has rare genetic condition. Picture: Adam Head

Leaha Miller is used to strangers staring at her little girl, Ellie, but she just wishes they would take a moment to stop and think before making cruel comments.

Three-year-old Ellie has a disease that has left her blind, morbidly obese and suffering from organ failure and autism.

The toddler has Alstrom Syndrome, a brutal disease affecting nearly every part of her body. It has no cure and can often be fatal in early childhood.

Ms Miller said her daughter was taking the drug Ozempic to manage her weight but finding effective treatments had been difficult, given many medical professionals hadn’t heard of Ellie’s condition.

Leaha Miller said strangers could be cruel about Ellie’s appearance when she’s out with her family. Picture: Adam Head

“Daycare can no longer cater for her so I bring her to work and she can’t fit into a car seat at 46kg,” Ms Miller said.

“I get so many bad looks and comments when we take her out – people don’t know what her condition is.

“With her blindness, autism and weight it has become a safety risk when we’re at the shops as I can’t manoeuvre her easily if she panics.”

But Ellie has received some good news, with an invitation to visit the Alstrom Clinic in the US in March.

“They know the right treatments and how to intervene when no one in Australia can,” Ms Miller said.

“We have to do this or sit and wait until things become severe.

“They can’t cure her but they know how to slow down and prevent the symptoms to prevent it becoming more severe more quickly.

“We are determined to make her life as comfortable as we can.”

Ms Miller said that after a healthy and regular second pregnancy she quickly noticed differences between Ellie and her first daughter.

“She was born at a healthy weight but started gaining weight concerningly quick,” Ms Miller said.

“With no success, we tried different baby formulas and calorie counting, but when she started having developmental delays we knew something was wrong.”

Leaha Miller and daughter Ellie. Picture: Adam Head

At three months old, and weighing 12kg, Ellie was diagnosed as legally blind, after experiencing continuous eye movements, but her mother suspected even then her diagnosis was more sinister.

Ms Miller said her baby girl would flush breast milk from her nose while feeding and, at two months old began, having regular seizures.

“I had a breakdown, I knew it was something worse because she was always so sick,” Ms Miller said.

“Her bloods weren’t correct, she was morbidly obese, blind, her eyes were shaking, her heart rate was fast and her breathing stopped when she slept.”

Genetic samples sent to Finland revealed Ellie’s extremely rare diagnosis her doctor described as “like having cancer in every organ with no cure”.

“95 per cent of the doctors haven’t even heard of it doesn’t fill you with confidence, they would have to Google it in front of us,” Ms Miller said.

“I feel completely devastated and destroyed, lots of the children pass away during childhood.”

Originally published as Beautiful girl’s rare condition ‘like having cancer in every organ’