Elora Bremen diagnosed with rare Helsmoortel-Van der Aa (ADNP) Syndrome
A darling little girl diagnosed with a savage disorder that will claim her life is trying to raise funds for a wheelchair-accessible vehicle to attend school.
Townsville
Don't miss out on the headlines from Townsville. Followed categories will be added to My News.
A darling little North Queensland girl diagnosed with a savage degenerative disorder that will slowly claim her life is trying to raise badly needed money for a wheelchair-accessible vehicle so she can attend vital medical appointments and school.
Ingham kindergartener Elora Bremen, turning five on Halloween, was only last week officially diagnosed as just one of 77 people in the world and probably the only person in Australia to have Helsmoortel-Van der Aa (ADNP) Syndrome.
Grandmother Jo Costin said the neurodevelopmental disorder had left Elora confined to a wheelchair and would eventually take her eyesight and hearing.
She said ADNP Syndrome had a life expectancy of about 40 but much was unknown given the rarity of the disorder.
“This is all new to us, what we have been told … is that this genetic disease has been around for only 10 years after it was discovered by a Dutch doctor.”
The family matriarch said that prior to sending Elora’s blood to Thailand for advanced testing that confirmed ADNP Syndrome, the family believed she had global developmental delay, autism and cerebral palsy.
“She will never be able to walk, she will never be able to speak … she is vision impaired and we are hoping to teach her sign language before she loses her vision completely and she will completely lose her hearing,” she said.
“Yet to come is still kidney failure, heart problems and seizures.”
Ms Costin said it was a brutal prognosis.
“It’s pretty full on, it was a massive kick in the guts for us,” she said.
“When we got the diagnosis on Tuesday, we were on a big rollercoaster emotional ride, it was like ‘holy crap, are you serious?’”
The tight-knit family, eight of whom live under one roof, are trying to remain positive and have launched an ambitious appeal to raise $60,000 for a new car that will qualify for government funding to become wheelchair-accessible.
Ms Costin said the family currently carried Elora to and from the family vehicle, which could not fit a wheelchair.
“We can’t take it, we can’t use it.”
She said her granddaughter was enrolled at Ingham State School next year.
Ms Costin’s sister Renee White, a disability support worker, said $60,000 was a significant sum and she was also planning to approach local businesses.
She said they were hoping to purchase a Kia Carnival, a vehicle that would “last a long time”.
“Not something that is going to break down immediately.”
Father Liam Bremen, 23, who has been with Elora’s mother Alisa Jakavicius, 22, for six years said any contribution to the GoFundMe campaign would be greatly appreciated and contribute to a much greater quality of life.
Ms Costin said the family was trying to remain upbeat given the “mind-blowing circumstances”.
More Coverage
Originally published as Elora Bremen diagnosed with rare Helsmoortel-Van der Aa (ADNP) Syndrome
Join the conversation
Security still waiting for safety vests after ‘horrific’ hospital stabbing
It’s been over 100 days since a security guard was allegedly stabbed by a patient at Townsville University Hospital, and staff are still without the stab and slash-proof vests they’ve been demanding, according to a concerned union.
Read more
Army vehicles prove all-terrain power ahead of PNG exercise
The 2nd cavalry regiment got their wheels wet in Tully jungle as part of a training exercise preparing them to navigate the jungle in armoured vehicles or by foot.
Read more