Dan and Alicia are working hard to make every day enjoyable for their daughter. Photo / The Adventures of Eva/Facebook
Dan and Alicia are working hard to make every day enjoyable for their daughter. Photo / The Adventures of Eva/Facebook
Eva Jimmieson's parents are trying to give their child as many experiences as possible after she was born with a fatal condition.
Eva is happy little girl with the cheeky sense of humour who loves swimming and listening to music but she lives a very different life to most children her age.
At two years old Eva weighs just 6kg, about half of what the average toddler weighs, and can't walk, sit, talk or eat on her own.
This is caused by a genetic premature ageing condition called Cockayne Syndrome.
Only one in 250,000 people are affected by this disorder, with only eight known cases of children being currently diagnosed in Australia.
Eva has the most severe form of Cockayne Syndrome, type two, which means she suffers from growth restriction, hearing loss, vision loss, contractures to several joints, photosensitivity, microcephaly (small head size), feeding issues and developmental delays.
Sadly, Eva's diagnosis also means that her life expectancy is drastically shortened, with seven to 10 years of age the current average for people with the condition.
Feeding issues are a common symptom of Cockayne Syndrome, so Eva had to have surgery to insert a feeding tube into her stomach. Photo / The Adventures of Eva/Facebook
As a result her parents, Alicia and Dan Jimmieson from Brisbane, are working to make as many happy memories with their daughter as possible.
"Having a child with a life-limiting condition has certainly given us perspective on what is important in life," Alicia told news.com.au.
"We want to spend as much time as possible with Eva, provide her as many experiences as possible, and basically just make every day as happy as it can be."
Eva was diagnosed in April 2017 just before her first birthday but, due to countless hours of their own research, her parents already knew what their daughter was up against.
"Prior to this we had also done endless hours of our own research and this was the only syndrome we had found that matched all of her symptoms," Alicia said.
"We were devastated when we started to put all the pieces together and realised what it meant for Eva and our family."
While the formal diagnosis did not come as a surprise, her parents said they "felt lucky" they had received an official diagnosis as many children who have rare genetic disorders never get a proper answer.
"Our priorities shifted and now we always aim to enjoy every single moment we get to spend with Eva, and as a family, rather than focusing on the insignificant events that can take up our precious time," Alicia said.
While Alicia and Dan are working on giving Eva as many experiences as possible, there are still many things they have to consider that wouldn't usually be an issue for other children her age.
"She is more susceptible to illness and, if she was to become unwell, the consequences are more likely to be severe," Eva's mum said.
"As such, she cannot go to a typical childcare environment. Eva's photosensitivity also means we have to limit any time she spends outdoors, and ensure we take extra precautions to protect her skin.
Eva's mum said she is a very affectionate and loving child. Photo / The Adventures of Eva/Facebook
"As you can imagine she spends a lot of her time in hospitals, waiting rooms and therapy appointments."
Mounting medical bills and Alicia not being able to return to work has put a financial strain on the Jimmieson family, so one of their friends set up a GoFundMe page to help ease the pressure.
In just over a month they have raised more than $10,000, which will go towards medical bills, giving Eva as many experiences as possible and the chance of giving her a sibling.
Alicia and Dan are both carriers of the gene fault that leads to Cockayne Syndrome, meaning there is a 25 per cent chance of their next child having the condition if they conceive naturally.
"Eva loves being around other children, so we hope to provide her a sibling that she can enjoy spending time with," Alicia said.
"We are therefore hoping to start IVF, which is a much more expensive process than typical IVF as it includes design of a genetic test as well as embryo testing to ensure we are giving Eva a healthy sibling."
A portion of the funds will also be given to Amy and Friends, a Cockayne Syndrome support charity in the UK.
Alicia said that Eva understands a lot of what is going on around her and, despite the challenges she faces, she has always been a loving and happy little girl.
"She has her own special methods of communicating with her loved ones, is extremely cheeky and loves being the centre of attention," she said.
"Very early on we were told that children with Cockayne Syndrome are some of the happiest children, and we can certainly vouch for that.
"Her smile and her laugh light up a room and our lives on an incredible scale."
Eva was diagnosed with Cockayne Syndrome just before her first birthday. Photo / The Adventures of Eva/Facebook
Eva is in the prime of her life in terms of health and happiness and her mum said right now they are just tackling each day as it comes.
"We try to make Eva's life as normal and enjoyable as possible for as long as we can, giving her many new experiences and adventures," she said.
"We know that the time will come where her health will start to deteriorate, but we try very hard to live in the moment and not think too far into the future."
