A Melbourne mum reveals the struggles she faces to care for her daughter.
When Julieanne Bugeja’s daughter Alyssa was just 4-months old, she began to worry. Her baby girl wouldn’t roll, crawl, or sit up without help. In a search for answers, a 23 year-old Julieanne and her husband, Chris, sought help from maternal nurses. One said Alyssa was “a delayed baby,” another said she was “a lazy baby.”
Not satisfied with the answers she was being given, the Melbourne mum sought advice from a pediatrician, when Alyssa was 6-months old. After 3 months of testing, her daughter with the smile of an angel, was diagnosed with Spinal Muscular Atrophy (SMA).
“Our lives were crushed at that moment. We were told take your daughter home and love her as she won’t live to see her second birthday,” Julieanne, who is now 33, revealed.
SMA is a rare disease, which affects approximately 1 in 6000 children. It is a Motor Neuron disease, similar to Amyotrophic Lateral Sclerosis (ALS), which is caused by a missing gene, necessary to provide protein to motor neurons in the spine. There is no cure or treatment to stop or slow the progression. Without the protein provided by this gene, motor neurons in the spine slowly die, leading to muscle wastage.
This disease would cause Alyssa to lose the ability to move and swallow. Her radiant smile would begin to fade. Julieanne recalling the moment Alyssa was diagnosed explains, “It’s a numbing feeling, when you are told your child is going to die, while she’s sitting on your lap smiling at you is crushing.”
Not long after, Alyssa caught a simple cold. A cold that caused Alyssa to spend 4 weeks in an intensive care unit (ICU), riddled with breathing tubes due to the SMA. This is where Alyssa spent her first birthday.
But Julieanne continued to fight for Alyssa, explaining, “We couldn't give up on our girl. We weren’t going to lose her without a fight. We flew her to America and tried a natural treatment in Texas which didn’t work. So we went to enroll in a drug trial in a Californian hospital.”
“Unfortunately Alyssa caught another cold there, and ended up in ICU where they were using a machine called a cough assist on her. She was medically airlifted back to Melbourne as she was not entitled to partake in the trial after being in ICU,” Julieanne went on to explain.
When Julieanne and her daughter got back to their Melbourne home, Julieanne was told the cough assist used in America was not available in Australia. There had been no studies undertaken regarding it effectiveness in Australia, and was therefore, was yet to become used as a form of treatment for SMA patients.
But Julieanne persevered, and worked to have the machine brought in to help Alyssa. “We could not understand how children in Australia were not looked after like the children in America with SMA were. After a lot of discussions, conversations and unfortunately, arguments, the Children’s Hospital agreed to trial the machine on Alyssa,” she says.
Julieanne then purchased a cough assist for use at home. While the machine was very expensive at $9,500, with no government funding provided, Julieanne believes it was the best money she’s ever spent. “Now children Australia wide are using this machine with SMA and other respiratory illnesses,” Julieanne said.
SMA has causes Alyssa, who is now 10-years-old, to suffer from a variety of symptoms. Each, costly to treat.
And while attaining quality of life for her daughter is a daily battle, Julieanne as her mum, suffers too. “You can’t leave your child to go to the bathroom, or get something to eat as she has a machine that no one can use but her parents and carers. Yet her carers aren’t allowed in the hospital and give her parents a break to go eat something,” Julieanne reveals.
“Then there’s the stares from people in the shopping centres and people saying 'oh she can talk'" or telling their children "don’t touch her, she’s sick,” she goes on to explain.
Equipment to aid Alyssa is not readily available in Australia, and everything Julieanne purchases to make her life more comfortable needs to be customised.
“On average Alyssa waits a year for funding to be granted for her mobility equipment. At the moment she is in a chair that she has outgrown, the bolt has come loose and it bounces her around which is not good for a child who can choke on her saliva,” Julieanne explained.
Alyssa was rejected funding from The Shane Warne Foundation, a response which Julieanne waited for for 6 months. Julieanne and Alyssa are now waiting for a case worker to approach the organisation to fight for further funding.
A new wheel chair is set to cold Julieanne $16,000. Alyssa also requires a splint, to avoid the contractures in her legs. An appointment which she has waited over a year for.
In relation to her struggles, Julieanne says, “It feels like being a parent of a disabled child that there is so much to battle. Dealing with the illness, fighting for your child to get the care like other countries have, getting equipment that suits them, having respite taken off you although your child’s health has deteriorated.”
Julieanne’s wish for Alyssa is that she be treated like any other young girl. “She doesn’t deserve to be in a chair that causes her discomfort. She deserves to be comfortable and happy, like every other Australian 10-year-old,” Julieanne says. A cause, for which she will continue to fight for.
If you would like to follow Alyssa’s story or make a donation, please visit her Facebook page.
Alyssa's birthday is fast approaching and her mother Julie would love your help in making her day extra special. Julie is asking if you and your family can please send a card, letter or picture to Alyssa wishing her a happy birthday. It would mean the world to her.
Details are:
Alyssa Kotsopoulos
PO Box 5409
Cairnlea,
Victoria, Australia 3023
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