Rare disease a killer: Mum's quest to help others
IT IS the biggest killer of kids under the age of two and you have probably never heard of it.
Ipswich mother Kylie O'Mahony had no idea what spinal muscular atrophy was until she was sitting in a doctor's office being told her beautiful daughter Mikaela Tucker suffered from it.
As well as being a bubbly, bright child Mikaela she suffered hypotonia, or floppy baby syndrome.
Her muscles weren't developing as quickly as expected and she wasn't hitting all the milestones most other children did at her age.
When Mikaela was eight weeks old, Mrs O'Mahony got some of the worst news a parent can receive.
Instead of being given a referral to a physiotherapist like she expected, she was told her daughter had spinal muscular atrophy - a rare inherited genetic muscle wasting disease that would eventually take her life.
From the day she was diagnosed, Ipswich Hospital became the Pine Mountain family's second home.
Mikaela stayed in hospital until she tragically passed away at four-and-a-half months, in 2005.
Mrs O'Mahony said Mikaela was the first child with the disease to be treated at Ipswich Hospital.
"My daughter had the worst form of the disease, SMA type 1," she said.
"The nerve endings at the top of the spinal cord die and sufferers slowly lose the ability to walk and talk.
"Those with type 2 or 3 can live for a long time but people with type 1 don't survive past 18 months."
Before her daughter's diagnosis Mrs O'Mahony had never heard of the disease.
Now she is on the board of a charity raising awareness and funds for others affected.
There is a drug being trialled in Australia right now that helps sufferers of the disease.
"The drug has been a big step for us," Mrs O'Mahony said
"Julie Cini, CEO of Spinal Muscular Atrophy Australia, will be visiting Parliament on August 16 to try and fast track the drug Spinraza on the Pharmaceutical Benefits Scheme to make it affordable for families when drug trials are complete.
In August last year Mrs O'Mahony opened Kaela's Patch, a fabric store named in honour of her baby girl.
This month she will auction off quilts from the store with all funds going to Spinal Muscular Atrophy Australia.
Residents can bid on auction items until the end of July, in store on Darling St or on the business Facebook Page.
"Our charity also works to fund cough assistant machines," Mrs O'Mahony said.
"They are vital pieces of equipment that can vastly improve the quality of life for sufferers and means they need to visit the hospital much less."
So what is spinal muscular atrophy?
SPINAL muscular atrophy is a rare inherited genetic muscle wasting disease characterised by a loss of nerve cells called motor neurons.
Ipswich's Kylie O'Mahony, who sits on the board of Spinal Muscular Atrophy Australia, said the affected muscles not only included the muscles you see, but internal muscles used for breathing, coughing and swallowing.
The loss of motor neurons leads to the progressive muscle weakness and wasting.
"The weakening of the respiratory muscles can lead to an increased tendency for pneumonia and other lung problems," Ms O'Mahony explained.
"Spinal muscular atrophy is caused by an altered gene that does not function the way it should.
"It is passed on by what is known as autosomal recessive inheritance and for an individual to be affected with SMA; they need to have inherited an altered gene from both their parents."
She said one person in 35 unknowingly carried the gene.
"If a couple already has a child with the disease, each of their subsequent children has a one in four chance of inheriting spinal muscular atrophy," she said.
"About 630 people die of spinal muscular atrophy and related syndromes each year."