Alstonville family 'grateful' for miracle drug
ONE Alstonville family can breathe a sigh of relief after receiving news the miracle drug their daughter desperately needs is now within reach.
Violet Rickard, 6, was diagnosed with type two spinal muscular atrophy (SMA) when she was nearly two years old and has since struggled with the condition as it slowly degenerates her motor functions.
In a nutshell, it's like the childhood version of motor neurone disease and was considered a virtual death sentence - until now.
From June 1, the drug SPINRAZA will be available on the Pharmaceutical Benefits Scheme (PBS) for the treatment of Type one, Type two and Type three A SMA for patients under the age of 18.
This means what once cost $125,000 per dose will now be available to patients for $40 per script, or $6.50 if they are on a healthcare card.
Violet's parents, Ben and Anna Rickard, said their daughter was one of the first children with SMA type two to be offered an appointment at Lady Cilento Children's Hospital in Brisbane to receive her first dose on June 1.
"We are really hopeful that it is going to change Violet's life for the better and change our lives for the better too," Mrs Rickard said.
The treatment is administered by lumbar puncture directly into the fluid surrounding the spinal cord to regulate and aid motor functions.
"It is a pretty invasive procedure, when you are only six and have to have them multiple times," Mrs Rickard said.
"We are trying to keep our expectations low, we would be just so grateful if it stopped the degeneration."
The chief executive of Spinal Muscular Atrophy Australia, Julie Cini, said getting the miracle drug onto the PBS was a fantastic result for many families.
"Pre SPINRAZA we saw about one baby a month die from SMA, usually SMA type one," she said.
"Since SPINRAZA, in the last two years we've only seen about half a dozen kids pass away and most of those were early on and missed the cut off trial or have chosen not to have treatment or were undetected until really late."
Ms Cini said because the drug was still so new, the extent of the results on different patients was "still see as you go sort of thing".
"It's not a death sentence any more, it's definitely giving these families hope to watch their children grow up," she said.
"Some of them may have mobility issues, they might need to be in a wheel chair still but definitely it's giving and empowering their independence."
"For example, a child with SMA type one, at 12 months of age or even 18 months of age, one, that is a phenomenon in itself, and two, to see that child be able to lift a cup and drink it is a phenomenal result as well."
Mr Rickard said he was optimistic this new drug would allow his family to start planning for the future.
"In the past you just sort of accepted this is just going to get worse as time gets on," he said.
"You don't think about it too much, just live for the day."
"(But) now we might actually be able to make plans for the future which is a really nice change of view."
Even with this victory, Ms Cini said there was still work that needed to be done in advocating on behalf of the over 18s diagnosed with SMA.
"We're currently working with the adult population to make sure that we can get that data and convince the government that adults are just as important and that this drug will have an impact on their everyday living as well," she said.
"We're continuing the fight, we haven't stopped and we won't stop until we get a result."