The cruel disorder killing their little baby
THEY can't cure her. All they can do is spend whatever time they have left with her. And talk about what it is killing her.
First-time parents Rachael and Jonathan are reeling from a brutal blow.
After giving birth to a beautiful and seemingly healthy baby girl, the Australian Federal Police officers have learned their precious 12-week-old daughter Mackenzie has a devastating neuromuscular disorder.
And heartbreakingly, they said they have been told in Mackenzie's case it is extreme, rapid and terminal.
"We had 10 blissful weeks with her before our world fell apart," Rachael said.
Two weeks ago Mackenzie was diagnosed with Spinal Muscular Atrophy (SMA) Type 1.
Spinal Muscular Atrophy Australia Inc. CEO Julie Cini said SMA is a genetic muscle wasting disease.
"SMA Type 1 is the number one genetic killer of babies under two.
"If someone has SMA Type 1 it is usually fatal within 12 months of life."
Sydney Children's Hospital paediatric neurologist Dr Michelle Farrar said SMA is an inherited type of motor neuron disease that mostly affects infants and children.
"The nerve cells in the spine 'spinal' have low amounts of an essential protein, resulting in muscle wasting or 'muscular atrophy'."
It was a lactation consultant that first noticed Mackenzie seemed 'floppy', family friend Angela said.
"To be on the safe side, they went to a GP who said they needed to immediately see a paediatrician," Angela said.
Sadly, it was Dr Farrar who confirmed Mackenzie has SMA Type 1.
Rachael said she and Jonathan will now watch their little baby slowly "lose the ability to move, to swallow and finally to breathe".
"We are broken by our new reality. The shock is enormous. We cannot understand why life can be so cruel as to give such great happiness only to then take it away," Rachael said.
While their future now is to arrange palliative care for Mackenzie, Rachael and Jonathan's mission is to also talk about SMA and what is being done about it.
"We want it to raise awareness of SMA so Mackenzie's short life has purpose."
And they are not alone in this plight.
Julie said she has been working with Parliament for more than three years to raise awareness of SMA.
Dr Farrar said: "With an incidence of 1 in 10,000 births, approximately 9-10 children in NSW will be born every year with SMA. The majority have the most severe form, SMA type 1, with limited survival which explains why there is little awareness in the community about SMA."
Rachael and Jonathan certainly didn't know about SMA.
"Prior to this bombshell, we had never heard of SMA. Neither had our family or friends.
"However, we soon learnt it is the number one killer in babies under two. The number one killer in babies under two!
"How is it that no one hears of this disorder?" Rachael said.
Rachael and Jonathan want to see routine carrier testing for SMA made available.
"There are two ways you can test for SMA," Julie said.
"You can be carrier screened prior to pregnancy - one in 35 people carry the gene with SMA but it's not until you meet up with another carrier that every time you get pregnant it is a one in four chance you child will have SMA.
"Or you can have a CVS screen at 12 weeks to see if your foetus has SMA."
But Dr Farrar said this test is only done if the parents are known to be carriers of SMA.
"This is not part of the standard genetic testing in prenatal testing. This is done as a specific test if parents are known to be carriers."
Rachael said they had no recognisable family history of SMA and therefore a blood test to test for SMA should be carried out as a matter of routine even if there is no family history.
"At the very least it should be offered to couples before getting pregnant. We would have done the test had we known about it.
"We know that it is impractical and expensive to test for all recessive genetic disorders but surely if this involves a simple blood test then we should be testing for the one disorder that kills more babies than any other.
"Some doctors do not even know about SMA, what symptoms to look for and that carrier testing is available. Awareness of SMA needs to be increased at all levels," Rachael said.
"It's not just about carrier screening. The big picture is education. This disease is preventable with these tests," she said.
Dr Farrar said their goal is to raise to awareness about SMA and to be able to improve the care for all patients and families.
"Following diagnosis, many parents ask why they didn't know about SMA and could it be tested for sooner. Population (or carrier screening) and newborn screening need to be on the health care agenda," Dr Farrar said.
Spinal Muscular Atrophy Australia Inc. is hosting an event at Parliament House on August 16 to raise awareness about genetic and newborn screening.
"We hope that placing SMA in the spotlight will lead to improved care for all Australians living with SMA, and that the community and government will join us in our mission to progress treatment options, research and timely diagnosis." Julie said.
While there is no cure for SMA at the moment, Julie said there is a drug that increases motor function.
The drug is currently being considered by the TGA to see if it is effective.
Dr Farrar said: "Preliminary data suggests that patients treated with nusinersen have a greater chance of survival and some may improvement in function or stabilise, with ongoing weakness and disability."
However, the current cost for the drug would be $US750,000 for the first year of injections, Julie said.
While Rachael and Jonathan focus on making sure Mackenzie "smiles as much as possible through stories, dancing, music, games, love and cuddles for as long as we can", family friend Angela has set up a gofundme page.
"The money raised cannot create a cure for Mackenzie nor stop the grief and pain that Rach and Jonny are experiencing now and in the future. But all money raised will help both Rach and Jonny pay expenses, give Mackenzie the best care possible and help raise awareness of SMA."
And in less than one day more than $20,000 was raised.
Rachael said while the fundraising is fantastic it is the fact it is raising awareness that means more to her.
"People are commenting saying this is scary we're going to get tested - that's what means the world to me. The fact this might not happen to another baby is really what matters.
"My husband and I are so lucky to have met our little girl. Mackenzie made us parents. She is the most special person this world has ever seen. More special than this world can handle it seems.
"Nothing can now help our little daughter but if we can do something to increase the awareness of the illness that will so drastically cut short her precious life then perhaps her all so brief life would not have been in vain and without purpose.
"Today SMA is not curable but today it is 100% preventable," Rachel said.
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