AT just 10 weeks old doctors noticed something was wrong with little Mackenzie.
The tot appeared “floppy” at a routine check-up, prompting them to carry out more tests.
Mackenzie’s parents Rachael and Jonathan were devastated when doctors revealed their daughter has a terminal disease
They revealed a heartbreaking reality.
Mackenzie was diagnosed with spinal muscular atrophy (SMA) type one, a terminal and incurable muscle wasting disease.
The rare condition will eventually slow her movement, stop her swallowing and breathing, before eventually claiming her young life.
Her devastated parents Rachael and Jonathan are now hoping to make special memories with their little girl, while also raising awareness of the disease.
Though rare, it is one of the leading genetic killer in babies under two.
So far, Mackenzie has fed animals, visited zoos and aquariums, and taken a family holiday thanks to the Starlight Foundation.
There is no cure for spinal muscular atrophy type one, doctors told Mackenzie’s devastated parents
Mum Rachael said: “Her smile is what we get out of bed for… we wonder what it will be like when she’s older… but will never get to see it”
Rachael said: “Mackenzie’s smile has become what we get out of bed for.
“Her smile is so addictive, all gums with two gorgeous dimples either side.
“We often wonder what that smile will look like when she is older. But we know we will never get to see it.”
After noticing Mackenzie was “floppy” during a 10-week check-up in May, it was confirmed she had SMA, a neuromuscular disorder.
Mackenzie’s smile has become what we get out of bed for. We often wonder what that smile will look like when she is older. But we know we will never get to see it
Rachael, from Sydney, New South Wales, Australia, said: “When we heard her diagnosis we naturally were quick to ask what the cure was but the response was words like ‘terminal’ and ‘quality of life’.
“While there are injections which can slow down the onset and in some cases prolong life, it can not repair the damage already done.
“There is no cure. Upon hearing these words something in us broke.
Though rare the condition is the leading genetic killer in babies under two
Mum Rachael said: “The shock is enormous. We don’t get to keep our beautiful baby”
“Everything went blurry, the doctors voice went muffled and I felt like collapsing and being sick at the same time.
“My husband went into work mode asking questions trying to find a loop hole. I will never forget that moment.”
The couple’s friends have set up a GoFundMe page to help the family create memories with Mackenzie.
Rachael said: “We are broken by our new reality.
“The shock is enormous. We don’t get to keep our beautiful baby.
“We cannot even begin to know how to say goodbye.
The couple are hoping to raise more awareness of SMA, to alert other parents to the signs
“Some days we look at her and forget. She is so happy, innocent and my goodness she is gorgeous.
“We cannot fathom how she will no longer exist. Life is cruel and unfair.
WHAT IS SPINAL MUSCULAR ATROPHY?
THE genetic condition makes the muscles weaken, and gets worse over time.Common symptoms of SMA include:
floppy or weak arms and legs
difficulty sitting up, crawling or walking
muscle twitching or tremors
There are several types of SMA, with type one most common in babies under the age of six months old.It is the most severe type, and sufferers rarely live beyond the first few years of life.There is no cure, but research is ongoing to find new treatments.Treatments can help manage a child’s symptoms, and include special exercises, feeding tubes and surgery or braces to treat spinal problems
“All we can do is make sure she smiles as much as possible through dancing, music, games, swimming, love and cuddles for as long as we can.
“My husband and I will do everything we can every step of the way.”
They couple hope to raise awareness so that parents are offered a simple screening test for SMA.
Rachael added: “This rare neuromuscular disorder is not so rare. Why hadn’t we heard of it. Why wasn’t it tested for if it was the number one genetic killer?
They are making memories with the tot in the time she has left
“We have since learnt that a person can find out if they are a carrier through a simple blood test during pre-pregnancy screening.
“But we were not offered the carrier test for SMA.
“Now when Mackenzie is awake we focus on her. We never want her to cry, only to smile. We have a book of memories we are creating, each day a new memory, experience and photo.
“When Mackenzie is asleep we focus on raising awareness of SMA. We want everyone to know about SMA and the carrier testing. Our hope is to make it routine and eventually free for all.”