By Sarah Francis
A devastated couple are creating lasting memories with their daughter after she was diagnosis with a fatal illness.
Rachael and Jonathan* discovered their three-month-old daughter Mackenzie had Spinal Muscular Atrophy (SMA) type one after noticing she was ‘floppy’ during a check-up.
The rare condition leads to progressive muscle wasting which will slow her movement, swallowing and breathing – eventually it will take her life.
The heart-broken family hope to make special memories with their young daughter, while raising awareness for the disease, which is the number one 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.
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.
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’.
“Whilst there are injections which can slow down the onset and in some cases prolong life, it an not repair the damage already done. There is no cure. Upon hearing these words something in us broke.
“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 launched a GoFundMe: here to help Jonathan and Rachael 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.
“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.
“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?
“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.”
*The family wish not to disclose their surname