On 11 March 2017, Rachael and Jonny’s world was made complete with the birth of their baby girl, Mackenzie – their princess. For the next ten weeks, life was perfect.
Rach and Jonny then made a regular visit to a lactation consultant who noticed Mackenzie seemed ‘floppy’. To be on the safe side, they went to a GP who said they needed to immediately see a paediatrician. Their world then began to close in on itself. The doctor said he thought she had Spinal Muscular Atrophy (SMA) Type One. Sadly, this was then confirmed by a neurologist at the Sydney Children’s Hospital.
Rach and Jonny learnt that SMA is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to death. In Mackenzie’s case, it is extreme, rapid and terminal. Suddenly, their lives had completely altered in a way they could never have predicted.
Mackenzie will slowly lose muscle movement, and she will lose the ability to feed, then swallow and ultimately breathe. As there is currently no known cure, babies like Mackenzie with SMA Type One live on average to just nine months.
Although not widely known or screened for, SMA is the number one genetic killer of babies under two years old. The chances of any person carrying the disorder are one in thirty-five. When two carriers have a baby, there is a one in four chance the baby will have the disorder. Rach and Jonny did not know they were carriers.
Because there is currently no medical cure, Rach and Jonny have been dealt this brutal blow with no power to fight, protect her or heal her. All they can do is spend as much time left with her as her condition will allow, and make her time as comfortable and fulfilling as possible.
Mackenzie did nothing other than being a perfect baby. She smiles, coos and brings joy to all of us around her.
Rach and Jonny’s future is now to arrange the best palliative care for Mackenzie. They will make sure she smiles as much as possible through dancing, music, games, love and cuddles for as long as they can. They will be there.
This is why I, as Rach and Jonny’s friend, am asking that you please help.
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 ease the financial burden on this family by helping with expenses, and giving Mackenzie the best care possible.
If you can help at all please do. Otherwise, please share this if you can.
Thank you x