A couple of weeks ago Mackenzie’s mama Rachael left a comment on one of my Instagram posts about Pregnancy and Infant Loss Remembrance Day. As much as she supported the day, she was frustrated the day only remembered pregnancy, stillborn and newborn loss. She went on to explain that her 7 month old baby girl was diagnosed with a genetic disorder and would not likely make it to her first birthday.
I immediately offered my platform for Mackenzie to raise awareness for this neuromuscular disorder which is the number 1 killer of babies under 2 years, and essentially preventable with proper screening. Rachael sent me Mackenzie’s story -I went back to her a few days later and asked if she could send me some of her favourite images of her and Mackenzie.
Yesterday I received this email
” Thank you so very much for supporting my family. Most importantly my beautiful Mackenzie. I can barely even write the words but my perfect baby girl passed away on Sunday. I am utterly broken….”
Rachel is even more determined to fight for more accessible genetic testing. Please read Mackenzie’s story below- and if you can, there is a go fund me link which was set up so the family could enjoy the time with their baby girl. Rachael is now dating proceeds to The Sydney Children’s hospital who looked after Mackenzie.
Fly high baby girl. Your mama is going to make a difference in this world because of you. Marcia xx
BY RACHEL BANHAM (@MYLIFEOF_LOVE)
‘A boring pregnancy’. That is how my pregnancy was described by our doctor. It was so smooth. No morning sickness, my lifelong back pain got better, the only craving I had was fruit salad and I was so very happy.
The birth however was anything but boring. I was induced at 40 weeks, 48 hours in labor, 10cm dilated and two hours of pushing before I was told my baby girl was posterior and I needed to have an ’emergency’ cesarean. I didn’t mind. I figured every pregnancy and birth is different. You can’t win them all. I had my baby girl. We called her Mackenzie and she was pure perfection. I have never felt happier and more at peace with life.
My husband, Jonathan, and I had ten blissful weeks with Mackenzie before our world was destroyed.
At ten weeks old I took Mackenzie to a lactation consultant because she was finishing each feed by crying. The consultant mentioned she seemed ‘floppy’. I instantly felt worried and made a doctors appointment for 40 minutes later. The doctor advised us we needed to see a pediatrician as soon as possible. Two days later we walked into a pediatrician’s office. He looked at Mackenzie and within two minutes he stated he believed she had Spinal Muscular Atrophy (SMA) type one. This was confirmed the next day by a neurologist. Our world fell away.
I shut down. Everything went blurry, muffled and I felt like collapsing. I remember looking at Jonny and said ‘what just happened?’. We walked into that office thinking we just were lagging in her tummy time.
SMA is a ‘rare’ neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting, often leading to death. In Mackenzie‘s case we have been told it to be extreme, rapid and terminal. Whilst there are trial injections that help delay the onset of symptoms there is no cure. Our future is now to arrange the best palliative care for Mackenzie.
We are now going to have to watch our baby slowly loose muscle, movement, the ability to feed, to swallow and finally to breath. The average age babies with SMA type one live to is nine months with a maximum of two years. We are broken by our new reality. We can not speak let alone breath. The shock is enormous.
I can not express the love we feel for Mackenzie. We may be biased but we feel she is the most beautiful baby that ever existed. Her smile melts us. All gums, blue eyes that sparkle and two gorgeous dimples each side. Not to mention her personality. She is all love, laughs and joy. Her future would have been limitless.
Now all we can do is make sure she smiles as much as possible through dancing, music, games, love and cuddles for as long as we can. We are focused on making memories with our baby. Mackenzie and I are lucky that Jonny brings so much entertainment and happiness to our loved. He is Mackenzie‘s best toy.
We had never heard of SMA. Neither had our family or friends; however, we soon learnt it is the number ONE killer of babies under two. How then can no one have heard of this disorder? We can only assume it is because babies often don’t make it to one year old. However, some medical professionals we have spoken to haven’t heard of SMA!!
One in thirty five people are carriers of SMA. If two carriers have a baby there is a one in four chance of the baby having SMA. These statistics are astounding to us. 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 test for Down Syndrome.
We have since learnt that a person can find out if they are a carrier through a simple blood or saliva test during pre-pregnancy screening. There are two main places in Australia https://www.counsyl.com/ or https://www.vcgs.org.au/tests/prepair
We undertook all the tests offered to us before and during pregnancy including other genetic testing (harmony test), ultrasounds, fertility tests, pre-pregnancy health blood tests and even accupunture to get my body ready. But we were not offered this easy genetic carrier testing. This is because they only offer the test if you have had someone in your family who have had it. But 4 out of 5 children born with genetic disorder do not have a family history of the disorder.
Research shows that on average everybody has 3-5 lethal recessive disorders. We now have the technology to stop the pain, suffering and cost to families of terminal or life long severe disorders. SMA is not curable but it is 100% preventable through this genetic testing.
Due to the new reality we find ourselves in we are communication with the NSW and Federal Health Ministers to try to create change for Mackenzie. We want to help raise the awareness of pre-pregnancy genetic testing amongst people planning a pregnancy and health care professionals. This testing already exists, people just need to know about it so they can make an informed choice. There is a general lack of awareness of these genetic tests even amongst health care professionals. We have had a good response from Parliament including from the Prime Minister, state and Federal Health Ministers and opposition party.
Whilst we know this genetic testing is a controversial topic going through the pain we now are, we truly believe carrier testing should be routinely offered to people as part of pregnancy planning, even if you have already had a child. It is an individual decision. One you do not have to take if you do not agree with it but the option should sit there to be taken up by those who do believe in it. Anyone who has not been told they have to watch their child die; that they will not watch their baby turn one can not fathom the pain involved. We are not talking about genetic testing to lick eye colour, we are talking about terminal life shattering disorders.
Now to give Mackenzie siblings we have to undertake IVF. The embryos created through IVF will have to be tested before they are implanted. An expensive process but one we have to do.
My husband and I feel 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… We would now not change having her in our life no matter how short a time. But we should not have had to go through this. Mackenzie shouldn’t have to go through this.
We are also lucky in that our friends and family have joined forces around us to shower us in love, look after us and start a Go Fund Me page https://www.gofundme.com/making-memories-mackenzie-casella#
This leaves us free to focus on making Mackenzie‘s life happy, comfortable and filled with love while she is here. We are making memories with Mackenzie. Finally it also allows us to do something important with this information we have been given. We will make change for Mackenzie.