This post is so hard to write… once it is written I won’t review it. I just can’t … *deep breath*
My husband, Jonny, and I prepared for over six months before we got pregnant. Based on advice, we did every test and pre-pregnancy preparation we thought we needed to give us the best chance for a healthy baby.
On 11 March 2017, our planned for, very loved baby girl was born. We called her Mackenzie and she was pure perfection. I have never felt happier and more at peace with life. It seemed our lives had fallen into place.
Mackenzie was our second baby, we miscarried our first baby early in the pregnancy. This meant Jonny and I spent all of our pregnancy with Mackenzie worried we would miscarry again or that she would be stillborn. When she was born we breathed a sigh of relief. She looked perfect.
The hospital’s paediatrician checked Mackenzie and told us that she looked good but had a slight heart murmur. They said it was likely to fix itself, but she would need to be checked at around eight weeks old. The news terrified us, but we tried to put it to the back of our minds for those weeks. When she was examined at eight weeks, we learned it had fixed itself but something much worse was waiting for us.
Jonny and I had ten blissful weeks with Mackenzie before our world fell apart.
When Mackenzie was ten weeks old I took her to a lactation consultant because I was concerned that she finished each feed by crying. The consultant said that there was no problem with her feeding but mentioned that she seemed ‘floppy’. My initial thought was, “No, she isn’t, she is perfect.” Then the nurse pointed to a baby boy on the change mat next to Kenzie and said, “He is about 10 weeks old and that is what she should be doing.” When I looked, I saw that this baby was on his tummy and had pushed his chest off the ground with his forearms. My stomach sank. I knew something was wrong. Kenzie didn’t do that.
I practically ran out the door cuddling Kenzie close to my chest. I kept thinking that it must just be a lack of tummy time. I told myself, ‘It will be ok, it will be ok.”
We had just moved to a new house and so we didn’t know any of the doctors around the area. So, I quickly drove to the nearest medical centre and made an appointment. The doctor that I saw didn’t alleviate my concerns. She immediately called around trying to find a paediatrician. The very fact that she was trying so hard to get us an appointment quickly made me even more concerned than I already was. But she couldn’t find anywhere that could take us in under a week.
But I couldn’t wait for a week. I ended up calling another paediatrician I had heard about. Like all the others there was a long wait for appointments, but after I burst into tears on the phone to reception, they squeezed us in for an appointment two days later.
Little bub has decided the car isn’t for her anymore. This is so tough because I’m used to being out and about but now she just cries the whole way. Hopefully it is just a phase… So we are having an at home weekend. What do you do when you are at home? Dress your babes up in unicorn attire of course! ???? #unicorn #10weeksold #cutiepatootie #babygirl #carhater #mackenziesmemories @kmartaus @countryroad @adairs @pretty.in.pine
For the next two days we both watched her carefully. We justified each movement, practiced swatting at her hands and even forced her to do the tummy time that she hated so much. She cried every time. Jonny convinced himself that it was our fault that she was so floppy and weak, and that somehow we hadn’t done enough tummy time exercise with her.
Two days later we walked into a paediatrician’s office. I have never felt so nervous in my life. I was nauseous, my whole body tingled with fear, and my palms were sweaty. I felt faint. The paediatrician asked us a few questions and then asked us to undress her, apart from her nappy. Then he moved her around, as she lay on the examination table, watching how she reacted. I was watching her so closely. I kept thinking, “This is MY baby, she is fine. We just have to do more tummy time with her.”
After two short minutes, he turned to us and said that he believed she had Spinal Muscular Atrophy (SMA) type one. He said fast, factually, without much emotion. We had never heard of SMA but even the sound of it wasn’t good. Since he told us with such little show of sympathy, we both felt that there must be a solution so we asked the obvious question, “What is the cure?”
He said flatly, “There is none. It is terminal.”
Terminal. Terminal. Terminal. Terminal. The word echoed in my mind.
And just like that, our world fell away.
I shut down. Everything went blurry, sounds were muffled and I felt like I was going to collapse. I stood over her as she lay quietly in her nappy on the bench. I held her hands and she stared up at me. We locked eyes but she knew nothing of the knife that had just torn through my heart. She lay there oblivious to my turmoil, smiling up at me. I went to pick her up but my legs were shaking so badly I hesitated. Instead I started to automatically dress her as I heard Jonny‘s voice asking questions. He had gone straight into work mode wanting to know all the details. I didn’t hear a word of what was said.
My mind kept saying, “This isn’t happening, this isn’t happening. He is wrong!” … But I knew that he wasn’t. I picked her up and rocked her, and myself. At one stage, I turned to Jonny and said, “What just happened?” We had walked into that office thinking we were lagging in her tummy time, just a simple developmental delay, but now… it felt like, “How is this happening? It isn’t. It can’t be!”
He told us that there was a new clinical trial of a drug, which was showing good results. The trial was only four months old but some were already calling the drug a miracle treatment. We clung to that hope as we left his office with a referral to a neurologist.
We walked out in silence. Without a single word exchanged, Jonny and I carried our baby out of the hospital and down the street. All around us there were people walking along in their ‘normal’ world, like nothing had changed. A drunk sat on the corner drinking a bottle of wine. I wanted to smash the bottle out of his hand and scream, “How can you wreak your body like that when my daughter doesn’t even get a chance at life. MY BABY WILL DIE.” Instead, we walked in silence, and people were bumping into us, not bothering to go around. It seemed that the world was too busy to stop for us. We walked into the carpark and placed her in her car seat. We got into the car and sat there with the tears running down our faces.
We were in a daze, taking her home. After we got home we called both sets of parents to tell them what the paediatrician had said. I don’t know how we made those calls, half crying, half stunned, still not believing. They were shocked by the news and no-one knew what to say. What was there to say?
Our appointment with the neurologist was the next day. We could not sleep that night. I cried all night, and watched her little face, held her hands, whispered to her, loving her.
We kept saying to each other, “This isn’t happening. This isn’t happening. We are good people. We are police officers, we pay taxes, we give to charity. We planned for her, she is here, she is perfect.”
I am not religious but I started bargaining with someone out there. Any one. Any god, any higher power or spirit that would listen. ‘Please…’
I know, and I will never be convinced otherwise, that there is no god. For some, the thought of a higher power helps and comforts them, but now the idea just mocks me. No god would give a baby a terminal illness. No god would make a parent watch their child die but give them no power to change it. There is no higher purpose to her dying. Don’t try to tell me there is. You haven’t experienced what I have. I’m not saying this to hurt anyone with a faith but I am being honest. These are my thoughts and my feelings.
The next day we drove to the neurologist’s office, silent and terrified. We walked into her office and, once again, Kenzie was put through movement tests. The neurologist turned to us and said that she was 95% sure that Mackenzie had SMA type one but would need a blood test to confirm the diagnosis.
Naturally, we wanted to know more about the ‘miracle’ injection. But, from what we were told, it was clear that this drug was not such a miracle, after all. Whilst a huge medical advancement (there being no other treatment for SMA), the injections might, at best, delay the onset of more severe symptoms. This meant that Kenzie would simply be older and more aware of what was happening, when she died. The neurologist told us that there was no cure.
‘No cure.’ I kept repeating those words silently to myself, trying to understand. As the neurologist spoke to us, the room slowly filled up with more and more people. There was a nurse, an assistant, a geneticist, a social worker… and gradually the seriousness of our situation become clear to us. We were thrown information about Kenzie’s condition, her prognosis, treatment options, and then, palliative care. Reluctantly, we discussed a resuscitation plan. I still can’t imagine that we had to make a resuscitation plan for my baby (it’s a medically authorised order to use or withhold resuscitation measures and treatment at end of life) and we were actually required to do this. Finally, we discussed our prospects for more children.
It all felt surreal. In fact, I cannot really describe how we felt. It’s as if my heart broke into pieces that day. It felt like a living nightmare and we couldn’t wake up. We haven’t really woken up from it since that day.
We learned that SMA is a neuromuscular disorder, classed as ‘rare’, characterized by loss of motor neurons and progressive muscle wasting, often leading to death. It is the child version of motor neuron disease – that had a lot of media attention with the ice bucket challenge.
In Mackenzie’s case, we were told that she had the most severe form; the progress of the disease would be extreme, rapid and terminal. We were advised that we had a matter of months to create memories with her. From that moment, we didn’t waste a second. We travelled to as many places as we could with her within Australia, spent time with family, and learnt everything we could about our daughter. We memorised every inch of her, her smell, her touch, her sounds. Everything is now etched into our memories. We ran around living when we wanted to move and stopped to spend quiet time with her when that felt right. She was the perfect baby. So chilled and interested in everything around her. She let us show her what life is.
But somehow along the way, we’ve also tried to make some good out of it for ourselves and for her. We are doing what we can to help raise awareness of recessive genetic disorders like SMA and availability of carrier screening.
We had never heard of SMA. Neither had any of our family or friends; however, we soon learnt that it is the number ONE genetic killer of babies under two. It is largely unknown by anyone, except specialists, because often babies with SMA type one do not live past the age of two.
One in thirty-five people are carriers of SMA. Carriers do not have symptoms but, if two carriers have a baby, there is a one in four chances of each baby being affected by SMA, and a two in four chance of a baby being a carrier themselves. These are astounding statistics. This ‘rare’ neuromuscular disorder doesn’t seem so rare. Why hadn’t we ever heard of SMA?
Currently doctors only refer someone for pre-pregnancy genetic screening if they have a family history but we didn’t have any family history of SMA. And four out of five children born with a genetic disorder had no family history. Studies show that we ALL carry approximately three lethal recessive genetic mutations. That is a scary statistic. But we can do something about it.
In fact, a recent study by Murdoch Children’s Research Institute shows that the combined affected pregnancy rate of three of the most common recessive genetic disorders, that is SMA, cystic fibrosis and Fragile X Syndrome, is comparable to the risk of Down Syndrome. In Australia, we routinely test for Down Syndrome and, as this study recommends, we should routinely test for these recessive genetic disorders.
Listen: Vanessa Cranfield’s raw description of raising Gretel, her daughter with Down Syndrome, on No Filter. Post continues after audio.
SMA (and other recessive genetic disorders) may not be curable but, right now, it is preventable through pre-pregnancy or early pregnancy genetic testing of the prospective parents. We have also learned that, as part of pre-pregnancy screening, a person can find out if they are a carrier of a recessive genetic condition, like SMA, cystic fibrosis and Fragile X Syndrome, with a simple blood or saliva test. More information about testing in Australia is available at Counsyl or Prepair.
Due to our new reality, we have spent the last seven months in communication with the NSW and Federal Health Ministers to try to create change in Mackenzie’s name. We want to help raise awareness of pre- and early pregnancy genetic testing amongst people planning a pregnancy and health care professionals. As this testing already exists, people just need to know about it so they can make an informed choice on getting tested and doctors need to know how to refer someone. Unfortunately, there is a general lack of awareness of these genetic tests even amongst health care professionals such as GPs.
Generally, we have had a good response from Parliamentarians, and have heard from a number of influential people including key Government Ministers and the Opposition. But we are not done yet. There is more to do as we want to see genetic carrier testing become routine in Australia. If you find out that you are a carrier then, at least, once you are informed you can make your own choices. You will have options.
On 18 October 2017, Mackenzie suddenly fell ill with a cold. The first sign we knew that something was very wrong was when she began to struggle to breathe and stopped breathing briefly. We rang an ambulance and waited, panic stricken, whilst trying to get her breathing again. I rode in the ambulance holding my baby, singing in her ear. We found out that, given Mackenzie had SMA, her lungs and breathing muscles weren’t strong enough to help her clear the mucus caused by the cold. It had collected in her lungs, collapsing her right lung.
After two days in hospital, we were still hopeful that we would be able to bring our baby home, but then she crashed. On Saturday 21 October 2017, her haemoglobin levels showed that she was bleeding into her stomach. For 24 hours, the doctors tried to control the bleeding and she was given blood transfusions but nothing worked. The bleeding continued. She was also dependent on the ventilation machine. Her treatment became comfort. We knew what that meant. That night we moved in to a double bed with her. We played her favourite music, held her, talked to her and slept close to her.
Last Wednesday our beautiful daughter Mackenzie suddenly fell ill. For four days she fought like a warrior. Yesterday Mackenzie passed away peacefully laying between us surrounded by love and her favorite music. Our baby girl is gone. Our world has lost its brightness and colour. Instead our shooting star will be now and forever lighting up the sky. We are lost without you. Our world has no direction. We love you. We miss you. Thank you. #mackenziesmemories #changeformackenzie
On Sunday, 22 October 2017, we took off her oxygen mask. Mackenzie passed away at Sydney Children’s Hospital lying between the two of us, feeling our love. After some time spent cuddling and talking to her, I changed her nappy, washed her. Together, we dressed her, and wrapped her in a blanket. I picked her up and walking beside Jonny, I carried her down to the morgue. Together we placed her on the table because we did not want anyone else to do it. She was just a baby, our little girl. We didn’t want to lose her. But we did. Our hearts are forever broken, missing a piece.
There are so many families out there affected by recessive genetic disorders they didn’t know they carried. Please make Mackenzie’s short life have purpose – get yourselves carrier tested. It is easy. Protect your family.
Change for Mackenzie.
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