this story continues from my first post, "An Unexpected Journey"

It has been five months since we lost our daughter but still the words echo through my bones "I'm sorry, she has passed". Those were the doctor's words. Those words travel through my mind constantly. I was there for my daughter's last breath. I watched it, but I still can't comprehend it. My baby girl is gone. She is dead. She died. Those words are so brutal, confronting and shocking but they are real. My husband, Jonathan, and I lived through it.

On March 11, 2017, our very planned, very loved baby girl was born. We named her Mackenzie and she was perfect. Mackenzie was our rainbow baby, following a miscarriage we had earlier. We spent the whole pregnancy with Kenzie terrified that something would go wrong again. When she was born we breathed a sigh of relief. She was absolute perfection. We finally dropped our guard thinking she is in our arms, we created a life and we will get to keep her. But at 10 weeks old Mackenzie was diagnosed with Spinal Muscular Atrophy (SMA) type one.

SMA is a 'rare' neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting, often leading to death. In essence, a baby loses its ability to move their limbs, to swallow and eventually to breathe. It is one of the cruellest of diseases. It is the child's version of motor neuron disease brought into society’s attention through the ice bucket challenge.

In Mackenzie's case we were told it to be extreme, rapid and terminal. We would lose her and there was nothing we could do. There is no cure.

The average age of a baby with SMA type one is 8 months old; we got 7 months and 11 days. It was the greatest 7 months and 11 days of our lives, but each day was clouded over by the nightmare knowledge that each day we lived and laughed we were a day closer to losing her.

On the 18th of October 2017, Mackenzie suddenly fell ill. In the morning her breathing changed and she started turning white and blue. Terrified I called the ambulance as I yelled at Jonny, who was in the next room, as my Mum tried to get Mackenzie breathing.

I rode in the ambulance with Mackenzie as we sped, lights and sirens to Sydney Children's Hospital. Jonny followed in the car behind. When we arrived, there were so many staff, it was overwhelming but I was so thankful she was being looked after. She was put on oxygen to help her breathing, but she didn't like the mask. I hated watching her discomfort but they put on her on drugs so I knew the discomfort was not pain. We were transferred to Children's Intensive Care Unit (CICU). There we would find out she had Rhinovirus - the common cold.

Given Mackenzie had SMA her lungs hadn't been strong enough to clear the mucus caused by the cold. It had collected in her lungs, collapsing the right lung. For four days we watched her fight like a warrior. Do you know how long four days is when all you do is watch a heart rate machine linked to your daughter? At times we thought she was going to come home and other times we weren't sure. Every four hours they had to do chest physio and suction her. We had never seen this before, but it is quite distressing to watch. They tap her chest for around 15 minutes which she actually liked and usually fell asleep to, but eventually a tube would be pushed down her nose, down her throat and into her lungs. This would suck up any mucus she had which came out as they provided an assisted cough - basically they pushed down on her chest. That image is one that will stay in our minds forever. We are thankful she was on morphine.

At one point, she had what the doctors referred to as 'the event'. Her heart rate crashed and they had to work hard to stabilize her. They put the hand held oxygen bag on her mouth and ten people worked on her. It was just like the movies. I stood watching her at the side. Unable to help. Helpless. Watching my tiny baby. The nurse who held the oxygen bag to her face was calmly chewing on gum. Such a routine action whilst my baby’s life hung in mid-air.

On Saturday the 21st of October her hemoglobin levels showed she had an internal bleed. She was bleeding into her stomach. For 24 hours we tried to clot the bleeding and give her blood transfusions but it did not work. The bleeding continued. Her treatment became comfort. We knew we had just been handed our final few hours with her.

That night we moved in to a double bed with her. We played her music, held her, talked to her and slept next to her. On Sunday the 22nd October 2017, we took off her oxygen mask. Mackenzie passed away at Sydney Children's Hospital laying between Jonny and I feeling our love.

After some time cuddling and talking to her, I changed her nappy, washed her and we dressed her. Absorbing each touch, each smell, terrified of the next moment but knowing the worst moment of our life had just occurred. We wrapped her in a blanket and I picked her up. Walking beside Jonny, I carried her down to the morgue and we placed her on the table because we did not want anyone else to do it.

She is gone.

My family feels lost and broken. Everything is quiet; we have no one to care for. Our world has lost its color, its purpose is now gone. Our only comfort was she would never looked sick, act sick or know she was sick. She would only know her two parents loved her. She would only know happiness.

All we got was 7 months and 11 days with our perfect baby. Such a short time, but it was the best 7 months and 11 days of our lives. Not to mention the 40 weeks and 2 days I got to carry her. Despite everything, Jonny and I still feel we truly are lucky. We got to meet her and love her. Her smiling face gave us so much happiness. The 5 days in the hospital were hard, but the other 7 months and 6 days were pure happiness. Mackenzie was the happiest of babies. Always smiling, never crying.

After her diagnosis, Jonny and I struggled with knowing we would lose her, but the world forgot to tell Mackenzie she was sick. So for the time we had Makenzie she LIVED!!! Mackenzie let us live. She was sweet, kind, funny, smart and easy going. She never asked for a schedule or to sleep in one place. She ate when she wanted, slept where she wanted and when she wanted. This allowed us to make memories with her. Every second was perfection. We took her all around Australia including Broome, Byron Bay, Cairns, Hobart, Perth, Canberra and the Southern Highlands. Mackenzie went to the tropics, tasted snowflakes, had sand between her toes, was dipped in oceans, rivers and pools. She saw the Archibald's, Questacon, went to the Museum of Old and New Art and sailed on a yacht in Tasmania. Mackenzie went on most forms of transport you could list including a hovercraft and a helicopter. Knowing we would not get to one year we celebrated every 'monthday'. Jonny, Mackenzie and I were the three best friends this world has seen.

A little bit about Mackenzie. Her favorite song was Britney Spears 'One More Time'. Without fail it stopped her crying and sent her to sleep. She wore a top knot nearly every day of her life and boy could she rock it! She smiled ALL. THE. TIME. She loved her Dad and the fun he provided. With me she loved the cuddles. Emma was her favourite Wiggle, of course. She loved holding hands to send her to sleep and she coo'd when she was coming towards my boob like a kid seeing a Krispy Kreme doughnut. I miss her.

Since she left us, Jonny and I are permanently living on a knife's edge. We're trying to find the happiness in life that stops us from sliding down the wrong side of the knife's edge that leads to darkness. So angry the world took her away, but so happy it gave her to us. So angry she died so fast with little warning, but also so thankful her decline was not slow and drawn out. It is a draining balance to strike, but we are managing. We are doing it together.

I finally understand the quote "it is better to have loved and lost than never to have loved at all". Everyone knows what those words mean but to truly comprehend the feeling behind the saying is something else. I feel a more complete person having had Mackenzie and lost her than the person I was before I met her. Although the grief is enormous, the happiness far outweighs the pain. We have to remember this.

I won't apologize for how descriptive I have been about her time in hospital, because it happened. It was real, we lived it. To ignore it would be unfair. I have always been so honest about Mackenzie's story. Not because I want attention, I hate attention. But I have done it because it is the only way to create change for Mackenzie. I have made sure to keep some of the details of those few days to ourselves. Some personal memories just for us but I have shared our story and her death in detail and described the battle because every inch of her life deserves to be acknowledged. It is not as simple as 'we had a baby and then she died'. There are many moments that make up that time. I want people to know what pain SMA brings to a family. Because it is 100% preventable.

We had never heard of SMA. Neither had our family or friends; however, we soon learned it is the number ONE killer of babies under two. 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.

We have since learned that a person can find out if they are a carrier of genetic conditions like SMA, cystic fibrosis and Fragile X through a simple blood or saliva test during pre-pregnancy screening.

Studies show that on average, we all carry between three and five lethal genetic disorders in our DNA. Further, a recent study shows that when adding together the prevalence of SMA, Cystic Fibrosis and Fragile X it is as common as Down Syndrome. We routinely test for Down Syndrome. We should routinely test for genetic disorders like SMA. SMA is not curable but it is 100% preventable through pre-pregnancy or early pregnancy genetic testing.

Currently, doctors usually only refer someone for pre-pregnancy genetic screening (that is testing to see if you are a carrier) if they have a family history, but we didn’t have any family history of SMA. Actually, one in five affected children have no family history so this current view on genetic testing is dangerous and fails.

Due to the new reality we find ourselves in, we spent the last year in communication with the NSW and Federal Health Ministers to try to create change for Mackenzie. We want to help raise the awareness of pre and early pregnancy genetic testing among 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 among health care professionals.

We are so honored to announce that in February 2018, we met with the Federal Health Minister, Greg Hunt. In that meeting Minister Hunt announced ‘Mackenzie’s Mission’. Mackenzie’s Mission will be Australia’s largest health initiative under the Medical Research Futures Fund. It will provide the four pronged attack for Australia Genomics. First it will provide routine and subsidised genetic carrier testing for all Australian’s, secondly it will teach and train medical professionals about genetics, thirdly it will look into research and treatments for genetic conditions like SMA and finally it will provide options such as IVF for people found to be likely to pass on a genetic condition. It is due to be launched in Parliament next month. We could not be prouder that our little girl has a legacy that will save lives. Mackenzie will save other families the pain we feel each day.

Now, to give Mackenzie siblings we have to undertake IVF. The embryos created through IVF will have to be tested for SMA and chromosomal disorders before they are implanted. This is called Pre-Implantation Genetic Diagnosis (PGD). We are about to start our fourth round, it is draining and mentally very hard but it is what we need to do.

Despite all this we are so grateful.

My husband and I feel so lucky to have met our little girl. Mackenzie made us parents. That will never be taken away.

We are grateful that we were in the position to both have been able to take leave from our jobs as Police Officers. This allowed us to create memories with Mackenzie. It allowed us to be a family.

Mackenzie fell ill quite suddenly. She went from being healthy to passing away in four days. While too fast for us, we are grateful it was not a slow decline. She never went in and out of hospital. She never knew she was sick.

We are grateful that our family, friends and strangers have surrounded us with love, light and support.

Mackenzie and I were lucky that Jonny brought so much entertainment and happiness to our lives. He was Mackenzie's best toy. I would be lost without him.

Grief is difficult. It is difficult for the person experiencing it and also for those around them. We have had a range of emotions and have also dealt with a range of reactions from people. This process has taught me so much.

I have learned there are no rules for grief. Everyone deals with it differently and no two people will process it the same. So feel what you feel and don't be ashamed of what you need to do to get by. If you want to cry, then cry, if your tears have dried up that is ok. If you need to start trying to conceive again after losing a child that is ok, but if you need time to recover that is fine too. Grief is your own rollercoaster you have to ride. Don't let anyone try to lay down a track diversion. No one should ever tell you how to grieve.

To anyone who knows someone going through grief please don't be scared of them. Don't pull away or tell yourself they don't need to hear from you because they are busy or have enough people around them or your worries will just weigh them down. To be blunt that is selfish and just a lie you are telling yourself. They are still the same person you’ve always known - they are just in pain. Grief is lonely and can't be seen. If my grief was physical I would be bleeding from slash wounds battered, bruised and screaming. There would be ambulances and doctors trying to treat me. But pain is internal and hard to treat. Even the words of a stranger can help you. So reach out in some way. Say hi, bring them a coffee, send a food voucher, arrange a cleaner, send a text, leave them a note, put a hand on a shoulder - do something. They may not reply but that is ok. You reached out and they felt your love. Also please don't feel the need to explain away what happened. Don't say, "God works in mysterious ways" or "God has a plan" (especially to a non-religious person). There is no need to say "they are in a better place". You don't need to make it better or explain the world to them. Sometimes it is ok just to say, "This is so shit. There is no reason. I am so sorry". The main thing is just to remember them, acknowledge them. The hardest thing for someone grieving is that the world keep spinning.

Thank you for reading my story, for not pushing our story to the side because it is too hard. Thank you for acknowledging our beautiful baby girl who deserves to be seen. I hope you all can take something away from Mackenzie's beautiful, amazing life. There are things you can do to help, if you are planning a child or more children then get genetic testing or next time you are at your doctor ask them if they know about SMA or genetic testing, if they don’t, tell them about it.

A Mother's Grief, a Mother's Happiness, a Mother's Purpose by Rachael Casella