Our Daughter – Inspiring a $500m Australian Genomics Program
On the 11th of March 2017, my husband Jonathan and I had our first baby, a beautiful girl called Mackenzie. It was love at first sight; we knew our world had changed forever.
Mackenzie was a very planned for baby. As a couple, we did fertility tests, health checks, took prenatal supplements and did all the recommended baby health checks including the non-invasive prenatal test which screens your baby for chromosomal abnormalities.
When Mackenzie was 10 weeks old, our happy, blissful world was ripped away from us when she was diagnosed with Spinal Muscular Atrophy (SMA) type one. SMA is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting. In essence, we were told that Mackenzie would slowly lose her ability to move, to swallow and eventually to breathe. We were told to expect that Mackenzie would most likely pass away before her first birthday. SMA is a cruel, devastating disease that we hate with every cell in our bodies.
SMA is a recessive genetic disorder, meaning both Jonny and I unknowingly carried the disorder deep in our DNA. It only shows up if a couple who both carry the same recessive genetic disorder, have children. This means that each of our children would have a 25% chance of being affected by SMA (and a 50% chance of being SMA carriers themselves). We have no family history of SMA but it is obvious now that it has been carried through both of our families for generations.
SMA is not the only genetic disorder out there, in fact there are thousands. We have learnt that on average, every single person actually has between three and five lethal genetic disorders in their DNA. What happened to us could happen to anyone, we are not special or different and what happened to us is not so rare. In fact, if you combine the top three recessive or x-linked genetic disorders – SMA, cystic fibrosis and Fragile X, one in twenty people carry the genes for one of those disorders. Plus, taken together these three conditions have the same prevalence as Down Syndrome. These statistics are terrifying.
Currently, there are simple blood or saliva tests available to test if people carry some of the more common recessive genetic disorders, but most people aren’t told about these tests. Even most GPs don’t know about them. If they do know, medical professionals usually only refer people for the test when there is a family history. However, three out of four children born with a genetic disorder have no family history, so this current practice is flawed and dangerous.
As we learned more about genetic disorders, we were stunned that so little was being done to lessen the risks of children being born with one of these potentially debilitating, at best, or at worst, lethal, disorders. The effects of genetic disorders on Australia, on our families, on our children is profound but usually occurs out of sight of the public eye.
Last May 2017, after Mackenzie was diagnosed with SMA, as a family we sat down and discussed what we could do. I decided to draft a letter introducing Mackenzie, telling our story, and outlining what we thought Australia could do, particularly in the space of genetic carrier testing.
Once my letter was finished, my parents hand addressed it to every member of Federal Parliament. That is around 275 letters! Tucked into each letter was a photo of Mackenzie. My parents then personally delivered the letters to Parliament House.
In the letter we asked for:
1. a genetic carrier test to become routine in Australia and be subsidised by the Government. This testing would be offered to all prospective parents. If they decided to have the test, it would provide them with information about any recessive genetic disorder that they might carry and whether they were at risk of having a with a genetic disorder, as well as other information such as whether there is a treatment, etc.;
2. awareness to be raised about genetic testing amongst medical professionals as well as the wider Australian public; and
3. the Government to subsidise IVF and pre-implantation genetic diagnosis (PGD) for those prospective parents who needed it for genetic reasons.
We had a dream that one day we would see a reduction in the number of children with genetic disorders lying in Children’s hospitals all over the country.
Over the next couple of months, we spent every minute living life with Mackenzie and making memories; but when she was asleep we would continue to push our campaign.
We began receiving responses to our letters. Most agreed with our dream and many wrote to the Federal Health Minister Greg Hunt to show their support. Some went even further and called wanting to know how they could help us.
Over the coming months we met with members of both the NSW and Federal Parliaments, including NSW Health Minister Brad Hazzard. Along the way, we also met a number of brilliant, kind health specialists and researchers who had all been trying for decades to make genetic carrier testing routine. During this time, I also began writing media articles, posting on Instagram and started a blog in an effort to get our message out there.
Of course there were some disappointments. A few media organisations ignored our requests; trolls stalked my Instagram; and we wasted time meeting with influential people who only met with us as a token gesture. Overall however, the response was overwhelmingly strong and positive, just like our daughter.
Slowly we built an army, Mackenzie’s army.
In February 2018, we met with the Federal Health Minister, Greg Hunt. I cannot adequately express to you the kindness, compassion and genuine nature of this man and his team. He cried with us for Mackenzie and promised he would create change, a legacy for our daughter.
“Slowly we built an army, Mackenzie’s army.”
This pilot study of pre-conception screening trials is for rare and debilitating birth disorders including Spinal Muscular Atrophy, Fragile X and cystic fibrosis . This will test 10,000 couples over the next 2-3 years.
Following this, the rest of the $500m will go towards a genomic program which will cover:
1. Creating a more expansive genetic test which will be made routine and be subsidised in Australia;
2. Raising awareness of genetic testing;
3. Treatments and research for genetic disorders; and
4. Funding of IVF and PGD for those who for genetic reasons, need these to have children without these genetic disorders.
The Australian Government gave us everything we asked for and more.
On the 22nd of October 2017, Mackenzie passed away lying between Jonny and I. Our little girl was gone. She lived a life filled with nothing but love and laughter. We cannot fully convey in words the pain we felt and are still feeling over losing our beautiful daughter. Our heartbreak transcends language. We will be forever grateful to her for what she taught us and the love she gave us.
The announcement of ‘Mackenzie’s Mission’ is bittersweet for us. We would do anything to have Mackenzie back, but we can’t change what has happened. All we feel we can do is to help to change what happens to others in the future.
“In her 7 months and 11 days, she managed to create a legacy that will live on, and we are so very proud of her. .”
Since the announcement, countless people have been working tirelessly behind the scenes to get Mackenzie’s Mission up and running. Setting up a national genomics program is a huge task but one those involved in are honoured to be part of.
Personally, I am on multiple committees including the Mackenzie’s Mission steering committee. I take my responsibilities very seriously and feel privileged to be part of building our daughter’s legacy. Although at times I feel out of my depth given the intelligence of the people around me, I have to remind myself I hold a quality others don’t. Personal experience.
Genetics isn’t always an easy topic to discuss. There will always be people who don’t agree with genetics, people who feel we are doing too much, not enough or who simply want to be negative. However, we push past this, knowing what we are aiming to do will save lives, pain, suffering and will provide information, knowledge, power and choice.
Below is a copy of a presentation I gave at the Human Genetics Society of Australasia which took place in August 2018. I hope it begins to explain what we are trying to accomplish and why.
For more information on Mackenzie’s Mission please see:
For those who want to undertake genetic carrier testing and want to know more please see my blog post on genetic testing.
Thank you again for your interest and we hope you continue to support Mackenzie’s Mission into the future.