On 22 October 2017, my husband Jonathan and I held our beautiful little girl in our arms as she took her last breath. Despite all the planning and preparation to have a healthy child, we did not know about genetic carrier screening and could not save her from the terminal illness we unknowingly passed onto her. What happened to us could happen to anyone. We are not special. We don’t want anyone to go through the pain we have gone through. Now it is time to tell people what we had wished we had been told.
Let me start by backing up a little. In 2016, when my husband, Jonathan, and I were planning for our first pregnancy, we did EVERYTHING (well what we thought was EVERYTHING) to make sure we gave ourselves every chance to have a healthy baby. Those who know me well know I am a type A and a slight OCD person. I. Plan. Everything.
To pregnancy prep, we took:
Fertility testing. Yes, even before we started trying for a baby, I had my egg levels checked, and I made poor Jonny have his sperm checked
We both saw a Chinese herbalist/acupuncture specialist to help balance my hormones and Jonny to have super sperm
I had the usual pre-pregnancy blood test which looked at our iron levels, STIs, vaccination immunities etc.
I had a pap smear
I went to the dentist
I took pregnancy vitamins
Once I fell pregnant, we had all the scans and screenings offered to us. We had the initial scan to see the heartbeat, the 12-week nuchal translucency scan and later the morphology scan. I also had the Non-Invasive Prenatal Testing (NIPT). I thought this tested for genetic conditions, but don’t be mistaken it doesn’t. It checks for chromosome conditions only, like Down Syndrome.
We thought we were having every test you could have or, at least, every test we were told about. We were wrong... We weren’t having one of the most important tests we needed to have, which is called genetic carrier screening to find out if we, as parents, are carriers of any recessive genetic disorders.
We successfully fell pregnant. It was a perfect pregnancy, and I loved every minute of it. On 11 March 2017, our beautiful daughter Mackenzie was born, and our lives never felt more full and at peace. But at ten weeks old, it was noticed that she wasn’t moving as much as she should. Within two days, she was diagnosed with Spinal Muscular Atrophy (SMA) type one. We were told it was a terminal genetic condition that we had both unknowingly passed on to her.
Mackenzie died when she was seven months and 11 days old in our arms. To say, our world fell away doesn’t even begin to describe our pain.
What are genetics, and how does it affect you?
SMA is the number one genetic killer in babies under two, but hardly anyone knows about it. Not just everyday people like you and me but it is largely unknown even among healthcare professionals. SMA is the childhood version of a motor neuron disease. It meant that the motor neurons in Mackenzie’s spinal cord were not conveying messages to her body. She lost the ability to move and became trapped in her own body. Eventually, she lost the ability to swallow and finally to breath. It is a cruel, cruel disease…
SMA is just one of the thousands of genetic disorders. If we had done a genetic carrier testing, we would have found out that both Jonny and I carry the SMA genetic mutation. In fact, around 1 in 35 people carry this SMA mutation.
But that isn’t even the half of it. Every single person carries on average 3-5 lethal genetic disorders in their DNA. Yes, you reading this, you carry genetic conditions. But as a carrier, you are not affected by the conditions. Whether you pass on your genetic condition to your child who could be affected by the condition depends on who you have children with.
Did you know that according to the Jeans for Gene’s website outlines that 1 in 20 children are born with a genetic disorder or birth defect? This is a staggering statistic. So why don’t we hear about genetic conditions more? Society is bad at these conversations.
There is a test that you can take to find out what you carry and whether together with your partner, you will have a child who is at risk of a genetic condition. It is called a genetic carrier screening test, and it is a simple mouth swab or blood test. Previously doctors only referred patients to get the genetic carrier testing if there is a known family history of a genetic disorder. However, 4 out of 5 families do not have a family history (we didn’t). So, this current practice is so flawed and dangerous. Luckily, this is changing, and the guidelines now say all prospective parent should be offered this test. But it is still not common practice to offer it, so it is up to patients to ask for it!
No one took the time to explain genetic testing to us before we got pregnant, but we do not want anyone going through the pain we are now experiencing. This is a summary of what I know about genetic testing and what you can do to protect yourself and your family. I wish someone had told us about this.
Obviously, I AM NOT a medical professional, so this is based on my experience, knowledge, and research. It is also a continually evolving field, and by the time I press submit on this post, something in this space will have changed.
Dummies Guide to Genetics and Recessive Genetic Disorders
Our bodies are made up of billions of cells. Inside each cell are chromosomes and inside the chromosomes are our genetic material. We get 23 chromosomes from our Mum and 23 chromosomes from our Dad. When a couple is pregnant, they are usually offered the NIPT test, which costs around $500. It is looking at the babies chromosomes and also tells gender. It is determining if there are the 23 pairs. If there are too many or too few, that is when chromosome conditions occur.
However, if we look inside our chromosomes, we can identify genes. Genes are building blocks that make proteins. Genes are like a blueprint to make a machine and proteins are the individual proteins of that machine. Proteins make us who we are and help us grow up and function properly. Our genetic material is made up of DNA.
We all have small variations in our genetic code, like a spelling error. A gene which has an error is called a fault or a mutation. Fault genes occur commonly through chance. They are not related to anything a parent gave them in any way.
Once again for each gene, we have two copies, one from our Mum and one from our Dad. Sometimes a person will have a fault in one of their genes and are called ‘healthy carriers’ like what Jonny and I are. In other words, they have the fault in one of their genes but are not affected from it because they have a healthy back up from the other parent that can take over the work for the faulty one. As I said earlier, every one of us is a carrier of several fault genes.
There are a few ways that parents can pass on these faulty genes where the child is not just a healthy carrier of a condition but is affected, meaning they have health consequences which are sometimes serious and lethal.
The most common way is through autosomal recessive condition, which is where both parents carry the same faulty gene. When two people who have the same faulty gene get together and have children, there are three possible outcomes:
A 25% chance the child is affected by the genetic condition
A 50% chance the child will also be a healthy carrier
A 25% chance that the child will not be a carrier or affected
In our family's case, Jonny and I both are healthy carriers of SMA. We had no idea we were carriers; it had been passed through our family for generations. Then when Jonny and I got together, it unlocked the condition. Mackenzie got the faulty copy of that gene from me, and the faulty copy of the gene from Jonny meaning Mackenzie was affected. I cannot possibly begin to explain the pain that this tiny fault in DNA has caused our family.
Genetics are important, so is self-education. Do not think it won't happen to your family or someone you know. We are average normal people, and it happened to us.
Reproductive Genetic Carrier Screening
You can find out if you are a carrier of a recessive genetic disorder through a genetic test. It is a simple blood or saliva test. The test is on you, not your baby.
The test is best to get done before you get pregnant. That way, it is easier to make decisions around how to conceive if you come up as being an at-risk couple. However, it can also be done in early pregnancy, the first trimester. This is good because around 50% of pregnancies in Australia are unplanned.
In my opinion, it is the most important test to do when preparing to have a child. It allows you to make sure you are not passing on something to a child, something that could make the child's life painful, unfair and, in some circumstances, kill them.
Even if you already have a child who is healthy, it does not mean you might not still be a carrier and could pass on a genetic disorder to future children, given there is a one in four chance that a child is afflicted. Some people have had three healthy children before having one who is affected.
How do you get tested?
There are quite a few genetic tests in Australia. They all vary in how many genetic conditions they test for and how much they cost. To get a list of some of the tests within Australia go to: https://www.mackenziesmission.org.au/other-options-for-carrier-screening/
I personally do not have a preference, technically being part of Mackenzie's Mission (I'll speak to this soon) I can't have a preference, but I can tell you about the test that my friends have used. Also, the reason why I mention this one is because you don't have to get a referral to a doctor, you can just buy it online yourself, and if you come up as high risk, they have Genetic Counsellors who will contact you and support you. Plus they have Afterpay – I know that sounds weird but very few couples can afford this money upfront, so it makes it more accessible.
Cost: Individuals $549 or Couples $749 (Afterpay possible for $40 a month) – it is worth it!
Eugene tests for 288 genetic conditions. While there are thousands of conditions, they have picked 288 of the most serious and prevalent to test for. It is just a simple mouth swab sent in the mail to you.
Look at the website
Order to test online
Your test is sent to you in the mail.
Do you saliva test
Mail it back to them
They will send you your results
If you are at high risk, a Genetic Counsellor will contact you to support
Other Known Tests
These tests are not currently covered by the Government and come at a cost which is something we hope will change with Mackenzie's Mission…
After Mackenzie's diagnosis, we began researching genetics, and with everything we learnt, we could not understand why genetic carrier screening wasn't offered routinely, so we set out to create change. I wrote a letter which we addressed and delivered to all 275 members of Federal Parliament.
Over the next year, we spoke to the media, posted on my Instagram @mylife_love and posted blogs on my website www.mylifeoflove.com we also began meeting with medical professionals who were pushing for the same change. Eventually, we made our way to the Federal Health Minister Greg Hunt. In the May 2018 Budget the then Treasurer Scott Morrison (with a lead from Federal Health Minister Greg Hunt) announced a $500 million genomic project making Australia world leaders with Mackenzie's Mission leading the projects being a $20 million genetic carrier testing pilot program.
On 1 June 2020, Mackenzie's Mission began providing genetic carrier screening to 10,000 couples across Australia. The program aims to answer several questions needing to be resolved for Australia to roll out this testing to all Australians for free eventually. That is the aim for 2022. Unfortunately, not everyone can be involved in Mackenzie's Mission. It depends on if your medical professional is signed up to be a recruiter, which is why it is important to know that there are ways that everyone can still get testing now.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and the Australian College of General Practitioners previously only had guidelines saying that genetic carrier testing should only be offered to those who had a family history. However, that has finally been reviewed and changed to provide medical professionals with more guidance. They now state all prospective parents should be offered genetic carrier screening.
"Information on carrier screening for the more common genetic conditions that affect children (e.g. cystic fibrosis, spinal muscular atrophy, fragile X syndrome) should be offered to all women planning a pregnancy or in the first trimester of pregnancy. Woman wanting more information about carrier screening should be given the opportunity to have a more detailed discussion about carrier screening with an informed clinician. The benefits and limitations of testing and any associated costs should be discussed."
However, it will still take some time for all medical professionals to learn that the guidelines have changed.
Options if You are Carriers
If you come back as being carrier/s of a genetic disorder and are at risk of passing on a genetic disorder to your children, there are options.
The first things you will discuss with your doctor or genetic counsellor is what the genetic disorder is, what the treatment options are and its severity. It may be a less serious genetic condition which as a family you decide you can live with. In which case, you may proceed to get pregnant naturally.
If, however, it is a severe genetic disorder or you want to be reassured that your child has no genetic condition passed on to them you can look at IVF, which is what we are doing. In IVF, they can test the embryos to check they don't have your genetic condition before they implant an embryo; this is called pre-implantation genetic diagnosis (PGD).
If you are already pregnant when you find out you would have an amniocentesis or a CVS which would be able to tell you if your baby was affected by the condition. It will be your own personal decision with whether you proceed with the pregnancy or not.
All of these decisions and options are valid. There is no right or wrong choice. There are a number of elements that people need to consider including the severity of the condition, treatment options, quality of life as well as your financial position, support network and your values and beliefs.
This test gives you information. It is about knowing. I know genetic carrier screening can be confronting, and some people prefer the head in the sand technique. Still, as someone who has lived through this, I can assure you it is much harder and scarier being told your child has a severe genetic condition after they are born than before.
While we know that routine genetic testing is a controversial topic, we are not speaking about hair colour or eye colour; we are talking about severe and lethal genetic conditions that can change lives. Carrier testing is about information.
It's almost impossible for anyone who has not been through what we have, to understand, to fathom the depth of the pain we feel or to make statements about what you would do in the position until you are actually faced with it.
Jonny and I have been trying hard to grow our family. Unfortunately, we have had a lot of hurdles to overcome. So far, we have just finished our ninth round of IVF and have lost another two children during pregnancy. But we remain hopeful. We know we will get our family. Despite life being so hard for us, we have so much love in our lives and still feel lucky. Our beautiful daughter has given us more gifts than we can possibly express, but we try to show people this gift in the book we wrote also called Mackenzie's Mission. I hope you will read the book and see how she turned our world into colour from black and white and became a hero for all of Australia.
Thank you, Rachael, for sharing this story with us. You can purchase Rachael's book, Mackenzie's Mission online or in-store at all good book stores now.