Our Story and Message (in a Nutshell)
Despite what we thought was all the planning in the world, my husband and I watched our daughter take her last breath. She died in our arms at 7 months and 11 days old. We don’t want anyone to go through the pain we have gone through so we have campaigned for change and created this website.
Let me back up a little when my husband, Jonathan, and I were planning for our 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:
had fertility testing (poor Jonny did this before we had even started trying just to keep me happy , he is such a unicorn man). Jonny had his sperm checked and I had my egg levels 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; and
once pregnant we had all the scans and screenings offered to us, including what we thought was genetic testing, being the Non-Invasive Prenatal Testing (NIPT).
Do not be mistaken the NIPT test otherwise known as the Harmony or Genesyte test is not a genetic test. It tests the baby for chromosome issues only.
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 genetic testing 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. At 10 weeks old, it was noticed that she wasn’t moving as much as she should. She was diagnosed with Spinal Muscular Atrophy (SMA) type one. We were told it was a terminal illness. Mackenzie died when she was 7 months and 11 days old. To say our world fell away doesn’t even begin to describe our pain.
SMA is the number one genetic killer in babies under two but hardly anyone knows about it. Not just every day people like you and me but it is largely unknown even among healthcare professionals.
SMA is just one of thousands of genetic disorders.
If we had done a genetic test we would have found out that both Jonny and I carry the SMA genetic mutation. Around 1 in 35 people carry this SMA mutation. What is worse is that we have since learnt every person on average carries approximately 3-5 lethal genetic disorders. What is more the Jeans for Gene’s website outlines that 1 in 20 children are born with a genetic disorder or birth defect.
Currently doctors only know to refer patients to to get reproductive genetic 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 flawed and dangerous.
No one took the time to explain genetic testing to us before we got pregnant but we don't 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 constantly evolving field and by the time I press submit on this post something in this space will have changed. So please speak to your doctor. However, be warned that a lot of healthcare professionals we have spoken to do not know about SMA and they do not know how to access genetic testing. This is not their fault and by no means do I want to throw mud at anyone. I have dear friends who are doctors and I know this area just isn’t taught in detail (this is something we are trying to change).
As well as seeing a doctor, another reliable source of information can be articles and studies published online, I have included some of these below.
Dummies Guide to Genetics and Recessive Genetic Disorders
Our bodies are made up of billions of cells. Inside each cells is our genetic material. Chromosomes are the packaging of our genetic material. We usually each have 23 pairs of chromosomes. We inherit one copy from our father and one copy from our mother. 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.
For each gene we have two copies, one from our mother and one from our father. Sometimes a person will have a fault in one of their genes and are called ‘healthy carriers’. In other words they have the fault but are not affected from it because they have a healthy back up in the chromosome they got from the other parent. Every one of us is an carrier of several fault genes.
There are a few ways that parents can actually pass on these faulty genes where the child is not just a healthy carrier of a condition but is actually 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 and a 25% chance that the child will not be a carrier or affected, see my second image.
In some cases the genetic condition is only needs to be carried by one parent to be passed on. It is scary stuff.
In our families case, Jonny and I both are healthy carriers of a genetic condition called Spinal Muscular Atrophy. We had no idea we were carriers, it had been passed through our family for generations. Then Jonny and I got together and Mackenzie was hit with the 25% chance of being 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. Don’t think it won’t happen to your family or someone you know. We are normal good people and it happened to us.
Reproductive Genetic Screening
You can find out if you are a carrier of a recessive genetic disorder through a simple genetic test (the test is on you not on your baby). It is a simple blood or saliva test.
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 I believe 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.
There are a few genetic tests within Australia and hopefully more coming soon, including Mackenzie’s Mission https://www.mylifeoflove.com/mackenzies-mission/
I will outline the steps in getting the easiest test but will also provide a list of the other tests I know about for people to look into:
Company: Victorian Clinical Genetic Services (VCGS)
Test name: Prepair
This test is $385 and tests for the ‘top’ three devastating genetic conditions being SMA, Cystic Fibrosis and Fragile X. To make testing cheaper you can start with just testing the woman as Fragile X is only passed on by the biological mother. If she is a carrier for any of the three, then you would test the man. Although if the test is being done when you are already pregnant it is best (in my opinion) to test both parents at the same time. This allows you to have time to look at your options if you are both carriers of the same disorder. The clinic is based in Victoria, Australia and is actually very easy to do (although most doctors don't know about it and may dismiss your request).
Simply go to your doctor;
Give them the name of the VCGS;
Get your GP to fill out the referral form;
You send VCGS your referral;
They will send you a saliva kit in the mail;
You send back your kit; and
They will send the results to your GP.
Other Known Tests
The Family Prep Test by Counsyl http://www.counsyl.com/
Preconception Genetic Screening by Virtus Diagnostics Preconception Genetic Screen https://www.virtusdiagnostics.com.au/specialist-genetic-testing/preconception-genetic-screening/
Reproductive Carrier Screening by Sonics Genetics https://www.sonicgenetics.com.au/rcs/
Gene Access Carrier Screen by Australian Clinical Labs https://www.clinicallabs.com.au/patient/our-tests/pregnancy-testing/gene-access-carrier-screen/
These tests are not done routinely by GPs yet and you will need to ask for them for it.
I’ll be honest, in some cases you may need to be assertive with your GP, insisting that you want the test and refer them to the VCGS website. I have many examples of people approaching GPs for this test and are persuaded not to do it if you have no family history. Please persevere. Again I mean not offence to any GPs but we have had this happen to almost every friend who have tried to get the testing. As I’ve said before, we did not have a family history either.
These tests are not currently covered by the Government. In a few years Mackenzie’s Mission pilot (if you don’t know what I am talking about here go to the page on my website called Mackenzie’s Mission) will finish and hopefully lead to a genetic test being available Australia wide for free for all who want it. In the meantime now we do have to pay but it is worth it.
We also need to raise awareness where we can because in the three years Mackenzie’s Mission takes to pilot approximately 600,000 babies will be born in Australia. Without us raising our voices and telling people about it those babies are exposed.
The American College of Gynecology and Obstetricians last year releases a paper to the Government recommending genetic testing be offered to all potential parents https://m.acog.org/About-ACOG/News-Room/News-Releases/2017/ACOG-Recommends-Offering-Additional-Carrier-Screening-to-All-Women-Regardless-of-Ethnicity?IsMobileSet=true
Australia has now followed suit:
The Royal Australian and New Zealand College of Obstetricians and Gynecologists have recently developed a standalone statement on carrier testing to provide medical professionals with more guidance.
“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.”
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 counselor is what the genetic disorder is, what the treatment options are and its severity. It may be a 'lesser' 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, it will be your own personal decision with whether you proceed with the pregnancy or not. This will be your decision and yours alone! No one can tell you what to do and it will depend on a number of circumstances including genetic disorder, treatment options, life expectancy, culture, religion, finances etc. A tough decision but better than no decision.
This test gives you information.
Change For Mackenzie
Since Mackenzie's diagnosis my family has taken our story to Federal Parliamentarians and to the media in order to bring routinely offered and free genetic testing for all prospective parents. We are honored and humbled to say that our campaign has been successful. In the 2018 Budget the then Treasurer (with a lead from Federal Health Minister Greg Hunt) announced a $500 million genomic project with Mackenzie’s Mission leading the projects being a $20 million genetic carrier testing pilot program.
For more information:
Whilst we know that routine genetic testing is a controversial topic. We also know from going through the pain of our loss as we now are, we truly believe that everyone deserves to know and carrier testing should be routinely offered to every couple as part of pregnancy planning. What you do with the information you are given is then, of course, your choice. No-one can tell you what to do and the decisions that you might make around this information are not clear cut, there are so many variables beginning with what disorders you carry. Carrier testing is about information. And then you can get more advice from the experts about your options.
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. We were told that we would have to watch our child die; that she would never reach her first birthday. We are not talking about genetic testing to pick eye colour, we are talking about, life shattering, often terminal,disorders.
If you find out both you and your partner carry the same disorder there are options. The only way for us to give Mackenzie siblings is for us to undertake IVF. The embryos created through IVF will have to be tested through Preimplantation Embryo Diagnosis (PGD) before they are implanted. It is an expensive process but one we are determined to do. We are also hoping PGD will eventually be subsidized by the Government for couples who are identified as being carriers of a recessive genetic disorder.
What you can do
Please, if you are planning children (or more children) go to your doctor and ask for a referral for a genetic test. Or even if you aren't planning to have children in the near future, next time you are visiting your doctor, ask them if they know about SMA or genetic carrier testing and,if they don't know, tell them about my baby girl Mackenzie.
Make Mackenzie's short life have purpose #changeformackenzie
Thank you for reading xx