'If there's one thing I wish I'd known in my 20s it's this: Take the blood test.'

Warning: This post deals with infant loss and may be triggering for some readers. 

“The one thing I’d tell myself in my twenties…” I have seen articles like this many times before, scattered through magazines. Usually the writer expresses the wish that they had been more body confident in their twenties because this was a time when they were the fittest they would ever be. Or it’s an article about being happy with yourself and more self-confident.

Mine is so simple. What I wish I had known in my twenties (or more importantly, what I wish I had done), could have been achieved in five minutes.

I wish I’d had a blood test.

More specifically I wish I’d had a test called reproductive genetic carrier screening so that when I was ready to have a family, I would have had all the information I needed to have a healthy child.

When I was in my twenties the biggest complication to getting pregnant in my eyes was finding the right guy. Never for one second did I think about the health of my future babies. It was just a given, I would have healthy babies, of course. But by my mid thirties, suddenly all of my high school biology came flooding back to me when I found out about the impact genetics can have on your family. It can happen to anyone.

On March 11, 2017, my husband and I had our first baby, a beautiful girl called Mackenzie. She was perfection. But at 10 weeks of age our life came crashing down around us when Mackenzie was diagnosed with a genetic condition called Spinal Muscular Atrophy (SMA). It was terminal, we were told, and we were given a matter of months left with her.

One day we had a healthy baby and the next day we were told she would die.

I cannot describe the pain we felt. I do not feel that there are adequate words in the English language to describe that pain for others. We gave our daughter the best life we could in such a short time, and, in a matter of months, our beautiful Mackenzie passed away in our arms at 7 months and 11 days old.

Watch: A tribute to the babies we’ve lost. Post continues below. 

In our research, trying to understand how this had happened to us, we learnt what they don’t teach you in schools, or probably even teach most medical professionals at university – and that is, we all carry on average three to five genetic conditions in our DNA that we can pass on to our children. Every single one of us.

Here’s a quick genetics lesson. I promise it will be worth it.

When we are conceived each of us gets 23 chromosomes from their Mum and 23 chromosomes from their Dad. Think of these chromosomes as old-school encyclopedias. In order to have a whole set we each need 46 chromosome ‘books’ from our parents. Sometimes we have too many or too few chromosomes which is what leads to chromosome conditions such as Down Syndrome.

A baby’s chromosomes can be tested when a woman is pregnant through an ultrasound called nuchal translucency or the relatively new non-invasive prenatal test (NIPT).

Inside those chromosomes we have genes. Imagine opening up those encyclopedias. All the writing inside is the genes. Once again half of those genes come from Mum and the other half from Dad. Sometimes we get a faulty gene from one parent but the matching one from the other parent is healthy so it can take over the work of the faulty gene. This means that the child will not be affected by the related genetic condition.

But, if you get the same faulty gene from both parents, the child will be affected with the related genetic condition because there isn’t a ‘normal’ gene to do the work. The genetic condition will depend on what gene is involved.

This is what happened to us. Without knowing, both my husband and I carried the same faulty gene for SMA. However, we had a healthy gene to do the work meaning we only carried the genetic condition. But our daughter Mackenzie inherited both copies of that faulty gene.

 

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You were all my heart needed xx #mackenziesmission #mylove #mychild #mybaby #myworld #myneed #mywant #myall #myheart #mytears

A post shared by Rachael Casella (@mylifeof_love) on Nov 16, 2019 at 11:09pm PST

Think that doesn’t happen often? That’s what we thought too. Whilst each individual genetic condition is normally considered rare, because there are thousands of genetic conditions, when the incidence of all these are added together, they are not rare. In fact, according to the Jeans for Genes website, 1 in 20 babies are born with a genetic condition or birth defect.

I’m not trying to scare you, in fact what I want is to give you a piece of information that I wish we had known because such a simple test can have such a huge impact. What I’m hoping is that this bit of information will help others. There is a test, a simple mouth swab or blood test, that can tell you what, if any, genetic conditions you may carry AND if together you and your partner may have a risk of passing a condition onto your children.

We did every test we were offered in order to have a healthy pregnancy including the tests that checked Mackenzie’s chromosomes. We were offered this test because NOW these are tested routinely, but we didn’t know about the genetics test because it isn’t routinely offered. At least, not now…

Mia Freedman speaks to author Rachael on the No Filter podcast. Post continues below. 

Since Mackenzie’s diagnosis our family has been campaigning for change. With the help of the Federal Health Department and some amazing medical professionals there is a change coming in the form of our daughter’s legacy, Mackenzie’s Mission.

Previously, genetic carrier screening was only to be offered to people with a family history, but as four out of five babies born with a genetic condition have no family history this seems to be a flawed practice. New guidelines in Australia now recommend ‘screening for common genetic disorders be offered to all women prior to pregnancy’.

Whilst change is coming, still not all medical professionals know about the test and most do not offer it routinely as yet. In most cases you need to know about the test and ask your doctor for it either when planning for a baby or in the first trimester of pregnancy.

 

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Hot off the press! Just sent to us by our publishers. We can’t believe it. We are speechless. We just sat on the couch turning those beautiful pages. Our baby has a book. Her story is told. That is the greatest gift anyone could give us, to witness her life. I beg anyone who feels scared to read our book, please don’t be. The feedback I have had is that people walk away feeling hopeful and full of love. We are not just a sad story. The pre-order for the book is out. You can click on the link in my bio, visit @booktopiabooks @bookdepository @amazonkindle @kobobooks @applebooks @google_playbooks or just search for ‘Mackenzie’s Mission’ online. We are so happy with how it looks! Honoured. Thank you @allenandunwin xx #mackenziesmission #readourbookplease #herstory #speechless #ivf #genetics #genetictesting #ivfjourney #childloss #grief

A post shared by Rachael Casella (@mylifeof_love) on May 2, 2020 at 12:57am PDT

We didn’t know what to ask for and our daughter was born with a terminal illness.

But now you do know and, if you choose, you can ask for that test. That is what I wished I had known when I was in my twenties.

If this has raised any issues for you or if you would like to speak with someone, please contact the Sands Australia 24 hour support line on 1300 072 637. 

You can download Never Forgotten: Stories of love, loss and healing after miscarriage, stillbirth, and neonatal death for free here.

Join the community of women, men and families who have lost a child in our private Facebook group.

Mackenzie’s Mission by Rachael Casella, Allen and Unwin, RRP: $29.99, is available now. For more from Rachel, visit her blog or follow her on Instagram @mylifeof_love 

Feature Image: Supplied/Instagram @mylifeof_love