To do list: Genetic Testing
When Jonny 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 – unicorn man);
- saw a Chinese herbalist/acupuncture specialist to help balance my hormones and Jonny to have Super sperm;
- had the usual pre-pregnancy blood test which looked at our iron levels, STIs, vaccination immunities etc;
- had pap smears;
- went to the dentist;
- took pre-pregnancy vitamins;
- had all our scans and screenings; AND
- what we thought was 'genetic testing'.
The genetic testing we had was called Genesyte (this is the Australian version of the 'Harmony' test) http://www.genea.com.au/downloads/genesyte-patient-information-booklet-jan2015.aspx/
This test looks for chromosome abnormalities such as Down Syndrome. It can be done when you are around 10 weeks pregnant through a simple blood test. It can also reveal the baby’s gender. It has started to gain popularity in Australia and is beginning to be recommended by doctors. It is not a routine test but we thought we would be safe and do it anyway. It costs around $400 from memory and for us it came back clear. We felt safe and reassured.
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 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. 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 amongst healthcare professionals (in our experience).
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. Currently doctors only know to refer patients to genetic counsellors when 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).
No one took the time to explain this 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 Recessive Genetic Disorders
Everyone is made up of unique genes. The genes are the building blocks that make each of us who we are. Every person carries genes with mistakes. These mistakes can sometimes lead to genetic disorders. Recessive genetic disorders can be passed onto someone by their parents if both parents are carriers of the mutation, although some can develop as random mutations and some only need one to be a carrier. If you are a carrier you may not have any signs of the disease you carry.
Most people carry a range of genetic disorders they don’t know about, and without testing, may never know about. In fact on average most people carry approximately three lethal recessive genetic disorders. If a man and a woman have sex and create a child and both carry the same genetic disorder there is a one in four chance that the child will not be affected, two in four chance of the child being a carrier themselves and a one in four chance of the child being affected. Like Mackenzie was with Spinal Muscular Atrophy (SMA).
You would probably never have heard of most genetic disorders like Spinal Muscular Atrophy but you may have heard of some such as cystic fibrosis.
You can find out if you are a carrier of a recessive genetic disorder through a genetic test (the test is on you not on your baby) which is a simple blood or saliva test. It is best to get done before you get pregnant. Then it is easier to make decisions if you come up as 'at risk'. Although it can also be done in early pregnancy, which 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. But I'll outline two of the tests below that I know about:
Test name: Foresight (formerly Family Prep)
From my understanding this test is one of the most thorough tests in the world. We have now done this test. It costs $629 per person and tests for 175 recessive genetic disorders. You can have both parents tested or to make it cheaper just the female can be tested (given some disorders like Fragile X are only passed on from the mother). The results can dictate whether carrier testing on the man is necessary. The company is based in America but there are genetic counsellors based in Australia who organise the test, explain your results and give you genetic counselling if needed. To do this test you need to get a referral from your GP to one of the Counsyl Genetic Counsellors in Australia.
Victorian Clinical Genetic Services (VCGS)
This test is $385 and tests for the ‘top’ three devastating genetic conditions being SMA, Cystic Fibrosis and Fragile X. As with the Foresight Test, to make testing cheaper you can start with just the woman being tested as Fragile X is only passed on by the biological mother, if she is a carrier. 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 and ask them to write you a referral, email the referral to VCGS and they will actually send you a saliva kit in the mail.
These tests are not done routinely by GPs yet and you will need to ask for them. In some cases you may need to be assertive with your GP, insist that you want the test and refer them to the Counsyl of VCGS website, especially if they try to persuade you that the testing is only needed if you have family history or if they have not heard of it. 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.
The American College of Gynecology and Obstetricians last year releases a paper to the Government recommending it for 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
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 is currently taking our story to Federal Parliamentarians and to the media. We want to raise awareness of genetic disorders such as SMA and also awareness that genetic testing exists in Australia and is accessible now!
We want GPs to start being taught more about SMA and to make referrals to genetic testing common practice. It is wrong, in my opinion, that it is only done now if there is a family history.
We are trying to push for Federal politicians to agree to make carrier testing a routine test (like it is for Down Syndrome). Of course, there is still the issue of it being affordable and we would like to see the cost being covered or at least subsidised, so there is equitable access for all.
Countries such as Israel have done carrier testing routinely for years! Genetic disorders like SMA have been mostly eradicated from their population. Australia is a wealthy country, we have the technology (research is not needed) – let’s get this done!
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