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I’m a known carrier of a high-risk genetic condition.
Since I can remember, I’ve known that I am a carrier of a rare genetic condition. I’ve understood the risks involved in pregnancy and leaned into the supportive healthcare systems around me.
In the late 1990s, my mother, who is also a carrier of Ornithine transcarbamylase (OTC) deficiency, was pregnant with me. During her pregnancy, she received confirmation that I was also a carrier of OTC, a rare x-linked genetic disorder connected to the urea cycle and metabolism. Concerns related to x-linked conditions pose greater risks to men (who have XY chromosomes) compared to biological women who have XX genes - meaning that if one gene isn’t functioning as expected, the other can make up for it.
The OTC gene variation passed down to me means I have an increased risk of complications during pregnancy or delivery and is fatal for all newborn boys.
I take tablets to help my urea cycle function and have semi-regular appointments at the metabolic clinic to ensure I am not at increased risk of high ammonia levels. As hard as it is, I understood my individual risks and was ok with it. However, things got a lot more serious when my partner and I began to discuss our futures. Things became a lot more real.
I remember early on in our relationship, my partner and I sat at a cafe after one of my metabolic appointments and the tears could not stop. The mental awareness of my unique situation was something I was prepared for, the emotional one, however, was and still is a struggle.
As my partner and I began to explore pregnancy, the genetic counsellor I was seeing suggested that I look into Eugene for a couple’s carrier screening. We did this test to learn if we were carriers of any other conditions that we should be aware of.
Eugene’s genetic counsellors provided me with personalised genetic education, guided pathways and support along pre-pregnancy and the pregnancy journey.
The sense of insecurity and inadequacy associated with fertility and pregnancy is unique to those of us who experience it directly. I remember before my results appointment, I was an emotional wreck; lot’s of “what if…? And feelings of my own reproductive inadequacy.
During our results appointment, our Eugene genetic counsellor held space for us to explore our feelings throughout this whole process, and created a safe space to ask all questions - no matter how silly we may feel they are!
The Eugene test empowered us as a couple with our individual reproductive carrier statuses, and now we are able to have honest and educated conversations about our future.
Something I love about Eugene is their ongoing support. I know that if I have further questions, or if new information comes out regarding my results, they will update me in a friendly, supportive and informative way.
Eugene provides an accessible and convenient healthcare experience for me. When I received my results from a genetic counsellor in a simplified and empathetic way, explaining all of my options, which then allowed me to make an informed decision about how to proceed. Eugene acts as a gene translator and then gives us the power to decide what’s next.
It's important to get clear on your options as a high-risk carrier.
I’ve recommended Eugene to countless friends and family - if you are feeling unsure about doing the Eugene test,a free consultation is the best way to learn more about carrier screening.
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Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder. It is a urea cycle disorder. One of many disorders that affect the urea cycle and metabolism. OTC specifically relates to protein intake.
The severity and age of onset of OTC deficiency vary from person to person, even within the same family. A severe form of the disorder affects some infants, typically males, shortly after birth (neonatal period). A milder form of the disorder affects some children later in infancy.
Some women who are carriers may not experience abnormally high levels of ammonia (hyperammonemia) until pregnancy or delivery.
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In the same way that you’ve got your mum’s eyes and your dad’s nose, we’ve been passing on genes from parent to child, forever.
However, family history is not a good predictor of whether a child has an increased risk of being born with a genetic condition. In fact, 90% of babies born with a genetic condition had no family history of it!
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Eugene’s carrier screen is an at-home DNA test that helps you identify if you have a higher chance of having a child with a serious genetic condition. The best time to do this test is when you are thinking about getting pregnant or within the first trimester.
Our comprehensive carrier screening tests for over 260 genetic conditions., including common conditions like Cystic Fibrosis, Spinal Muscular Atrophy, Thalassemia, and Tay-Sachs disease.
For the full list of genes, we check for click here.
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At Eugene we celebrate autonomy in healthcare. Our members can be self-referred or have a referral from a healthcare practitioner.
If you have been referred by a healthcare practitioner, there is a ‘referring doctor’ field that you can fill in to let us know that you’d like us to share your results with them.
If you are self-referred or have another practitioner that you’d like your results to be shared with, you are welcome to add their details there too.
You have full control and choice in your health at Eugene.
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Most couples find out that they do not carry the same genetic conditions as their partner.
About 1 in 40 people find out that they have an increased likelihood of having a child with a genetic condition. In this case, there would be a 25% chance that they could have a child affected by the condition. Having this knowledge before or early in pregnancy opens up your options.
For example, in pre-pregnancy, some couples may consider using donors or IVF technologies to conceive. If you are already pregnant, there may be the option of testing a pregnancy to see if the baby has inherited the associated genetic condition. Some couples may choose to not test before or during pregnancy, and instead use the knowledge of their carrier status to prepare for the birth of their child.
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