Sandy Nixon is the Brain Cancer Co-coordinator for Hunter New England Area Health District. On maternity leave at the moment, Sandy was born in Taree and currently resides in Port Macquarie with her husband, Mac, and beautiful baby boy, Hugh. The Nixons had quite an interesting journey to parenthood, however, and they’d like to share their story …
Hi Sandy. What’s your association with both the Manning and Port Macquarie areas?
I was born and bred in Taree. I grew up in Chatham and attended the Christian Community School.
My husband, Mac, my son, Hugh, and I currently reside in Port Macquarie, as Mac has been placed to work at the local hospital until August. We love living here! We will then move back to our home in Newcastle for the next couple of years.
When did you get married, and how long have you been planning to extend your family?
Mac and I got married in December 2015. We were incredibly excited to start a family right away.
Once you decided to try for a baby, what did you discover?
I made an appointment to see my GP in February 2016, to ensure all was OK to start trying for a baby. My GP mentioned having a Cystic Fibrosis (CF) screening done, which was a simple blood test (or saliva test). I wasn’t familiar with CF screening and wondered why we should have such testing, as my husband and I had no prior family history of CF. The GP told me that CF was the most common genetic disorder (one in 25 people are carriers); however to have a baby affected by CF, both partners need to be carriers. After having the blood test, I completely forgot about it – and we even tried to fall pregnant naturally in February.
In March I received a phone call from my GP to inform me I was a carrier for the most common CF gene, Delta F508; though again, Mac had to be a carrier also for this to be a problem.
Mac went ahead and had the blood test too. A week later, he called and informed me he too is a carrier of a rare and severe CF gene. This means we have a 25% chance of having a child with severe CF each pregnancy. I was in absolute shock!
Where did you and Mac go from here – you must have had some tough decisions to make?
For days I was quite upset, as I needed to know so much more than I knew, and I realised having a healthy baby was going to be more difficult than we first thought. As I crumbled, my incredible husband took the reins completely. Within a few hours he had a referral from my GP to the genetic counsellor, with an appointment the following day and a referral to an IVF specialist to discuss options, with an appointment later that week.
As we both work in the medical field, we knew the seriousness of being diagnosed with severe CF. We spoke with the genetic counsellor, who confirmed all the information we’d already gathered. One option was to fall pregnant naturally and have the foetus tested at 12 – 16 weeks and make decisions from there. Thankfully, Mac and I were both on the same page and agreed that if tests came back positive for CF, we would not in any circumstances terminate the pregnancy and would love and care for our beautiful baby no matter what (but we say this with no judgement AT ALL to those who choose the alternative).
This is why we chose to go down the second path. We met with an IVF specialist, and she informed us of the process of IVF using Preimplantation Genetic Diagnosis (PGD) testing. Basically, this means testing the fertilised embryos for CF, along with a range of other conditions, with 95% accuracy, and therefore implanting an unaffected, healthy embryo.
Despite improvements with treatments for CF, the life of a child and adult with severe CF can be life limiting and heartbreaking at times (please don’t get me wrong; we understand there are thousands of people living with CF who live long, healthy lives, and there is a wide range of severities). Hence, we made the decision to avoid falling pregnant naturally, in order to eliminate having to make life changing decisions.
What was involved with your IVF procedure?
Our parents had to be tested (both our fathers were the carriers; this was new information to both of them). We had to have multiple genetic counsellor consultations, multiple education sessions; I had countless blood tests, ultrasounds, self-administered injections (38 injections in 10 days), an egg collection procedure and embryo implantation.
All my husband had to do is “you know what”, and hand it over the front counter in a brown paper bag (just kidding; he was my absolute rock throughout). We had 12 eggs collected, of which three survived to be tested for CF. After the testing was complete, we had one beautiful, healthy embryo, who was only a carrier for CF.
We had the embryo implanted and as I didn’t have any fertility issues, there was a 90% chance of it fertilising. We had a scan at 8, 10 and 12 weeks, and it was the most beautiful little “peanut” I had ever seen.
To us, he/she was absolute perfection. The process since seeing my GP for the first time to falling pregnant was 12 months. After seeing that first scan, it was one of the most surreal, amazing and scariest moments of our lives. I was so worried that something would go wrong. But thankfully, that never happened.
When was Hugh born?
12th October 2017. And my goodness – he is perfection. All of those appointments, tests, procedures and tears were more than worth it. I would do it a million times over
Why have you chosen to share your story?
All we want to do is raise awareness that CF is the most common genetic disorder and that there is testing available to those who would like to be fully informed PRIOR to falling pregnant. Since going through this journey, we’ve had family members and friends appreciate the information, who have been tested themselves.
My husband and I also truly understand that even if couples do get tested, that doesn’t mean their options may be as open as ours were; we are extremely fortunate enough to have the means possible to go down the IVF route.
We felt a moral obligation to tell our story – to do “our part” to ensure everyone is at least aware that they have the option of pre-pregnancy testing if they choose to do so. I couldn’t forgive myself if a friend or family member said, “I wish someone had told me”.