22 - Meet our PGD Christmas miracle 🍼

I'm back! It's been a year since my last blog post, and what a year it has been. For the first time, I only have positive things to share (my first ever happy blog?). As I write this, I have a baby boy cuddled up with me in his sling, enjoying some sleepy snuggles with his mum.

I’ve been so excited to write this blog. It’s nice to finally share some good news, and even better, our baby boy was conceived through PGD (Pre-Implantation Genetic Diagnosis, which you can read about in Blog 17), meaning he hasn’t inherited the C9ORF72 genetic mutation. The process was lengthy and filled with uncertainty at every step, with so much that could have gone wrong along the way. I feel so lucky that it worked for us, and I hope our journey offers a sense of possibility to others in a similar situation. This marks the end of familial FTD in my direct family line, and honestly, I feel like such a badass knowing my husband and I made this a reality.

I know people who are considering PGD read my blog, so I want to be as transparent as possible by sharing the timeframe and steps involved in my journey, along with the associated risks.

September 2019

Referral sent for me to be tested for the C9ORF72 genetic mutation

February 2021

Received a positive test result; referral made to the regional genetics service to begin the PGD process.

February 2021 - October 2023

Attended numerous online meetings to discuss the PGD process.

October 2023

Underwent initial PGD tests, including a scan, bloodwork, and a consultation.

November 2023

Started IVF medication.

December 2023

Egg collection, fertilisation, and embryo genetic testing completed.

January 2024

Received results from the embryo genetic testing.

March 2024

Embryo transfer took place.

April 2024

Positive pregnancy test confirmed.

December 2024

Welcomed our baby boy!

I always knew the PGD process would be lengthy. I even wrote in Blog 17 (Feb. 2021) ‘PGD takes a very long time, and it could be around 3-4 years before we even have a baby – and that’s assuming everything works perfectly.’ At the time, I thought quoting 3-4 years sounded like the worst-case scenario. I never truly believed it would take that long! As it turns out, from the date the referral was sent for PGD to welcoming our baby boy, it was 3 years and 10 months. It’s the first time I’ve calculated it, and I’m shooketh to my core at how accurate my prediction was. I’m also incredibly proud of both myself and Gregg for demonstrating patience I never knew we had!

The nitty gritty numbers of our PGD journey

Eggs collected - 18

We were told the 'optimal' number of eggs to collect for the best chance of success was between eight and twelve. We were thrilled (and a little shocked) by the number of eggs collected, though the quality wasn’t assessed at this stage.

Eggs eligible for ICSI fertilisation - 16

Two of my eggs were an unusual shape and couldn’t be used, but we were feeling positive that sixteen were eligible for fertilisation.

Eggs fertilised - 16

We were very lucky that 100% of my eggs fertilised. Prior testing confirmed that Gregg had super sperm, even at 45!

Embryos that developed successfully to day six (reaching the size required for genetic testing - known as a blastocyst) - 5

This felt like a large drop, and despite being prepared for it, it was a stark reminder of our reduced chances of success. Eleven embryos didn’t survive to day six, which was expected since they weren’t in an environment designed for growth. Their survival was always uncertain without being in utero or frozen for preservation.

Embryos that tested positive for the C9ORF72 genetic mutation - 4

This was a huge shock, and I felt completely thrown. I lost all sense of logic, despite knowing the chances of passing on the genetic mutation were 50/50, I couldn’t shake the feeling of being ‘infected’ when I learned that 80% of my eligible eggs carried the mutation. It makes me sad thinking about how it made me feel. We were left with just one embryo available for transfer. We reminded ourselves that it only takes one, but we couldn’t help feeling discouraged and prepared ourselves for the possibility of failure.

Embryos transferred - 1

We knew that transferring an embryo doesn’t always result in a pregnancy. The embryo may not attach to the uterine lining, or in rare cases, it could implant outside the uterus. At this stage, the embryo was also graded, and we were told ours was 'poor.' I found this part complex, as it involved factors like fragmentation, symmetry, and other aspects that affect the embryo’s cells. With only one low-grade embryo available for transfer, our expectations were low, but we remained hopeful.

Healthy pregnancies - 1

Receiving a positive test result felt nothing short of a miracle, and it was an incredibly emotional and special morning. Of course, there were still risks ahead. All pregnancies carry risks such as miscarriage, gestational diabetes, hypertension, pre-term birth etc. IVF pregnancies are no exception.

I hope the information above gives some insight into the uncertainty of this process. While I’ve focused on the numbers, there were many other hurdles we had to overcome; how my body responded to the medication, how 'hospitable' my womb was, the freezing and thawing of embryos, and more. I don’t want to sound negative, but it’s important not to portray this journey as easy or guaranteed. Our expectations were managed throughout, and I hope anyone considering this process receives the same level of honesty and preparation.

Enough of the disclaimers though, this IS a success story. Despite the statistics, challenges, hurdles, poorly graded embryos, and 80% of my eligible eggs carrying the C9ORF72 genetic mutation, our 1 embryo is no longer 'just an embryo.' He’s our son, and we know he doesn’t carry the C9ORF72 genetic mutation. Every time I attended a scan and saw the structure of his head, I couldn’t help but beam at his healthy little brain. The nurses thought I was mad without context, but once I explained, they understood just how profoundly special those moments were to me.

I've been asked if having a baby has brought back sadness about Mum not being here to meet him. Honestly, I’m not sad. I know without a doubt she would have been smitten with him, and of course, it would have been amazing to see. But I would have only wanted that if Mum was healthy - and if she were healthy, there’d be no FTD, no genetic mutation, no detection of it, and no PGD. Without PGD, I wouldn’t have this exact version of our baby boy at this exact moment, and that’s unimaginable. (On that note, if you haven’t watched Sliding Doors, you really should!)

In a way, Mum has already played a huge part in our journey, and that makes me... happy? Without her and her reality, there is no him, and that connection makes me feel close to her. It’s not how I expected to feel, but I’m grateful for my outlook.

Everyone, meet baby Jax Crawford 🩵