IVF with PGD- When Dreams become Reality

Today’s blog comes courtesy of Louise (@louise_hutt88) who wanted to share her story in order to give hope to those undergoing IVF treatment whilst also raising awareness of BRCA alterations and other genetic conditions.

“IVF with PGD- When Dreams become Reality 

I found out I had a BRCA1 alteration back in 2009 when I was 21 years old. I was told by the genetics team at the time that when it came to having children, I would be able to opt for IVF with PGD. My mind was made up instantly.

Fast forward to 2016, I’d already had a preventative double mastectomy and had just got engaged to my now husband. We knew we both wanted children once we were married, and I was aware of how long the process could take so we looked to get the ball rolling with IVF right away.

Its not just about BRCA

Knowing that my husband and his family have Polycystic kidney disease (PKD) running through it, we asked the genetics team at Guys hospital if we could test for this in addition to my BRCA1 and they agreed.

As you don’t need genetic testing to diagnose PKD, his family had never been in touch with the genetics department and had never been informed that IVF with PGD was an option. I was stunned by the number of faulty genes and conditions that they would test for (over 600 at the time) and was saddened that there wasn’t more awareness of this option and left me wondering how many people were missing out.

The first step for us was for my husband’s family to go through the genetic testing process to identify their faulty gene. This took almost a year in total as their alteration was one that hadn’t been seen before. Several members helped us by giving blood for testing.

Ups and downs

Once married we joined the waiting list and started injections in the summer of 2018. After a certain amount of time, we had to go back for a growth scan to determine if my follicles had grown large enough for egg collection. I made the journey to London several times and each time I was sent away to do a few more days of injections and return. Eventually, after about two weeks they decided to abandon the round.My follicles had not reacted well to the drug given and only two were the desired size for egg collection. I was devastated and left wondering if I had fertility issues.

A few months later (which felt like a lifetime), we were able to try again with a different drug. It was such a nerve-wracking time but so worth it when we had the most amazing results. 15 eggs collected and 14 fertilized. 8 made it to day 5 and were frozen whilst genetic testing was carried out. A few weeks later we received a call to say that 5 of the 8 that were tested were clear of both genetic faults, a few being of excellent quality. They told me the good news over the phone but I didn’t really believe it until the letter came through and I could see it in black and white.

A lottery win

It was like winning the lottery as we’d been warned not to get our hopes up. Testing for two gene faults would drastically reduce our chances of getting a healthy embryo.

Our luck continued! Our first embryo was implanted on Valentine’s Day 2019 and our gorgeous son was born later that year in early November 2019.

After a tough birth, it took us a while before we felt ready to try for a second child. However, when our little boy turned three, we decided to go for it and once again contacted Guys Hospital.This time we were private patients and the total cost of trying for our second child was ‘only’ around £2500 as luckily, we still had our four remaining frozen embryos from our NHS cycle.

Once again, the doctors warned us not to get our hopes up and quoted general IVF statistics to us. The entire process really is a rollercoaster of emotions. In early 2023 we transferred our second frozen embryo and once again, it was successful at the first attempt.

Happy Anniversary

Our daughter’s due date was set as our wedding anniversary, another special date, which gave me hope that everything would be okay. She was born in late October, 8 days overdue. After my son’s traumatic hospital birth, I opted for a home birth this time (against medical advice due to it being an IVF pregnancy) and my experience was a positive one. She was delivered safely, in the comfort of our home.

I shared our story to give others going through this process some hope and to help raise awareness of not only ‘cancer’ genes but of other genetic disorders too.”