Gaining Perspective Through Huntington's Disease And IVF
By Ellen Guli
Our fertility journey began in 2015, not long after we were married. Soon after that, in April of 2016, our lives were instantly shattered.
Unfortunately, we found out that I needed to be tested for Huntington’s Disease (HD), a terminal neurological genetic disease passed down through generations. It took nine months to officially diagnose me with HD, and my only thought when I got my official diagnosis was that I wasn’t going to be able to grow old with the one person I loved.
Having Huntington’s Disease meant that I had a 50% chance of passing it onto my children, which meant that in-vitro fertilization (IVF) & preimplantation genetic diagnosis (PGD) was going to have to be our path to parenthood.
My husband and I did our first round of IVF in April of 2017. I responded well to the protocol and 17 eggs were retrieved, 14 of which fertilized. At that moment, we both naively believed we would be pregnant with twins from our first round of IVF. However, by Day 6 we got the call that only two embryos had grown to blastocyst stage and were sent for PGD testing. All of the hope we did have was crushed when we were told that both embryos were abnormal. One had HD, and the second had other chromosomal abnormalities.
Our doctor informed us at our follow-up appointment that unfortunately on top of my Huntington’s Disease, I also had a Balanced Translocation (of chromosomes 8 & 12) as if HD wasn’t a big enough burden.
In June of 2017, we began our second round of IVF. Again, I responded well to the protocol, and our doctor retrieved 24 eggs. 16 fertilized, and we felt hopeful. However, by Day 6 we got the call, and zero embryos had made it to blastocyst. We were broken, confused, and right back to square one. But in our hearts, we knew we had to keep going.
Two months later, we started our third round of IVF. This time, our doctor switched my protocol. Once again, I responded well, and he retrieved 18 eggs, 15 of which fertilized. However, once again by Day 6, we got the call that only one embryo had grown to blastocyst and was sent for PGD testing. Any inch of hope we had been hanging onto was again shattered when were we told that our one and the only embryo had HD.
We embarked on our fourth round of IVF in October of 2017. 18 eggs were retrieved, and 17 fertilized. Once again, by Day 6 we got the call letting us know that only one embryo had made it to blastocyst and sent for PGD testing. At this point, we had little to no faith in this embryo, no faith in the process. But against all odds, this one embryo came back healthy. FINALLY!
On the day of our frozen embryo transfer, our embryo thawed perfectly, and just like that, I was in my two-week wait. I googled everything and swore that I was having every pregnancy symptom. But just like that, my beta pregnancy test came back negative. Our transfer had failed, and we were brought right back to where we had started this journey 12 months ago. We were broken.
We knew something wasn’t working, and more importantly, that our plan had to change. This meant a lot of conversations, research, and pros and cons lists. To our surprise, we found a new clinic (that was perfect for us) in a completely different country.
In April of 2018, we traveled overseas to our new clinic for our fifth round of IVF. This time, our doctor retrieved 20 eggs and 16 fertilized. It was a long wait in an unfamiliar environment, and a lengthy, scary process, but we held onto all of the hope that we had left. The next thing we knew, we were told that we had nine healthy embryos. NINE.
Soon after that, we geared up for our frozen embryo transfer cycle. We transferred two embryos and prayed that one would stick, and one did! My beta levels rose beautifully, and at seven weeks we got to see our baby’s heartbeat for the first time. We were in love. But our hearts broke once again. At our 10-week scan, we were told, “I’m sorry, there is no heartbeat.” Our world crumbled. I had failed us; I lost our baby.
For our next transfer cycle, we were more emotional than ever, knowing how close we had gotten last time and how easily it had been taken away. We prayed again that at least one would stick, and he did. Our rainbow baby, Ollie.
Pregnancy after loss was hard. It took away all of the excitement I should have felt and left me with a horrible feeling of anxiety. We took each day as it came and prayed that our baby would stay. To our astonishment, he did.
September of 2020 was supposed to be our fourth frozen embryo transfer cycle. We planned the dates, looked at flights, and predicted due dates. We were ready. Then COVID-19 happened. Our lives stopped. Our plans came to a halt, and any hope of our fourth FET cycle was crushed.
Keeping our country safe has meant a cease-all on international travel for any ‘elective’ medical procedure. Elective. How has that word become so powerful? Now we wait. I have read that this could last one to two years, but I’m holding my faith close to my heart in the hope that we will be able to resume treatments before then.
Right now I feel stuck, but in times like this where I find myself doubting how far I can go, or how long I can wait, I try to remember how far I have come already and the lessons I have learned along the way:
The power of hope.
I have no doubt whatsoever just how close I came to giving up. Hope is what kept me going. Hope, to me, was that voice telling me “you’re going to be a mom.”
The definition of gratitude.
I have always been a grateful person. Even when I was diagnosed with HD, I still felt grateful to be able to appreciate ‘time.’ However, it took longing for something for so long to gain a true understanding of what unconditional love and gratitude really is.
The ‘waiting’ serves a purpose.
These words once hurt. It took me getting through the darkness to finally comprehend and believe it was beneficial. Now looking back, I’m thankful for the ‘waiting’ and the ‘longing.’ I wouldn’t be me, love as hard, or appreciate where I am in life without all of the darkness I’ve been through.
The hard things give you perspective.
Being diagnosed with HD led me on my infertility journey. Being diagnosed was hard, and still is today. However, I have been able to gain perspective on what’s important in life. It gave me an understanding of the reason for my existence, my blueprint, which was to be a mom. And how could I have given up on that?
Elle (short for Ellen) Guli lives in a little old country town in Queensland, Australia. She and her husband Nate started dating when she was 17 and have been together for 13 years. They got married in 2015 and have been trying to conceive since then. Ellen has Huntington's Disease but doesn’t want anyone to feel sorry for her. She also has a Balanced Translocation. Both of these combined means she had her husband have roughly a 16% chance of having a healthy baby. Once you add in IVF success rates, it brings them down to about 6%. However, regardless of all of the darkness, what they do have is their rainbow baby boy, Ollie. He was born in June 2019 and is the reason Ellen keeps going. You can follow Elle on Instagram at @blueprintwarrior.
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