Elle: Blueprint Warrior, IVF and Huntington’s Disease

My husband and I have been together since I was seventeen. 2007 to be exact & we finally got married in 2015. This is when our TTC journey began, not long after the wedding. By December 2015, I was off the pill & that’s when we started longing for our baby.

Elle: Blueprint Warrior, IVF and Huntington’s Disease

When & Why We Started…

However, our lives took a turn for the worst by April 2016, when we found out through distant family that I needed to be tested for Huntington’s Disease. Huntington’s Disease is unfortunately a terminal neurological genetic disease that onsets in either the third, fourth or fifth decade of their life. It has a 50% chance of being passed on to biological children.

So, there was a 1 in 8 chance of me carrying this gene mutation & unfortunately after nine months of testing (without being able to ‘try’) I officially tested positive in December 2016. At first, we were shocked as we really believed the odds were in my favor. And then heartbroken. My only thought was that I wouldn’t be able to grow old with the person who I loved the most.

Fast forward to January 2017, & it was the start of our IVF journey. No IUIs, no medicated or timed cycles. Straight into IVF with preimplantation-genetic diagnosis (PGD). Our specialist ensured us that by going through IVF, they could perform PGD which would determine what embryos carried my genetic disease and which ones didn't as there was absolutely zero chance that I could ever pass this on. This enabled us to only transfer back any of the healthy embryos.

The Long Road to Our Rainbow…

Prior to starting IVF, we had to perform karyotyping which simply was the process of pairing and ordering all my chromosomes (because they needed to have a full understanding of my make-up) to conduct PGD testing (this took forever). So, by April 2017, we started our first IVF cycle. I responded well to the hormones & my Gynaecologist was able to retrieve 17 eggs. We were ecstatic & felt even more relieved when we got the call that 14 had fertilised. This was the 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 & only two embryos had made it to Blastocyst stage & were PGD tested. We were gob smacked but held onto hope.

It took two very long weeks for the PGD testing to be done. We got the call, and unfortunately both embryos came back unhealthy. One had my Huntington's gene mutation but the second had "other" chromosome abnormalities. We were shattered & confused. This was the moment our Gynecologist decided to actually ‘read’ my karyotyping report (ridiculous right?) & then informed us that on top of my Huntington’s gene mutation I also had a Balanced Translocation (8 & 12 to be exact).

To put it simply, translocations can be 'balanced' when there is an even exchange of material with no genetic information extra or missing, (with full functionality), or 'unbalanced' when the exchange of chromosome material is unequal resulting in extra or missing genes (no functionality or no life).

I’m an Accountant, so I analyze everything. By calculating my Huntington’s Disease (50%) & my Balanced Translocation (33.33%) I know I only had a 16.66% chance of having a HEALTHY baby. Now add into the mix of IVF success rates, it drops down to around 6%. Yep, 6% chance for us having a healthy baby via IVF. I was lost, broken & confused.

We decided to not wait & in June 2017 we started our second round of IVF. Again, I responded well to my stimulations & our Gynaecologist was able to retrieve 24 eggs (amazing). We got the call the following day to say that 16 had fertilised. We were hopeful with this number & felt content with the outcome. However, by Day 6, we got the call to say that zero embryos had made it to Blastocyst stage. We could not believe this; we did everything right.

Of course, as an infertility warrior, we decided to go straight into our third round of IVF in August 2017. This round our Gynaecologist changed up our protocol, switching from Gonal F to Menopur. I responded well to this new method & he was able to retrieve 18 eggs. We were slightly more hopeful that the new method might work for us so we were happy to hear that 15 eggs had fertilised. But, this didn’t last long & by Day 6 we got the call that only one embryo had made it to Blastocyst stage & was PGD tested. We held onto all the hope & faith we had that our one little embryo would be healthy. However, unfortunately our little embryo came back with my Huntington’s gene mutation. Our hearts were broken.

At this point we were confused more than anything. After long conversations, tears & heartache we came to the decision that we would try one more round & if we didn’t get the result we were hoping for then we would take a step back & reassess our plan.

So October 2017 came around & we started our fourth round of IVF. I responded well to the protocol & our Gynaecologist was able to retrieve 18 eggs. We were very happy to hear that 17 of those eggs had fertilised (our most successful rate yet). Again we held onto our faith, however once again by Day 6 we got the call to say that only one embryo had made it to Blastocyst stage & was PGD tested. Again, we found ourselves in the situation we hadn’t hoped to be in, so all our hope was diminishing very quickly. So when we got the call a few weeks later saying that our little embryo was in fact healthy, we honestly could not believe it.

We took the Christmas break off & scheduled our first FET cycle for January 2018. Our Gynecologist practiced natural transfer cycles, so we put our trust in his hands & hoped that my body would know exactly what to do. Our embryo defrosted perfectly & just like that I was in my two week wait. It was horrible. I’m a very anxious person so I googled everything (& I mean everything). I didn’t POA until the day before my Beta test. Unfortunately, my Beta came back negative. No baby. No frozen embryos. No hope & nearly 12 months of our time gone for what felt like absolutely nothing.

This was it. We knew something wasn’t working. We made the decision to try something new. A new chapter, a new plan & a new light to guide us on our infertility journey. We took the next few months to research other IVF clinics; their success rates, their procedures, their technology and resources. We needed to be able to trust the process and the future lives of our little embryos. And to our surprise, we found a clinic which catered for ALL of our needs outside of Australia (over 10,000 kilometres away).

So, come April 2018 we entered into our fifth round of IVF. This was a very different process however it went so smoothly. I saw my local GP for scripts, blood tests & referrals for the hospital for scans & then our new Gynaecologist took over once we arrived at our new clinic. Everything went really well & she was able to retrieve 20 eggs, and 16 of those fertilised.

It was a long wait & of course we tried not to get emotionally attached as we had been in this positive four times before (with painful end results). It was a long wait, but we remained hopefully yet cautious & could not believe it when we finally got the call to say that we had nine healthy embryos. We had never been here before. This was new. This was absolutely amazing.

We scheduled our second FET for May 2018 & transferred two of our highest graded embryos. My lining was perfect & we entered the TWW with hope. Our commute home was long (14hrs), yet we were so happy that we found our new clinic & Gynaecologist. I started bleeding on 9dp5dt & my heart sank into my stomach, not again. My Beta test was the following day, yet we had no faith in this cycle as I was still bleeding. So we were utterly surprised that my Beta came back positive & continued to grow perfectly. We had our first scan at 7 weeks & saw our babies heartbeat (just one embryo had stuck). We were in love.

Our next scan was scheduled for 10 weeks (with our Obstetrician). It was our first appointment with her as we graduated from the fertility clinic. We were both so excited to meet her & even more excited to see our baby again. She asked lots of questions & got me up on her bed to do her scan. The next thing we knew she said, “I’m so sorry, there is no heartbeat”.

Just like that our world crumbled. I had lost our baby. Unfortunately, my body didn’t ‘do its thing’ & I had to be scheduled for a D & C to remove our baby. I felt so angry & robbed of our little miracle. I needed time to heal. At this point I started acupuncture, it quickly became my go to for anything that flared my emotions. It grounded me & additionally, gave me hope for a third FET cycle.

So by October 2018, we booked our flights & headed back to our clinic overseas for our third FET cycle. I was more emotional than ever, knowing how close we got last time & how easy it was taken away from us. But as always, we held onto hope. My lining was perfect & we transferred two of our highest graded embryos.

We flew back & I spent the TWW between overanalysing everything & acupuncture. We were so nervous but as always held onto hope. The morning of our Beta arrived & it came back positive. Again. How could we be so lucky? What will go wrong this time?

Pregnancy after loss is hard. Period. Unfortunately, it takes away any excitement & just leaves a horrible feeling of anxiety. We took each day as it came & just prayed that this baby would stay. And he did. He was born in June 2019, our rainbow.

What I Have Learned…

Our journey has been so hard, & hand on heart we have learnt so much along the way. It’s funny how you surprise yourself & looking back into our darkest moments, I can see that we always managed to find tiny slithers of light.

Firstly, the power of hope. I’ve no doubt whatsoever just how close I came to giving up. So close. Hope is what kept me going. Hope, to me, was that voice telling me “you’re going to be a Mum”.

Secondly, the definition of gratitude. I was always 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 & gratitude really is.

Thirdly, that the ‘waiting’ serves a purpose. These words once hurt. It took me to get through my darkness to finally comprehend & 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 my life without all of the dark.

And lastly, I was given perspective. Being diagnosed with HD led me on my infertility journey. Being diagnosed was hard (and still is today). However, I’ve 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 Mum. And how could I have given up on that?

What I Wish I Had Known (Advice For My Pre-Infertility Self)…

1. Not to take time for granted & just take one day at a time. Time will pass anyway, so please don’t get so consumed with the ‘perfect life’ you so desperately desired & miss the tiny moments of happiness found in every day.

2. Appreciate the little wins, even when they seem insignificant in the moment. Because for every win, there will be at least five knock-backs where you will feel heartbroken & confused.

3. Have faith & trust in your journey. Even in the moments where you find yourself lost & unsure, because holding on to faith means you will always have hope. How can you give up when you're holding onto hope?

4. This isn’t your fault. Period.

5. You’ve got this. You’ll surprise yourself with the amount of courage you find within your own heart when it comes to one day holding a baby in your arms.

My Challenges…

Of course, our biggest challenge when we started trying for a baby was being diagnosed with Huntington’s Disease. Unfortunately, it’s a terminal disease which could onset at any point in time in my life from now on (as I’m already in my third decade). I’ve had to accept this & my ‘fate’. Can you imagine how it feels to know your destiny, to know your ‘plan’? It’s so incredibly hard. I couldn’t eat or sleep for months. I had to see a psychologist for over a year to learn how to channel my thoughts. Then I spent the next few years pulling a blind eye over my diagnosis, not thinking about it & not talking about it meant it wasn’t real right? It wasn’t until I started Blueprint Warrior that I began to really open up about it with not just a community of strangers but also my family too. Talking about it meant I was able to finally accept it.

Add on top of my Huntington’s Disease, another challenge we stumbled across blindly was my Balanced Translocation. This is another genetic issue in my ‘make-up’ of chromosomes. My entire family have no clue as to where this came from (obviously either my Mum or Dad). But as they have never been tested (or my sister), I’m the one who has officially clouded our genetic roots even further.

Another challenge we found along the way was changing Gynecologists & Fertility Clinics. After our fourth failed round of IVF & having absolutely zero success growing our embryos to Day 5 Blast, we chose to change our path & found a clinic that perfectly suited our needs, overseas in another country. This added so much extra uncertainty & pressure onto our fifth IVF cycle as we had to manage it in complete isolation.

But, I would have to say the most heartbreaking challenge for me (even on top of Huntington’s Disease) was when we lost our first baby. After two & a half years of TTC, we finally were pregnant with our miracle baby. We were at awe with their heartbeat & really felt this was our time. Unfortunately it was not. And just like that we lost them. I don’t think the whole in my heart will ever go away & no rainbow baby could ever replace them.

How I Have Coped…

This is a tough question. The first thought that comes to my mind. I have no freaking idea!

I have coped because I didn’t have a choice, I had to.

Yes, I may be strong, but that’s only because I have to be.

It’s been a battle that yes has given me strength beyond words, but it also has given me emotions I never thought I could feel while trying to conceive. Such as heartache, pain, sadness, anger & jealousy.

Of course, it also helped to have a partner such as I do. He is my rock & for a long time I was mentally preparing myself to spend the rest of my life with him (just being the two of us).

I started Blueprint Warrior this January as it is something I wish I had when we were in our darkest days. I had no idea that a community of fellow warriors were so easily accessible. This community has given me strength beyond words, immense love & hope, but above all things it has given me the support I needed to feel like I can keep going.

Where Am I Now…

At the beginning of this year (January 2020), we decided that by September, we will schedule our fourth FET. I planned the dates, looked at flights, predicted due dates & how they lined up with the school year. We were ready. Then came covid-19. At first, we were okay with the restrictions on International Travel as it meant our country was safe. What we didn’t realise the extent it was going to be.

Our fourth FET cycle was planned for next month & now it is most likely it won’t happen for another year (maybe even two). I feel deflated that my medical procedure is being classified as ‘elective’ & that no International Travel can occur. What do we do? Wait? Pray? Hope? What I do know is that right now I feel stuck. We have our rainbow, who we’re so grateful for, but why can’t we move forward with another FET? Yes, our hearts are full, but we didn’t want this for us. We wanted this for our baby, so he could grow up with someone close by his, side & so he never has to feel isolated or alone.

I never thought I would be in this position again, where it would hurt to see others living the life I envisioned I would be doing too. So, for now, we wait.

-Elle

Website: https://www.blueprintwarrior.com/

Instagram: https://www.instagram.com/blueprintwarrior/

Medical Disclaimer:

The information provided in this blog is intended for general informational purposes only and should not be considered as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your healthcare provider or qualified medical professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this blog.