Upon learning she carries a gene putting her at high risk for breast and ovarian cancer, Arianna makes the difficult decision to undergo major, life-altering surgeries to protect herself. As a single mom of two confronted with an uncertain future, she shares her journey through infertility, coping with a rare genetic disorder, and why she chose to pursue egg freezing.
In this article:
- Meet Arianna
- Searching for Answers About My Fertility
- On Ending My Marriage & Becoming a Mother
- How I Found Out About My Cancer Risk
- Taking Drastic Measures to Protect My Health
- Exploring Ways to Preserve My Fertility
- Is egg freezing right for me?
- My Egg Freezing Journey
- Egg Freezing Gave Me Hope Again
- Finding My Own Strength
Editor's Note: We are so grateful to Arianna for being willing to share her journey with us in honor of National Infertility Awareness Week. As both a patient and an employee at Illume Fertility, Arianna shares her unique perspective on infertility, loss and fertility preservation. This is her story, in her own words.
I always knew I wanted to be a mother, and dreamed of having the most perfect little family. But I quickly realized that having a family doesn't come easy to everyone.
After getting married in my early twenties, my husband and I tried to conceive for around one year - with no success. That's when we decided to seek help.
We reached out to a fertility center and started treatment. We went through all kinds of fertility testing, did a year of medicated cycles, and spent three years total of working with a reproductive endocrinologist, unfortunately experiencing several losses along the way.
I started to give up hope, but it didn’t stop me from desperately wanting to become a mother.
In addition to the standard fertility tests, we were offered pre-conception genetic carrier testing, and we opted to move forward with that to see if anything was wrong. To our surprise, all of our diagnostic testing, genetic testing, and most of our blood work came back as normal. This was honestly a shock.
One of my only abnormal test results was my Anti-Mullerian hormone (AMH) level, which was below 1. This was extremely low for someone my age (I was only 23 at the time). It began to seem like my chances of starting a family were slim to none.
My doctor told me we had unexplained infertility, and that was devastating. After going through several pregnancy losses and spending multiple years trying to conceive, it seemed hopeless. Everyone around me was getting pregnant quickly, and I felt jealous that it was so easy for them, yet so difficult for me.
To some degree, when you're struggling to conceive, you almost wish your team would find something wrong, so at least you would have some concrete answers. But instead, I had no idea as to why this was happening.
All I kept thinking was "Why me? Why am I struggling so much to have a baby?" It was a horrible feeling. At the time, only my close friends and family knew what I was going through, and no one really had the “right” words to say.
I felt like I was the only one battling infertility - not realizing at the time how many other people were actually going through the same thing as me.
Infertility took a huge toll on my marriage, which eventually ended.
Through all the heartache and misery, I very miraculously conceived my first son, Zachary. He was truly a blessing. It was a very complicated pregnancy, and when he was born, I still couldn’t believe I finally had a son.
After Zachary arrived, we discovered he had bilateral congenital cataracts, as well as congenital glaucoma. I was also born with the same condition. The difference between my son and I was that the severity of the disease left him blind.
I went on to have another miracle son, Sawyer. He was also born with the same genetic disease his brother and I have. Never in my wildest dreams would I have imagined I'd end up with not one, but two amazing little boys. After so many years of unexplained infertility and worrying about my low AMH, I was elated and over the moon to finally be a parent.
I have been raising Zachary and Sawyer as a single mother. It has been a unique experience, since I created my family in a very non-traditional way and didn’t really know anyone else who wanted to have children without being married.
After having two boys with the same genetic disease, I decided to do more genetic testing to get answers about our condition and how it might impact my future children.
I met with a genetic counselor and we ran a bunch of genetic testing panels. I learned that I am a carrier of a rare genetic disease called CRYBB2, which is also what both of my children have. I felt like I finally had some answers.
Unfortunately, through this process, I also learned that I had the BRCA2+ gene, which is the gene responsible for ovarian and breast cancers. While this was scary for me to learn this information, it was important for me to know, because many women in my immediate and extended family have had breast cancer and other reproductive cancers.
When my medical team told me the news, I felt very overwhelmed - beyond words. I knew that I needed to take action to try and protect myself from the same cancers my family had battled. I went in for a mammogram and they found suspicious activity in my breast.
What does it mean to be BRCA+? A positive test result means you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a much higher risk of developing breast or ovarian cancer, compared with someone without that mutation.
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This has been one of the hardest things I’ve had to go through, especially at only 30 years old.
I would truly be lost going without the support of my mom. She has been so supportive and encouraging, helping me make lots of hard decisions I never thought I would have to make.
My oncologist and I both agreed that the right course of action for me would be to undergo a bilateral salpingo-oophorectomy (removal of both ovaries) and a bilateral mastectomy (removal of both breasts). I took this news pretty hard, as you might imagine.
I spoke to my oncologist and told him I didn’t think I was done having children yet. This was a big factor in my prophylactic treatment decision. My wonderful team and I came to the agreement that I would freeze some eggs and proceed from there. I scheduled my surgeries and decided it was time to begin egg freezing.
Thankfully, at this point on my journey, I was already an employee at Illume Fertility! I had a very hard time deciding who I wanted to be my doctor and help me through this process.
From my very first day at Illume, Dr. Joshua Hurwitz was always there for me and happy to listen to me talk about the craziness that I call my life. I ultimately decided that he was going to be the one to help me preserve my fertility.
Dr. Hurwitz was honest with me from the get-go, telling me that freezing my eggs was not a back-up plan or an insurance policy that I will necessarily be able to have more children in the future. That wasn't something I really thought about until after we discussed it. He sat down with me and showed me all of the statistics he could to help me make an informed decision.
At age 30, with a rare genetic disease as well as BRCA2+, it was important to get all of the information I could before I decided if egg freezing was the right course of action for me. It was so helpful to see everything - all the facts - laid out for me right there on the screen.
Dr. Hurwitz also explained to me that low AMH levels and the BRCA+ gene can often go hand in hand, which I never knew. It explained so much. Dr. Hurwitz gave me hope that if I do want another child one day, that will still be a possibility for me, even when my ovaries are gone.
Beginning my fertility preservation journey was really hard for me at first. I was completely alone, giving myself daily injections and trying to navigate these big life stressors solo. In addition to the physical challenges of an egg freezing cycle, the emotional and mental exhaustion of navigating it all was starting to get to me.
I didn’t have many follicles growing (which was expected with my very low AMH level) and even though I knew this was going to be the case, it was still really upsetting. I kept pushing through and hoping for the best. I wouldn’t have been able to get through it all without my Illume team. They have been so supportive of me, not only as coworkers, but as friends.
When the day of my egg retrieval came, I finally got some good news. After waking up from my procedure, they gave me the most amazing update: they had been able to retrieve more follicles than any of us expected!
That was the best news I’d gotten throughout this whole journey.
It's a relief to know that when I’m ready to grow my family again, my eggs will always be 30 years old. So if I decide 10 years from now that I want to have another child, I won't have to worry about how old my eggs and I are.
Finding out that you need to have your ovaries removed is huge. It’s something you can’t take back. Illume helped me make a very permanent situation feel a little less permanent, and allowed me to keep my options open for the future.
I'm so glad I was able to pursue egg freezing, and equally grateful for Dr. Hurwitz, who has been very involved, not only in my egg freezing journey, but in helping me navigate being BRCA2+.
Egg freezing isn’t something that’s talked about enough - and it should be. So many people don’t even know it’s an option for them. I wish there were more stories shared about fertility preservation, and that’s why I chose to share mine.
If you are looking to freeze your eggs, whether it’s because you're not ready to start a family yet, for fertility preservation purposes, because your “biological clock” is ticking, or something completely different, I strongly suggest doing some research and following your heart.
If you have any doubts, talk to a fertility doctor, seek advice from other professionals, or reach out and talk to people who have gone through it.
The reason I chose to share my unique journey is because no matter now much I searched, no one ever seemed to have a similar situation. People freeze their eggs for so many different reasons, but I never came across a story that resonated with me. With that in mind, I hope that me sharing my story can help someone else who may be feeling alone.
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Looking back on the past eight years of struggles, tears, feelings of hopelessness, the yearning to have a family - it has all lead me to this. I am stronger because of all of the challenges and setbacks I have faced. The desire to be a mom has always kept me going.
Even though I have my two wonderful sons, I still feel like our little family isn't complete.
I hope to one day find Mr. Right and continue to grow our family with my newly frozen eggs. But even if I don’t meet someone, I know my eggs will always be there for me when I’m ready.
If you are facing genetic issues, low ovarian reserve, unexplained infertility, or any other fertility issues, I want you to encourage you to never give up. I know how hard it is to feel like it’s never going to happen for you, but there is always hope.
If you want to build a family, keep going. Be patient with yourself and your journey.
There are so many other people out there experiencing similar struggles, even if you don't see them. You are never alone. Reach out for support, ask lots of questions, and don't stop fighting for your future family until you achieve your goals. You've got this!