Navigating IVF While Battling Alper's Disease | Anna's Story

When their son Wyatt was only seven months old, Anna and her husband discovered he had an incurable genetic condition called Alper's Disease. Devastated by his diagnosis and worried about their future children being affected, the couple sought genetic counseling and IVF treatment.

What follows is their story of grief, love, courage and joy. 

In this article:

• Meet Anna
• Wyatt's Story
• The Night Everything Changed
• A Devastating Diagnosis: Alper's Disease
• Bringing Wyatt Home
• Finding Joy & Celebrating Milestones
• The End of Wyatt's Journey
• Would IVF protect our future babies?
• Developing a New Probe for Alper's Disease
• Mourning Our Son While Navigating IVF
• Welcoming Our Daughter
• What Wyatt Taught Us

Editor's Note: We are so grateful to Anna for being willing to share her story with us in honor of National Infertility Awareness Week. Her story contains discussion of difficult topics such as genetic disease and infant loss. If you're not in a place to read about these subjects, please save this post for later.

The following story is told by Anna, in her own words. 

Meet Anna

My husband and I met in 2014 through his sister, who was my best friend in college. We hit it off right away and as they say, the rest is history!

Even before we got married, we both knew that we wanted kids. I had come from a large family and loved growing up with my three siblings and countless cousins. We got married in June 2019 and quickly got pregnant with our son Wyatt, who was born on our first wedding anniversary the following year. 

Wyatt's Story

Wyatt stole the hearts of everyone around him from the very beginning. His blue eyes and crazy blonde hair were admired by all. Wyatt’s smile could light up a room and his little growl made everyone around him laugh.

He was a busy boy who loved trucks, his play gym, long walks through our town, his giraffe binky, and his maraca. Wyatt loved solid food, and his favorites quickly became sweet potatoes, blueberries, and vanilla ice cream.

Our first seven months with Wyatt were spent watching him explore the world and reach his monthly developmental milestones. His personality could melt your heart and his big eyes were always full of wonder.

Life as we knew it was perfect.

That all ended in the middle of the night on February 19th, 2021.

The Night Everything Changed

We found Wyatt having a seizure when we went to give him his nighttime bottle.

We rushed to Danbury Hospital and were quickly transported to Connecticut Children’s Medical Center (CCMC) in Hartford, CT. His seizure would not break, and 15 hours later when it became increasingly life threatening, he was put into a medically induced coma.

Wyatt came out of his coma a week later, but was still seizing, and had experienced significant physical regression. As medical teams worked to stop his relentless seizures and determine the underlying cause, there were no answers.

A Devastating Diagnosis: Alper's Disease

Three weeks later, the seizures were finally starting to get under control. As we prepared to be discharged with a generic Epilepsy diagnosis, we were informed that the hospital had finally received the results of the more extensive genetic testing.

Our world was turned upside down when we learned about his progressive mitochondrial disorder, called Alper's-Huttenlocher Syndrome, which was incurable.

With Wyatt’s severe symptoms starting at just seven months old, we were told he would likely only survive his diagnosis for several months. We left the hospital that evening determined to do whatever it would take to give Wyatt the best life possible.

Bringing Wyatt Home

It felt great to be home with Wyatt, surrounded by family, giving him as much love as possible. But the frequent, severe seizures led to more stays at CCMC.

With our long, extended stays, the nurses and staff at CCMC became like a second family to us as we celebrated some major life events with them, including a few of Wyatt’s monthly "birthdays," Easter, and Mother’s Day. Their kindness and love for Wyatt made long hospital stays a little more bearable.

Wyatt had the support of not only his family and medical staff, but also the entire community where we live. We were lucky enough to connect with the SCOTTY Fund, who made sure Wyatt got the best care and allowed us to spend as much time with family as possible.

We met so many incredibly kind people throughout Wyatt’s journey. 

Finding Joy & Celebrating Milestones  

When we were fortunate enough to be home, we spent our days making beautiful memories with Wyatt. We loved spending time in the kitchen, cooking and baking while listening to Disney songs. He also enjoyed neighborhood walks and floating in the pool.

Therapy also became part of our daily routine. Wyatt quickly captured the hearts of his therapists at Ivy Rehab. He loved showing them everything he could do, from bouncing on a big red ball to babbling away to show how happy he was. With the daily therapy and a lot of love, Wyatt continued to surprise us all by making small strides each and every day.

In June, we were able to celebrate the biggest milestone of all, Wyatt’s first birthday. We spent his "Wild One" with family, enjoying a "Where the Wild Things Are" theme. 

The End of Wyatt's Journey

As time continued to pass, we felt that we were finally in a good place with managing our new normal. However, in July 2021, when we brought Wyatt back to CCMC for a routine appointment, our bags were already packed, as we could sense something else was going on with him.

We were admitted that day and soon learned that Wyatt was in acute liver failure. This is another terrible symptom of Alper's Disease, and the prognosis this time was even worse than we'd received back in March.

Despite the heartbreaking news we received, we tried to make the most of our remaining hospital stay by singing along to Disney movies, hosting a baptism for Wyatt, and cuddling him as much as he could handle.

When we finally got the opportunity to return home with Wyatt, we continued making memories by taking trips to Silverman’s Farm in Easton, CT and getting ice cream at Dr. Mike’s in Bethel, CT. We feel incredibly lucky to know we were able to create so many incredible memories with our beautiful boy.

Wyatt passed peacefully on September 4, 2021 with his Mom and Dad by his side and his favorite giraffe binky in hand. Wyatt was the strongest, bravest boy we know, and we could not be prouder to be his parents. It brings us peace to know that Wyatt was the happiest boy throughout his entire journey and knew nothing but love during his short lifetime. 

Would IVF protect our future babies?

When we first learned about Wyatt's genetic disorder, we quickly realized that this devastating disease could occur anytime we naturally conceived a child.

We connected with Illume Fertility in May of 2021, becoming patients of Dr. Cynthia Murdock, who shared what we could expect through in vitro fertilization (IVF) with PGT-M. She was so kind and empathetic to our situation.

What is PGT-M? Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M) is used to look for specific known genetic conditions in the family.

We also went through genetic counseling with Jamie Speer, where we learned about our individual genetics and how they can be passed to our children. Thankfully, we were able to meet with both Dr. Murdock and Jamie via telehealth, which was necessary, as most of our appointments took place in the corner of a hospital room while Wyatt slept.

We learned that my husband and I both carried a mutated gene called the POLG gene. Two copies of this gene (one from my husband and one from myself) were passed to Wyatt, causing his Alper's Disease. My husband and I both carry one copy which makes us carriers of the disease (which means it doesn’t impact us at all).

Embryo testing explained:

A genetic counselor answers common questions about preimplantation genetic testing (PGT) and explores how the information it provides can help families like Anna's. 

Developing a New Probe for Alper's Disease

We also went through extensive genetic testing, which was performed via a simple blood test, to ensure there wasn't anything else genetically going on that we could potentially pass to a future child - thankfully there wasn't.

From there, Jamie explained that we would go through the normal IVF process, but before transferring our embryos, we would have our embryos tested to determine if they had two copies of the mutated POLG gene. However, this testing device (our probe) did not yet exist.

We were told that we would be creating the probe ourselves (how cool is science?!) and my husband and I both gave blood and saliva samples while our parents gave saliva in order to create this probe that would eventually test our embryos.

While building our probe, we sadly lost Wyatt to Alper's Disease. We were devastated, but knew he would be right by our side through this journey to his future siblings. We like to think of him as being our own personal guardian angel, looking down and protecting our family through this process.

Mourning Our Son While Navigating IVF

After about ten weeks of development, our probe was finally built and we were able to officially begin our IVF cycle. There was the physical pain of needles and procedures, but it felt as though the emotional pain far outweighed all of that.

We had so much fear that something could go wrong, like it had with Wyatt, but also the feeling of guilt that we would get to continue on living a life that was denied to our son. It just didn't seem fair to him. He should be here, he should get to meet his future sibling - we knew he would have made the best big brother.

We tried to shift our mindset to a more positive outlook as we navigated fertility treatment and looked toward our future without Wyatt. He would still be an amazing big brother, but just in a different light.

To be honest, he was the one I thought about when things were difficult during IVF. I would think, Wyatt got poked so many more times, he was so strong, I can be strong too. We just know Wyatt would want us to continue living for him.

After our egg retrieval and embryo testing (which took about eight weeks from start to finish), we were left with one perfect, non-carrier embryo (meaning this embryo got two normal copies of the POLG gene and wouldn't carry Alper's Disease).

We set up our embryo transfer. I remember laying on the exam table, crying as the doctor completed the transfer. It felt surreal to think this could be it - I could be pregnant again. 

Welcoming Our Daughter

About a week later, we got the call. We were pregnant. I thought I would feel so relieved to know it worked, but I was immediately filled with worry. What if something goes wrong?

Being pregnant again was definitely a rollercoaster ride of emotions. So much joy at continuing my journey as a mother, sadness that my babies would never get to live this life together, and fear that something could go wrong.

Thankfully, after a long nine months and relatively uneventful pregnancy, I gave birth to our daughter Reagan in December 2022. She is healthy and perfect in every way and we could not be more grateful to our Illume Care Team, our families, and our community for all the love and support along the way! 

What Wyatt Taught Us

Throughout this process, I learned so much. First, I learned a lot about my community. It truly is amazing how kind and generous people can be. It’s a really nice reminder that we are never alone during this process and it’s okay to ask for help.

I also learned a lot about my relationships. My husband and I became even stronger, balancing each other out as we grieved and grew together. You really learn who you can lean on and rely on when things are difficult. Luckily, we have so many wonderful people in our lives.

Through Wyatt's battle with Alper's Disease, I learned a lot about myself and how strong I could be as a mother. The love a mother has for her child is something that is indescribable. And Wyatt taught us the most valuable life lessons: worry less, smile more, love harder, and do all that you can to enjoy everything this life has to offer.