Fertility preservation using IVF with PGD-M is helping end stomach cancer in my family

When I learned six years ago that I carry a genetic mutation called CDH1, my initial response was anger. I had just gotten married, and my husband and I were looking forward to starting a family. That discovery put a serious monkey wrench in our plans.

But the mutation was bad news not only because it significantly increased my own risk of developing breast and stomach cancers. It also meant that any children we might have could share in this terrible legacy. That thought was really hard to accept.

My risk of developing stomach cancer was so high that the recommended course of action was to have my stomach surgically removed, even if I didn’t have cancer yet. I put it off at first, but got so tired of worrying about it that I finally had it done at MD Anderson in 2017.

Today, I’m really glad that I did. Because the pathology report showed early cancer cells were already present in my stomach. And having the surgery first gave me time to learn about IVF with PGD-M. That has enabled my husband and me to protect both our unborn son and any future children we might have from CDH1 — and to give my family some peace of mind.

Exploring our options leads to IVF with PGD-M

My surgeon, Dr. Paul Mansfield, wanted to make sure I’d completely recovered from my gastrectomy before trying to conceive. So, I waited about 18 months to reach out to MD Anderson’s Oncofertility Consult Service.

There, I met with Dr. Terri Woodard, who told me about the various options available to start a family. One was IVF with PGD-M (in-vitro fertilization with preimplantation genetic testing for monogenic or single-gene defects). I had heard of it before, but didn’t really know much about it.

It turns out that PGD-M allows embryos created through IVF to be tested for specific genetic conditions prior to transfer to a uterus. That reduces the chances of passing on defective genes. If we did it, there was at least a chance we could eliminate this threat — both in our children and in generations to come.

Elated to be pregnant with our first child

You might think the decision to proceed with IVF with PGD-M was an easy one. But I had some misgivings about it initially. So, my husband and I prayed about it and talked it over with our family and friends. Ultimately, we decided this was the best way for us to have children.

Once we’d made our decision, we contacted a fertility center close to our home in Michigan. We started working closely with a reproductive endocrinologist, a genetic counselor and various reproductive lab technicians in early 2019. They guided us through the process of egg retrieval and transfer.

First, we completed two rounds of egg retrieval. Then, each egg was fertilized with my husband’s sperm and given time to grow in the lab. Embryos that survived the first five or six days were frozen, and a few of their cells were extracted and sent to a lab in Chicago. Technicians there then tested the cells, looking specifically for the CDH1 mutation and any other chromosomal defects.

Ultimately, three frozen embryos were deemed good candidates for transfer. We transferred the first one on Feb. 25, 2020, and I am now almost six months pregnant with our first child. Our son is due on Nov. 12, 2020, and we could not be more excited.

Why it’s all been worth it

Starting a family this way was not easy. The egg retrieval process alone required hundreds of shots, lots of medication, countless ultrasounds and a bunch of lab work. Being pregnant during the COVID-19 pandemic is no picnic, either.

But knowing that my son will not have CDH1 — and that his risk for cancer will be no higher than the average person’s — means everything to me. Now, I’ll be able to rest easier whenever he throws up or complains of a tummy ache, knowing he isn’t any more likely to develop stomach cancer than any other child. That alone makes it all worth it.

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