Episode 78: Genetic Testing: Preventing a Rare Blood Disorder Through PGT-M

Growing up with a rare blood disorder can flip your world upside down. It can also make you question what to do when it comes to building a family and what options are even available. Luckily, science has progressed to a point where genetic testing before IVF can help increase the odds of a healthy singleton baby.

In this episode, Rachel Russell tells us her story on balancing Diamond Blackfan Anemia (DBA) while still wanting to have a child. DBA is a dominant disorder that primarily affects the bone marrow, which can cause anemia. There’s a 50% chance the disorder can be passed on, which meant Rachel and her husband were stuck on what to do. After extensive research, the Russells decided to move forward with PGT-M (Preimplantation Genetic Testing for Monogenic, formerly known as PGD), so the doctor could transfer an embryo without the rare disorder.

We also hear from Dr. Beth Plante, a reproductive endocrinologist at Fertility Centers of New England, who breaks down how PGT-M works.

For other episodes on genetic testing, check out:

• Episode 46: Genetic Testing: Can it be Non-Invasive?
• Episode 45: Genetic Testing: Is it Cost Effective?
• Episode 44: Genetic Testing: IVF and Fruitful Fertility

Guest: Rachel Russell, Infertility Advocate

Expert: Dr. Beth Plante, Fertility Centers of New England

Host: Shannon Zuber

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Have a question, comment, or want to share your story? Email us at thisisinfertility@progyny.com.

Here are some highlights from this episode:

Diamond Blackfan Anemia
3:26-5:45

Rachel Russell: DBA is like a bone marrow failure disorder. So, your body fails to produce enough healthy red blood cells. So, you are much more susceptible to catching illnesses. Your immune system is definitely compromised, and you do require treatment. So, you would require either steroids or blood transfusions to make sure your levels are stable. There’s a lot that goes along with it when you have a chronic illness because you have to maintain it and watch it your entire life. You have to always be on top of your treatments and your levels just to make sure everything is stable. I was diagnosed with Diamond Blackfan Anemia, also called DBA when I was almost three years old, which is not normal for that diagnosis. Typically, people are diagnosed with DBA from like birth to six months. So, the fact that I was almost three when I was diagnosed, I’m kind of like a medical enigma in that sense. It’s something that has been a part of my life- my whole life.

Shannon Zuber: DBA is an incredibly rare disorder that only affects about 1,000 people worldwide. And like many disorders, it can impact people in different ways. Well, it’s fair to say that Rachel was incredibly unlucky to wind up with this disorder, but she has been fairly lucky concerning the impact it’s had on her life.

Rachel Russel: I went through a little bit of treatment and I went into a spontaneous remission pretty quickly after I was diagnosed, which was pretty awesome because people who have DBA, it is a chronic condition, it’s something you will have your whole life. There’s no cure for it. I haven’t needed lifelong treatment because I’ve been in remission. But people who typically who have DBA are transfusion or steroid dependent their whole life. Remission is definitely not as common. I think there’s only like 20% of people with DBA, who have been in remission. And sometimes people go in and out. I have been lucky that I’ve been in remission for about 32 years.

Having a Child with DBA
5:57-6:51

Rachel Russel: Even though my DBA has been on the milder side that wouldn’t guarantee that my child’s DBA would be on the milder side. They might be steroid dependent or transfusion dependent for their lives. And for me, that was just too high of a risk. I knew what it was like, growing up with a life threatening illness, even being in remission, it was still challenging because you always kind of have that in the back of your mind, like, what if I relapse.

PGT-M
9:44-10:38

Shannon Zuber: Today, we’re taking a closer look at PGT-M, as that was the category of tests that would help Rachel and her husband ensure that their child doesn’t inherit the disorder. First thing to understand is that PGT-M can only be used alongside IVF.

Dr. Beth Plante: So in the world of IVF, we take eggs and combine them with sperm and create embryos. And then those embryos are ultimately transferred back to the patient in hopes that the embryo will implant and she will hopefully successfully conceive. But we do have the ability to screen those embryos for some things in advance and we can’t screen for everything in advance, but we can screen for many genetic issues in advance.

Shannon Zuber: So this is a screening test. This is not a cure for embryos.

Waiting to Start IVF
18:52-21:07

Rachel Russel: While we were ready to start right away, because of my blood disorder, I had to go through a lot of clearance appointments with doctors just to make sure that I was I was good to start. Once we got that we were able to start with the IVF. The first step in the process was the genetic part. The lab had to create these things called genetic probes, and the genetic probes are what tests the embryos for my specific DBA gene. So, I am lucky in the sense that I know which gene is affected with DBA. So, my gene is RPL-11. However, people with DBA don’t always know their gene. So the fact that I knew my gene was great, but because my gene deletion was so large, the lab had a really difficult time creating the genetic probes. That process usually takes about two months under normal circumstances. However, because my gene was such a challenge, it took six months.

Shannon Zuber: Waiting an additional six months to begin IVF after already having to spend a lot of time and energy on other screening tests was difficult for the couple. But they knew they were waiting for a good cause. When the probes were finally able to be created, the couple found themselves waiting some more.

Rachel Russell: Then we had to wait for me to get my period to start the IVF process. You know, typically people have their periods monthly. I was on a little bit of a different schedule, and it wasn’t until January that I got my period. So, it took a little bit longer, but that’s okay. I knew it was going to be a process. I knew it was going to take time. So, I learned a lot about patience. You know, I learned that this is what it is. This is life and you learn how to take things as they come.