SART Fertility Experts - Preimplantation Testing for Monogenic Disease (PGT-M)

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Our experts are members of SART, the Society for Assisted Reproductive Technology, an organization dedicated to ensuring you receive quality fertility care. Hello there, my name is Dr. Kelly Lynch. Welcome to today's episode of SART Fertility Experts, the podcast for people trying to build a family.

Today, my guest is Jessica and she's here to talk about her journey with pre-implantation genetic testing. So Jessica, you came to us several years ago now with a very specific request and can you talk a little bit about the background and what brought you to us? Sure, so when I was a kid, my grandmother was diagnosed with ALS, which at the time and still now is a really scary diagnosis. She lived with it for about 12 years before she passed and while she was sick, we learned that our family actually carries the SOD1 gene for ALS, so we have the very rare familial form of it.

And when I was in my early 30s, my mom was diagnosed and we lost her after just four or five years of illness and we didn't know what to do at that point. My husband and I were just engaged, we knew we wanted a family and we didn't know how to do that safely, but I knew that I wanted to explore every option to not pass on this gene. I actually talked to my gynecologist at the time who told me what I wanted to do was absolutely impossible and I should give up on it and if I really wanted to go that route, I needed to look at adoption or other options, but it was important to me to try to have my own children if I could.

And so after we got married, well before we got married, my husband was very aware of everything that I wanted to do so that he was on board and there would be no surprises, but after we got married pretty quickly, we met with a genetic counselor first at our medical center and she went through all of our family history, we shared everything that we needed to, she went to her director and basically her director said, I don't think we can help them and our genetic counselor said, oh no, we are going to help this couple. And so we moved forward and moved into an egg retrieval and an IVF immediately. We never tried on our own, never went down that route, just met with Dr. Lynch and with the nurses and everybody from the very beginning just said, we're going to make this happen.

And the other thing that was really important to me was to not learn my status. As I said, we know that our family carries the gene, but I have two sisters and myself of course, and none of us know what our status is and with the data and just what we've learned from people who have found out the anxiety and the depression that comes with either side, either the guilt or the realization that you don't carry it or you do was not something that any of us decided we wanted to live with. So it was really important to me to not find out my status.

And so the testing was, we were able to kind of keep that a mystery, which we really, really appreciate. And it's allowed us to, I think, live our best lives. And we live every day to its fullest.

And we're just grateful that we have had that opportunity. Well, we are happy to be involved in your care. And I think just for our listeners who might not know what ALS is, can you talk a little bit about it? Have people talking about it? Yeah, no, I'm good.

So ALS is also more commonly known as Lou Gehrig's disease. It's a degenerative motor neuron terminal disease. A diagnosis of ALS is basically, it's a death sentence.

Most patients live two to five years with it. So the fact that my grandmother lived 12 was pretty astounding. But basically, it attacks the proteins in your nerves, and eventually shuts down your muscles.

So you become paralyzed. And over time, it will also attack your organs, your vital organs, and make breathing very difficult, can cause kidney failure, and eventually will shut down those organs. And that is what will lead to the passing of the patient.

And right now, there's no effective treatment. There are a lot of therapies that are being developed and worked on. If your listeners remember the bucket challenge, the ALS bucket challenge, there's a ton of new trials out there because of the fundraising through that program.

And so we are actually, we, the ALS community, are very optimistic that there may be something coming in the future. But right now, there's a few drugs out there that people can get on, but there's really nothing that's effective. That's quite a story.

And I think, if I remember correctly, when you first came to us, one of the things that you said is you just wanted to help the next generation. You really wanted your offspring to not have to worry like you have and have to go through what you went through. Yeah.

Yeah. So I was, when my grandma got sick, I was old enough to understand what was going on. I was about 11, I think.

And as an 11-year-old, I was very, very involved in her care. She stayed home. She stayed in her home for as long as possible up until the last maybe year or so.

And so as a young child, I would spend every weekend there by myself, basically helping to care for her and to get her around the house and to the bathroom and to bed and things like that. And because of that, we were incredibly close. And I don't regret any of it.

I don't have any... No, I would do it again in a second. Even as a kid, it forced me to grow up very quickly. So there was that piece of it.

But I wouldn't have changed how I grew up at all, other than my grandmother and my mom not getting sick. I would change that, of course. But the fact that I was able to be a part of it and to help my parents out and be that involved was something that I value today.

And I think it's shaped who I have. But it also made me live very close to it. And so having gone through that, I do not want my kids to have to worry that somebody's going to have to do that for them.

And I will definitely share that when our daughter was born in 2017, it was the very first day where I was able to look up and say, it's over. It's over. No matter what happens to me, we don't have to think about it.

I don't have to worry about it. And from that point, I can honestly say for the last three and a half years, I haven't worried about myself. I haven't worried about her.

And it's just sort of become a piece of our history. But having gone through this process has allowed it to not be a part of our present and our future so far. And so the fact that that was available and has changed, you know, sort of my whole outlook on life was something that I did not anticipate.

Because it is something that we've always worried about. And to take that worry away through my kids was pretty, it was pretty shocking that it happened. I give you a lot of credit because the whole process was pretty complicated.

And I think you, in retrospect, things are always a little bit easier than they really were. But I think there's also another big part of this for you. And that was the delay, right? So instead of just starting a family, you had to wait quite a bit, right? For some help from the genetics testing lab too, right? Because they needed to do a lot of work before we could get started.

Yeah. And that just showed to me so much, you were so determined, you had so much motivation and strength to know what you knew what was right for you and your family. And I just, I was always impressed by that you were resolute that you make sure that the next generation didn't have to suffer as your mom and grandmother did.

And I was always impressed by that from the very beginning. So yeah. Thank you.

So you have now had gone through this twice. And you can get through this from the first to the second time. So you have a few cycles.

You want to talk about that a little bit? Sure, sure. So our first cycle, as you said, it did take some time through the testing. And then I know your listeners will understand this.

I ovulated through a couple of cycles that we didn't anticipate, which moved things even later, which we told ourselves meant that I was really healthy. And my body was just saying, no, everything's good. So we did all of that.

But we had a really successful egg retrieval. The first time we were able to store, I think, three viable embryos. We did a transfer.

And nine months later, we had our daughter, there was no issues. It was an easy pregnancy. She was super healthy.

She still is. And she was great. And then we decided, I went through the whole nursing relationship and, and all of that.

And we decided we were ready to have a second we knew we had embryos in storage, we were excited, we didn't have to go through the whole process again. And then we couldn't get pregnant. So, so neither of our embryos took the second time.

So we we did, in fact, have to go through the entire process again. We we did everything we needed to we did HGH therapy, we did a pretty high. I don't know your terms for it.

But we did a pretty high end medication, pretty rigorous injection protocol. And we had a very unsuccessful egg retrieval, we only got one, and it did not it did not survive. So we went through it again.

And to, to much, much more success, we ended up with with five viable embryos. And after all of the genetic testing, four of them were approved, which is for anybody who's gone through this process, that's a huge number to go to have approved. You're we're lucky if we get 50%.

And so we were well above that. I think you mean right unaffected. Right, right.

Yes. Yeah, unaffected. Exactly.

And so we finally were able to do another transfer. And in the middle of all this, though, we went through COVID, where the reproductive lab was shut down. Those of us who have gone through IVF know that or we believe that IVF is not elective, but we were not the ones making those decisions.

So we we would just be in touch every month with the lab and kind of say, okay, here's what's going on and basically get told we're not ready yet. And so we had to wait for the pandemic to be ready for us. And then we finally had our transfer.

And it went just perfectly. And so again, nine months later, we had our son and at this point, he's two weeks old. And he's doing he's doing great.

And he he also is perfect and very healthy and, and we still have a few unaffected embryos in storage. So we don't know what the future holds yet. So we'll see.

So I want to come back to that unaffected. Because you did what's called non disclosing pre implantation genetic testing, you actually don't know if you're a carrier of the gene or not. And that was key to you being comfortable doing this process.

So we really we don't know either. All we know is at the specific site where the ALS gene is the SOD1. We just know that the embryos don't have your gene at that place.

And so we were really the genetic testing lab was just testing for what's called the maternal alleles, they were checking to see if the gene in that spot was from you or from your husband, basically. And so none of us know. And but the only thing we do know is that these, these embryos, your and your children should not be affected because of this testing.

So we're, we're really grateful and happy for you that you were able to accomplish your goal. But also maintain that your sense of well being and not have to worry. And I think that that's a real success story for for all of you.

It is and I think that you know, my sisters are younger than me. I think one of them has intentions of having a family. And I will share that when we first started, she wasn't so sure about this process.

And it was it just seems so clinical, and it seems so, you know, no intimacy and all of that. And so I think that, you know, my husband would definitely share also that you just you find ways around that. And you you decide that, you know, you're what's best for your family.

And it just becomes a different story. And now that she has seen our kids, and she's, you know, spent a lot of time with us, and, and we've talked about it as she, I think that she is probably going to go the same route. And so the fact I just keep coming back to the the fact that the opportunity is out there.

And people people just don't know about it. And one thing that has always stuck out to me, when we first met with the lab in Detroit that did all of our testing for us, I think the genetic counselor there told us that the founder found out about our story and said, this couple is why I started this company. And there, there's not a lot of what we're doing going on.

And so he was he or she I don't even know, was just really seemed really pleased that they were able to, to achieve this goal that they they had set up through us. And that that just always really stuck with both both me and my husband. And I don't know, it made us feel kind of special through a through a process that we really didn't.

Nobody wants to go through it. Right, right. But it made it as it made it as positive as possible.

Yeah, no. And and that's the key thing to know, too. There's many, many people involved in this process to make this.

No one person gets to take credit for the success. It's really a lot of work work on your part. Yeah, the genetics testing lab that helped us.

It really is and the genetic counselors that helped you understand that this was possible. Yeah, yeah. And there's, you know, there's even more than that.

I think, you know, my my dad had to do some DNA testing. We got a hold of my mom's neurologist and thank goodness they're relatively local to us. It's a Dr. Brown, Dr. Robert Brown in at UMass, who is one of the leading researchers on ALS therapies.

But we had to get them involved because they had all of her DNA testing. And so the the chain of people that we worked with was really incredible. And I'm actually about to send him an email, you know, with kind of the results of where we're at now.

Because when you get involved in this community, you're kind of in it forever. And so they, you know, as far as they knew, we were the first ones on their end who did this as well. And they've kind of alluded to this this is a way to stop it.

You know, not just for our family, but for for, you know, the whole community. But it's expensive, it's time consuming, and but it's worth every bit of it. What a great story that you tell.

Is there anything else that you would want other patients who might have a genetic disease in their family to know about this process or anything else that people might not realize before they get started? I think just be prepared for the unknown. We absolutely went into this process assuming that I was I was healthy, and I am, but assuming there would be no, no challenges. Or, you know, having not tried to get pregnant on our own, we made the assumption that everything would be fine, boom, we take care of it.

And then when that secondary infertility hit, and it took us almost two years to get pregnant the second time, that was something that we were completely unprepared for. And that actually became harder than thinking about the the genetic testing process, because we didn't plan for it. So if you go into this, and just just do plan for the unknown.

I'm not going to say plan for a pandemic, because hopefully we never have to go through that again. But anything can happen. And this is a an incredibly tricky process.

And so if you know that going in, I think it's a little bit easier to to manage and to deal with. Jessica, thank you so much for sharing your story today with SART fertility experts. We are grateful for the time that you took to tell us exactly everything that you've been through.

And thank you again. I hope you have a good rest of your day and enjoy your family. And for patients with ALS everywhere, hopefully this will give people some hope and hope towards a cure eventually as well, too.

Yeah, thank you so much, Dr. Lynch. I appreciate it. Thank you, Jessica.

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