When your beloved has polycystic kidney disease and you want to have children together
Test the fetus? Test the embryo? Do nothing? The path is less clear than you think.
Full disclosure: I met Nell Greenfieldboyce way back in the late nineties, when we were both reporters for New Scientist magazine. We hit it off, and became friends. These days we keep in touch mostly through Facebook. So it was a surprise when her publicist told me she had written a book.
I do not review friends' books, even though many of my friends write books and many of those books are excellent. But I told the publicist that if she still wanted to send me a galley copy, I'd be happy to receive it.
I had no idea what her book was about, and for a week it sat unopened on my bedside table. When I picked it up and saw a long essay entitled "My Eugenics Project," you can imagine how I was intrigued.
I could not put it down.
Greenfieldboyce, now a science reporter with NPR, agreed to speak with me about the essay. Below is our Q&A.
You can (and should) read the full essay in her book, Transient and Strange: Notes on the Science of Life.
14 minute read
You found out your husband had polycystic kidney disease while you were dating. What was that like?
I was surprised by how unhappy I was about it. It wasn't going to influence whether I ultimately stayed with this person I was in love with, but still, it just seemed like something we were going to have to deal with. This is a dominant disorder, so there's a 50 percent chance that your offspring will get it. If you get the gene, you pretty much will have the disease — it's not ambiguous. To me, that seemed like a big deal. To my husband, it was not a big deal.
What did you think about when you thought about your future children?
I assumed that I would try to take steps to prevent this disease from being passed on. It just seemed like a disease that would destroy a couple of organs in your body would be best avoided. It was not like that to my husband. He did not think it was affecting his life in a major way and, therefore, he saw no reason to do much of anything.
It was interesting to see that medical interventions we take for granted these days are actually pretty recent. You write that dialysis only started in the 1950s and kidney transplants were still new in the 1960s. By the early 2000s, doctors had managed to do preimplantation testing on an embryo to screen out polycystic kidney disease. Did that give you some hope?
I didn't see it at the time. It wasn't until we started talking about having a kid and I went to see my gynaecologist and she was like, 'You really should look and see what's available now.' That's when I learned that there had been this first case of doing IVF with genetic testing of embryos to avoid passing on this very disease.
What did you think about it?
I am a science reporter. I had interviewed some of these scientists, for other stories. So when I looked at this paper, it wasn't like some abstract idea. It was like, 'Oh, them. They did it.' For me, it was something very familiar.
For my husband, it wasn't. He's not opposed to IVF. I mean, he knows people who've had babies through IVF, and he thinks it's wonderful that people can do that. But in our situation, he didn't see any reason to do all of this stuff — to pay thousands and thousands of dollars, to go consult with strangers, to have our child literally conceived in a laboratory. He just saw no need for it. Why do that? It was a real sticking point between us.
You spoke to a genetic counsellor?
Yes, and they give you all the options, from using donor sperm to doing IVF. But one thing they talked a lot about was doing fetal testing. So basically, you get pregnant the old fashioned way, and you test the fetus.
And if the fetus has the disease, you terminate.
Yes. Now, before we had even gotten married, my husband and I had discussed that possibility. And we both agreed that we would not do that.
Okay.
Yeah. When we were talking about this disease before marriage, we were basically saying to each other that it doesn't seem like anything that we would test a fetus and choose to end the pregnancy over. That's what we said. And then, you know, four or five years later, when we're trying to come to some decision about what to do, suddenly it's back on the table.
It wasn't the path that I wanted, it wasn't the path my husband wanted, and yet we found ourselves going down that path, because it seemed to be some way of giving each of us something that the other wanted. I would get to take action to avoid this disease. And my husband wouldn't have to deal with IVF and everything that involved.
You say in the essay that you warned your husband: you would abort an affected fetus if it came to that.
In retrospect, what do I think about this? I mean, I was pretty unhappy. I did not like the idea of possibly ending a pregnancy with a fetus I had conceived with my beloved husband. I was not excited about that idea at all.
And I made a lot of assumptions about my own ability to get pregnant, assumptions about my body always working flawlessly. Because that had been my experience. The norm for me was that my body, generally speaking, did not stand in the way of things I needed to do. I just assumed that I would quickly get pregnant, and that if I ended a pregnancy, that I would quickly get pregnant again. That was my mindset, which, looking back, seems naive.
In the end, you didn't have to face that difficult decision.
No, and I'm super glad I didn't. But the reason I didn't face it is that I didn't get pregnant. Maybe because I was trying to get pregnant with somebody who was in chronic renal failure.
It was around this time that your husband was told by his doctor that his kidneys were failing, and that he might have to do dialysis.
He was told he had to do dialysis.
Right.
I had found some research showing that men with renal failure often have problems with infertility. So my husband agreed to go get his sperm tested. And that's when we spoke with a fertility doctor. The advice we got was that if we were serious about having kids and avoiding polycystic kidney disease, doing IVF with testing and selection would be the best way to go.
Because of my age at the time — I was 33 — and because I wasn't coming to the clinic about infertility, the doctor assumed that my ovaries would respond to the drugs and give us an abundance of eggs. And that was really important for our plan. Because with a dominant disease, you know, chances are that 50 percent of your embryos will be affected by the disease. That means you won't be able to use half of your embryos. I just assumed that this would be successful, and that I would quickly have a baby without this disease gene, and the whole thing would be behind us.
But that's not what happened.
No. It didn't work. In response to the drugs they gave me, I made very few follicles — so few that in the first round of IVF we did not attempt to retrieve any eggs. There were just so few, the doctor didn't think we should. So we stopped, and then we did another round of drugs. As people who are familiar with this field know, these drugs are very expensive. So I'm injecting thousands and thousands of dollars into myself, and my hormone levels aren't really budging. And when they look at my ovaries, they're not seeing more than a couple of follicles. I forget the exact numbers, but it was not the abundance of follicles that I had been promised.
The doctor just didn't think it looked good. I didn't know what to think. I'm not an expert in this. And you have to remember, my husband is not 100 percent on board. And so it seemed better to just stop.
What did stopping feel like?
Honestly, my husband was relieved. I mean, he was sad for me, because he knew it was something that was important to me. And he knew that I was unhappy — suddenly, my whole reproductive capacity was thrown into doubt. Why didn't I get pregnant before? Why didn't IVF work? It was a tough time. But his dominant emotion was one of relief, and he remained totally optimistic that one way or another, we would find a way to have a family.
Your husband had decided not to do dialysis but to go for a transplant instead.
Yeah. So basically our life just became medical appointments. I was visiting the reproductive specialists, doing all the tests and scans and everything, and my husband was visiting nephrology specialists, going through the steps to get a kidney transplant. He got his transplant right after — like weeks after — we gave up on IVF.
So this disease was now right in your face. I guess you already knew how it had affected his family.
His grandfather died early because of this disease. His mother got this disease and had a transplant in the early 1980s, when transplantation was still not a regular thing. They used cadaver organs then, and the medicines used to suppress the immune system were really harsh, and left you with a lot of side effects. Medicine definitely helped his mother live longer, but she had rejection episodes, she broke bones, she had other issues like that.
And so, yeah, it had been another 20 years after his mother had her transplant, and medicine had advanced some more. We didn't really know how much it had advanced, but I can tell you right now that what they can do with kidney transplants is extremely impressive. I mean, my husband got a kidney from a living donor, and the drugs have been not a big deal. And as my husband correctly had asserted, this disease has been no big deal for him. Other than taking these pills every day, and having had that surgery, it's just no longer an issue for him.
You reflect in the essay about what 'genetically normal' means. You write: 'But what is normal? To me, normal was living life without counting down the days to total kidney failure; to my husband, having an organ transplant looming in his future was as unremarkable as drinking his morning coffee.'
People's view of what's normal and what's not is shaped by their experiences. And so what they choose to do can seem completely incomprehensible to another person. For some people having a cancer predisposition gene is totally normal. It's just not a big deal. They live with it every day. For another person, passing on that gene would be intolerable, even though it's just a risk of cancer. I feel that I myself have shifted on these issues quite a lot.
I have to remind you that I was a reporter. I had reported on these issues. I had talked to other families who went through things. But to find myself in that position was very different. And I think that's one of the reasons that I wanted to write this essay and to write it the way I did. The twists and the turns and the sort of groping nature of it — if you haven't been through it yourself, I don't know if you would appreciate it in the same way. Despite all my reading and reporting on these issues, you know, it wasn't like the path was clear to me.
If you asked me now, I would say that I should have put more weight on the experiences of the person who actually had the genetic condition I was so focused on trying to avoid. I wish that I had listened to my husband more. Because I think that he had a wisdom from his own lived experience that I didn't have. But I was like every would-be parent — I was just doing the best I could at the time.
How did counselling affect your decisions?
I thought a lot about the fact that when you see a genetic counsellor, if they're practicing according to their professional guidelines, they are very non-judgemental, and they give you all the information. That, in my experience, was how they were. The idea is, we give you all this information, and then we let you make your own choices. But in some ways, I feel that being exposed to all this medical infrastructure around this, even though there purportedly is no influence — it might influence people, right? And I think that's a difficult issue.
So you started out thinking you would get pregnant and test the fetus, but that didn't work. You switched tracks and tried IVF, thinking you would produce a large number of embryos and screen them for the disease, but that didn't work either. At that point, you'd paid for the IVF, the IVF medications, a personalized test to detect your husband's specific disease gene in a fetus and another to detect it in an embryo — many thousands of dollars — and you still didn't have a baby. But I know you have two children. What did you do?
We just got pregnant and had babies.
No testing.
We did a certain amount of genetic screening, for diseases that could be devastating, but we didn't screen them for polycystic kidney disease. We just had babies. We just had babies. And they're awesome. And I love them.
So they may or may not have inherited the disease gene.
Yeah, I do not know. And I find myself not caring. The fact that our family has this kidney disease gene floating around is not secret. It's not secret from them. It's not secret from anyone. I hope that they don't have to deal with this. But if they do, I think it'll be fine.
How do you talk to them about it?
I say there's a kidney disease that runs in your family. Your grandmother and your father both had kidney transplants. Your father's transplant was way easier than your grandmother's. And if you find out that you have this disease, and you need a kidney transplant at some point, it'll be way easier for you. And it's just not that big a deal. That's what I tell them. Because it's honestly true.
So ultimately having children was more important to you than having children who didn't have polycystic kidney disease.
Having my husband's children. I went to quite a bit of effort to find this wonderful man. I wanted to reproduce with him, as an expression of our love for each other. There are many ways of having a family, but that's what I wanted. They told me I could use donor eggs, and they'd make lots of embryos, and they could screen them. They could use my husband's sperm and I could have my husband's child without passing on this disease. Why didn't I take that? Why was that not acceptable? My husband and I wanted, if possible, to have babies together. And given his complete indifference to doing any screening for this disease, there was only so far I was willing to go with it.
I have to say, this essay really made me think.
So often in discussions about genetic technologies, people focus on really severe genetic disorders that are untreatable and cause early death, lots of pain, horrible conditions. Or people talk about trivial concerns like hair colour or eye colour. But there's a whole world of things in between, and I would say this one is an interesting one for that reason. This disease straddles a line in my mind. Because, on the one hand, it's a treatable adult-onset disorder. On the other hand, a kidney transplant and lifelong immunosuppression is not nothing. So, like, how far will a person go to avoid this?
You title the essay "My Eugenics Project." Why use that word?
You have to ask the question, 'What is eugenics?' It's a word that comes with a lot of associations. And so when people refer to eugenics, they often don't say what aspects of it they are referencing. Was I investigating me and my partner's inheritable traits to try to, you know, better the next generation? I mean, of course! That's obviously what we were doing!
But eugenics as it was practiced in the United States came with a lot of other stuff, too. In the early 20th century, it came with class and race prejudices, it came with coercion, with forced sterilization, it came with really absurd scientific justifications. And so some people would say, well, you know, you were trying to avoid passing on a gene, but that's not eugenics, because it doesn't involve all of these other things that are bad, that are why it's bad.
But let's be really honest, okay? Let's look really closely at this. Coercion. No, it's not like court-ordered sterilization. But my husband was kind of being coerced by me. My husband was not enthusiastic about this. So there was an element of coercion involved. And, you know, class and class prejudices. It's not, you know, so-called 'eugenicists' looking at poor people and claiming that they have an inherited predestination to being poor. It's not that, but it's a rich person pursuing all kinds of medical treatment that's not available to poor people in this country. Discrimination. It's not testimony in Congress saying that unless you're Northern European, you're somehow genetically deficient and shouldn't be allowed to immigrate to this country. It's not that, but is it being discriminatory against people with polycystic kidney disease, which is a treatable disease?
These are tough questions. And I don't think anybody is served by only examining extremes.
This interview has been edited and condensed.
Nell Greenfieldboyce. "My Eugenics Project," in Transient and Strange: Notes on the Science of Life. 2024.