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A Genetic Illness So Rare Only One Family Carries It

Mar 15 2017 4:50 PM
A Genetic Illness So Rare Only One Family Carries It

Photo courtesy of Joselin Linder

For five generations, members of writer Joselin Linder's family suffered from strange symptoms. Now, doctors have finally isolated the genetic variant that caused her father's and uncle's deaths, leaving Linder aware of her own mortality and unwilling to pass on the disease.

This is not Joselin Linder's first time at the rodeo: She is a reporter for the New York Post, has written books about games, gaming, and gamification, and is the author of such humorous hybrids as The Stoned Family Robinson (like The Swiss Family Robinson, but with weed). But Linder has never written anything like her new book, The Family Gene—a memoir that delves into her family's fight with a nameless illness caused by a genetic variant many of them share.

The gene can be traced back to Linder's great-grandmother, an extremely rare occurrence, as genetic variants that cause illnesses (like that which causes cystic fibrosis) are usually dozens or hundreds of generations old. Linder's father died because of the gene's effect on his body, as did her uncle. As it was passed on from generation to generation—it is now in its fifth—various family members got sick in ways that, at first, no one knew how to put together: There was swelling of limbs, the gathering of lymphatic fluid in the lungs, and one family member had a stroke. But during Linder's lifetime, doctors were able to trace the illness to a specific genetic mutation that doctors believe exists only in her family.

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Linder knows that she may be a ticking time bomb, and that awareness underscores her work here. She isn't allowed to vomit or cough, for example, because some of her veins are so weak that if she were to violently work her throat muscles, she could, she's been told, bleed out through her mouth. She also has what became the tell-tale sign of the disease (swelling in her legs) and the heart murmur doctors have agreed is the indication of having the gene in this family. Otherwise, though, she's relatively healthy-seeming. She works, walks her huge dogs, and leads a comfortable life—she's just, unlike most of us, extremely aware of how close death always is. Linder, her sister, and most of the other members of the fifth generation are also in agreement when it comes to passing on the gene: They don't want to do it. I sat down with her to discuss her book, her writing, and her somewhat frightening life.

Image courtesy of HarperCollins

BROADLY: Why did you decide to write The Family Gene?
Joselin Linder: Initially, to be perfectly honest, I didn't have a concept that was an interesting story. It very much came down to: It was just my life. I kept journals when I was a kid, and when I got older I was really cynical. I didn't know if it would be interesting to anyone. But I had a friend, who was like, how did you father die? And I was like, well, we don't really know. This is sort of what we know. She started to talk to me about what the story could be. When we found out my sister was sick, it started to feel easier to move forward. When it's in yourself, it feels like you're asking for help, and it feels weak. When she was sick, it's like OK, everyone rally and do something about this.

You had already been working with all these doctors—Dr. Christine Seidman in particular—to figure out your illness, but there must have still been research that went into doing the book when you decided to write the story and not just live it. What was that process like for you?
Had this been 20 years ago, I would have been driving myself to the National Institute of Health and begging for family files. But the Seidman lab [a research lab run by Dr. Seidman and her husband] already had all this information in these beautiful binders. Everything is divided: There is a section for Mae, my great grandmother; a section for her son; my dad's section. When I wanted my uncle's information, my aunt Ellen sent me his autopsy report and some of his medical files, and then she would read me some stuff over the phone. And Dr. Seidman was amazing. She brought me into Boston and did a PowerPoint presentation, and that was like, OK—I know how the book ends.

You manage to convey a lot of medical language and terminology really simply, stitching things together well for the narrative. Was that you translating the medical jargon, or did your doctors explain things in this really visual way?
Dr. Seidman gave me this amazing explanation of the lymphatic system. She described it as the three little pigs: The veins are the wood, and the lymph is the straw, the weakest and the flimsiest. Other things I looked up and was really determined to understand. I really [didn't] want this to be boring science. I don't want to just say, [Dr. Seidman's intern] looked for the gene. I wanted to say what is she looking at. Or like when [chemist and crystallographer] Rosalind Franklin took a picture of DNA—I was like, what do you mean, it's this tiny thing! And then I learned [she photographed DNA's] shadows and these mathematicians had to look at a shadow on the wall and use math to go backwards to learn what makes the shape. It blew my mind.

Linder's father. Photo courtesy of Joselin Linder

There's a lot of intimate stuff in the book along with the medical information: your father's illness and death, your boyfriend Jeromy's suicide. Was that hard?
I'm a little bit of a sociopath. My sister is really emotional, and when my dad was sick, I was the one who could talk about it with a lot of poise. I was able to repeat what doctors said in a way that was very non-emotional. I think that was why he relied on me a lot. When I read it now, it's really hard, and what sucks about writing a book is that they make you read it 70 times. So I think I wrote it a little bit like this, with my eyes closed.

The stuff about Jeromy, that was such a turn in my life. [With] my dad's death, the turn was really gradual because he was sick for so long. With Jeromy, it was this hard left, and nothing made sense. Everything was different really quickly. I sort of mentioned [the book] to [Jeromy's] mom, but it does feel weird telling someone else's story. And with his story, I have anger, I still am kind of pissed about all of it. But I'm less angry. Now I understand that this is a person who tried everything and nothing worked. This was the answer that he found worked.

Having found this person, Jeromy, at that time, when my father was really sick—I was trying to make sense of this seemingly inevitable death that was coming—to meet this guy right then who was just so in tune with his spirituality in that direction was fortunate in many ways. He understood death and was not afraid of it; he felt good about it, that we are committed to nothing and life is much simpler than we think. These are thoughts I never had.

Do you think about life differently because you have this concrete knowledge of death, because of your medical conditions?
My sister and I have both talked about this. We have a constant awareness that life doesn't last forever and it gives a weight to certain things. My husband and I bicker, we fight, but a lot of the time, my brain will be like—this could just be it right now. It puts a different emphasis on the fight. We still fight, but when he laughs something off, I used to get really mad, and now I laugh, too. He has tons of road rage, and I don't anymore. It's personality, too, but some of it comes down to having this low-grade awareness of my mortality. It's sometimes positive. When a friend needs something, I take it really seriously; I've been told I'm a good friend because I show up and I know it's because I realize that matters more than a thousand other things I might rather do. But on the other hand—panic attacks.

Joselin Linder. Photo by Aaron Fanin courtesy of HarperCollins

Something that kept occurring to me when reading the book: only your family has this gene. The idea is not to pass it on to the sixth generation. Your family is one of the only founder families of an illness—you know who the founder is. Is there anything at all bizarrely sad or sentimental about the idea of this gene dying out?
No—it was such an awful thing to watch with my father [die], and it has been so difficult in my life. I used to think, what is it also doing? What in it helps make me me? It's there, but—I don't want this gene around. I feel so lucky that we have this opportunity to weed it out of existence. If you have cystic fibrosis, you're one of hundreds of thousands [of people] who having this genetic variant—how do you talk all of them out of not passing it on?

Through IVF or prenatal screening, you mean?
Maybe down the road, when these programs are bigger and easier and much more accessible, everyone will do it, whatever it takes to weed out the gene, like not have children. Up until recently you didn't know if you carried cystic fibrosis. Would you not have the baby [if you knew]? I'm sure some people would not risk it. The fact that we have the opportunity to get rid of our gene—I feel so amazing about it.

Do you worry about the ethics of this kind of weeding out, through IVF or screening?
Personally, I don't. The arguments are straw-man arguments, like, "What if your dad had never been born?" Humans are not the greatest of ethical animals, but we don't want children as sick or worse than we are. If we can, we can stop that.

It's certainly an interesting conversation. In Far from the Tree, which I talk about in my book, Andrew Solomon looks at the idea of [weeding] out deafness. Deafness has a whole thriving culture, and people who are deaf certainly don't think they are in any way impaired. This gene is not like that. Does [my story] open that barn door ? Yes and no. No, because I'm not talking about weeding out deafness.

If I got pregnant and was too pregnant to terminate a pregnancy and [found out] the baby had the gene, I would just have the baby. It would be too hard for me not to. So yes, we could fail, but I think we have the opportunity [to stop the gene], and I am so proud of us. [The gene is] not like deafness or Down Syndrome. It's not the same.

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How do you feel about the book now that it's done?
I'm mostly hopeful. When you have a rare disease, getting resources and attention is difficult. And now we know [the gene targets] the portal vein [in the liver], and it's super popular for people to study. There's an episode of Grey's Anatomy where they were trying to do a printing of the vein. People are just starting to realize that [my family] is super healthy, and we have one thing wrong. No one knew before why your liver fails, if you knew what was going on with that. And now we know there's a pressure issue with the portal vein. We didn't know before that our livers pumped, like a heartbeat. With us, these 14 people, we have some proof that the liver pumps!

The things we're going to learn because we can read genes are going to change everything. I really believe that we're on the precipice of something really cool.

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