This week, we bring you two stories about times when family and science intersect.
Part 1: Biochemist Katie Wu is lactose intolerant, but her mother won't believe her.
Katherine (Katie) Wu is a graduate student at Harvard University. Currently, she is studying how bacteria handle stressful situations so that she can someday learn to do the same. Outside of the lab, she is Co-Director of Harvard Science in the News, a graduate student organization that trains aspiring scientists to better communicate with the general public through free public lectures, online blogs, podcasts, outreach programming, and more. Additionally, she designs and teaches health science and leadership curriculum for HPREP, an outreach program for underserved and minority high school students from the Greater Boston area.
Part 2: Neuroscientist Oliver Vikbladh and his family look for answers about his sister's mysterious disability.
Oliver Vikbladh, originally from Sweden, is currently a 5th year PhD candidate at New York University’s Center for Neural Science. His thesis work explores how the human brain uses memories from the past to make decisions about the future. Outside of his research, Oliver is interested in communicating science to a wider public. He has written book and theatre reviews for Science Magazine and been part of creating a virtual reality experience about how the brain represents space.
Part 1: Katherine (Katie) Wu
For a few months in college, I subsisted almost entirely on cereal, not out of necessity but out of obsession. Most nights I would sit down for dinner in my dining hall with three bowls in front of me. For my appetizer, fiber-rich Raisin Bran, which, as far as I was concerned, was basically salad. Multigrain Cheerios for my main course and Frosted Mini-Wheats for dessert.
One night, after a particularly brutal physics midterm, I staggered into my dining hall with only one thought on my mind: Oatmeal Squares. So I poured myself some cereal and I headed over to the fridge for my cereal accompaniment of choice – almond milk.
That’s when disaster struck. The almond milk was empty. Okay. This sucked, but it was going to be okay. I would have soy milk. Soy milk is great. But, of course, that was empty too. As was the rice milk and the coconut milk and, even impossibly, this beany-tasting jar of hemp milk that I could have sworn had been in that fridge since freshman orientation. In fact, the only thing left in the entire milk section was this half-empty carton of skim cow’s milk.
I was horrified. My life in a series of Kellogg’s cereal boxes flashed before my eyes. In that moment, as I was staring at this carton of skim milk, my panicked thoughts started to drift towards my mother. No, not because of some twisted milk-driven, Freudian impulse thing but because I’m lactose intolerant.
And I’m not alone here. About 75 percent of the world’s population actually can’t digest lactose after they're about two years old, around the age of weaning. But even if you can’t digest lactose, that doesn’t necessarily mean you're lactose intolerant. Only some people have that adverse reaction.
So what can happen is this. If lactose sits undigested in your colon, it can start to draw water into your gut and you get diarrhea. If you're super lucky, you'll also have certain populations of bacteria in your gut that can ferment that lactose and create a ton of rancid gas and nausea. It’s pretty great.
So science tells us that lactose intolerance is kind of, definitely, a thing, but my mother, my mother believes that lactose intolerance is more a state of mind.
So I’m my mother’s only child and I grew up way too fast for her liking. Every developmental milestone from my first bite of solid food to my first successful parallel park was a traumatic event for her. She desperately resisted my independence. To her, me growing up was me growing away.
The day I left for college, she sat me down and started talking to me about her friend’s son. We’ll call him Allen.
She said, “Allen is such a good boy. When he moved out, he cried for two weeks and now he calls his mother every day twice.”
I resisted the urge to ask her if this kid still drinks directly from his mother’s breast or if she shipped the milk out to him on cold packs?
So, growing up, I was just so embarrassed every time someone commented on how much I looked or acted like my mother, but she ate that shit up. One day when I was nine, she came home carrying these two massive, hideous, matching pink dresses for us to wear to a wedding. In an attempt to reason with her, I hid in the closet in my underwear, plugged my ears and screamed bloody murder until she let me put on different clothes.
As hard as she fought to keep me close, I fought twice as hard to run away. Though, in her ideal world, I’m pretty sure I would still be on the other end of a twenty-five-year-old umbilical cord.
So maybe it’s not shocking that my mom doesn’t drink the dairy-free Kool-Aid. To her, lactose intolerance is a figment of the imagination or a millennial myth, like depression or a liberal arts education or interracial marriage. She has this really bad history of sneaking cream into my coffee and wedging cheese into my sandwiches. She likes to tell me that all the pain and discomfort and bloating and nausea I experience during these events are all in my head.
Anyway, I’m standing here in this barren wasteland where nondairy milk goes to die, confronted with this impossible choice. I know that the reasonable thing to do is just to find something else to eat, but I'd been looking forward to my Oatmeal Squares all day and, at this point, to go without them is a fate worse than death.
I’m locked in this staring contest with this half empty carton of skim milk and, all of a sudden, I’m Alice down the rabbit hole and the milk in front of me is saying, “Drink me.”
Maybe it’s my stomach talking, but I start to wonder if my mother is, for once, actually right and it is all in my head. Because I haven't had dairy in like eleven years and it is technically possible for lactose intolerance to wax and wane.
I look down at my Oatmeal Squares and, in that moment, I decide to fight, to be brave. I will not go gentle into that good night. I crack open the carton of skim milk.
Twenty minutes later, it is no longer all in my head. Instead, it is all over my clothes, all over my floor, and all over the second-floor women’s restroom. In that moment, I have two thoughts. My first is that whoever first looked at a cow, considered its leaky, drooping udders, and thought it was the right decision to suck the liquid from its fleshy, pink undersides had to have been the biggest idiot in the entire world.
My second is of nauseated vindication. Nothing has changed. I’m still pretty damn lactose intolerant. If anything, the years off dairy has made my body more sensitive to it and it’s punishing me for breaking fast.
Here’s the frustrating thing. My mother could have watched this entire ordeal unfold and she still probably wouldn’t have believed me. All this in spite of the fact that, as someone who grudgingly cohabitated with her for eighteen years, I can tell you that she and I both know that she too gets a little tooty after ice cream.
That’s the thing. Biology tells us that we’re all a little more our mothers than our fathers. We exist inside our mothers’ bodies, emerge into the world through our mothers, even get our first gut and microbes from our mothers, the same microbes that can go on to determine whether or not we put cream cheese on our bagels.
What’s more, there's actually some DNA that we only get from our mothers. Most of our DNA is in the nucleus. That’s where our chromosomes are, but there's also some in the mitochondria, which you may remember from middle school biology as the powerhouse of the cell.
Maternal mitochondrial DNA is lost during fertilization so the inheritance of this stuff is entirely matrilineal. In reality, mitochondrial DNA is just like 0.1 percent of our genetic code. It’s actually kind of surprising this stuff is still around at all because it’s a lot of work for the cell to remain two separate sets of DNA. Mitochondrial DNA should have been lost to the ether long ago.
Nevertheless, she persisted. Mitochondrial DNA is still passed on, stable and intact, generation to generation, mother to child.
In my quest to break free of my mother, I lost sight of who she really was. The same woman who had scoffed at my gastrointestinal distress and denied me the luxury of a bra through the end of middle school was the same woman who indulged my voracious love for reading and bought me every book I could have ever wanted. The same woman who, knowing I don't have a lot of time to shop for groceries, once tried to ship me a pound of grapes in a FedEx envelope, who drove in socks and flip-flops six hours just to have dinner with me the night of my college graduation.
Who, on nights when I woke up screaming, would crawl into bed with me and let me curl up on her chest and, when I grew too big to fit there, with my head resting on the left side of her body so I could just hear the sound of her beating heart. It was the closest thing I ever had to a lullaby.
My mother, fueled by her often misguided but always unconditional love, is an inextricable part of me. And when I remember this, I don't have to look far to see her in myself. I have her stocky build, I have her lopsided smile, I have her lactose intolerance for better or for worse. I have her pride, though I know sometimes she wishes I would give that one back.
In every cell in my body there's a small unfathomable piece that is entirely my mother: stubborn, unbroken, eternal.
Part 2: Oliver Vikbladh
I'd like to dedicate this story to my grandfather, Alf who actually passed away a few months ago.
So in my research as a PhD student in neuroscience, I investigate how memories from the past influence your decisions. And that’s something I thought a lot about, and still, when people used to ask me if I became a neuroscientist, if I got into neuroscience because of my sister. The answer was clear, no. But after what happened, after these series of very improbable events where everything somehow came full circle, I’m just not that certain any longer.
If I’m sure of anything, though, it’s that sometimes, a single event can change everything. In the case of my family, this event was tiny. I mean, it was miniscule. It was literally so small that it couldn’t be perceived with the naked human eye. It occurred at the microscopic scale of a single molecule and it happened with a probability so slim that it approached nothing. And still, the effects of this one, single, random event still echo today in the life of my family.
Of course, we didn’t know this at the time. It was 2012 and I was home on the southern coast of Sweden. I was about to begin my PhD studies in New York.
One day, around this time, as my grandfather, Alf, he was filling up the food basket at a local supermarket, he spots my sister across the store. And weirdly enough, she's sitting in a wheelchair. My sister, she has limited mobility, sure, but she's never been in a wheelchair so he's confused.
But the thing about my grandfather was that he was just the most affable, almost pathologically cheerful person you could possibly imagine, so he just goes for it. He just approaches her and he just goes in for the hug.
So he bends down and he's just a few inches from my sister’s face when, suddenly, he recoils in shock. Something is terribly wrong. This is not my sister. This is not Vera. Instead, it’s some other girl who looks almost identical to her. I mean, this girl and my sister look like siblings no less than me and my sister do.
People have always said that me and my sister, we look a lot alike, and when we were kids, we spent a lot of time together. We did many things. She used to go absolutely crazy when I pretended I would bite her feet. I just drove her crazy with laughter. And I don't know how many hours we spent together in the backseat of the family Volvo holding hands while listening to music.
The thing about Vera is that when she is in a good mood, she's just incredible to be with. And anyone who’s met her will attest to that. I don't know. Somehow, she just always seems to find a way into people’s hearts regardless of who it is.
And she loves life. She loves to do many things. She loves to go swimming, she loves to go horseback riding, she loves to dance to cheesy music. But unfortunately, she's dependent in other people to do most of those things. In fact, she's dependent on other people to do almost anything, especially when she was small. She couldn’t be left alone for not even a single minute.
I mean, she was only five years old the first time she could be left alone in her room, and it was all thanks to this VHS tape we had that contained a recording of a local circus. There was something about that kind of manic music, the colors, and the acrobats that really kind of captured her attention.
I remember the day that that tape broke very clearly because I came home from school to find my mother in tears in the kitchen with mascara running down her cheeks. She was scared because before that tape and the moments of reprieve that it offered our family, Vera’s condition had often brought my parents to the edge of exhaustion. I even remember my dad calling the TV network and production company to try and get a copy of the tape.
I don't think they got one in the end, but instead my parents just bought this huge collection of circus tapes that we kind of played on a rotating schedule in our house. So when you walked past the room, a lot of time you'd hear this kind of like weird upbeat polka music. I think it’s fair to say that if my family had a soundtrack then circus music was certainly on that playlist. I don't know.
To some of you, the idea of crying over a broken VHS tape may sound ridiculous, but if you ever cared for a child with a disability, I think you know how incredibly difficult it can be sometimes. And in all fairness, it wasn’t for me that it was very painful. I think that’s mostly because my parents did a lot to shield me from the most burdensome aspects.
And besides, Vera, she was the only sibling I'd ever had. I didn’t know anything else. She was my baby sister. She's three years younger than me. It wasn’t really until many years later when I was older that I started to realize the uniqueness of my experience. For my parents, however, the arrival of my sister and the realization that something was wrong had meant no small, shall we say, readjustment of expectations.
It was interesting times. But the thing is that…
I’m sorry. I’m sorry it makes me a little bit emotional.
The thing is that one of the hardest things for our family, I think, is that we had never really found out what was wrong with her. The doctors, they had theories. One was that something had happened at birth, that there was some lack of oxygen and that her brain had been damaged because of it. Others say it was some sort of rare cause of autism. But ultimately, nothing was substantiated.
I think when the doctors couldn’t provide any answer, my parents thought of looking for someone who did, perhaps desperately. My parents and I, often we would go around the country to these different experts. Herbal therapists and speech therapists and osteopaths and chiropractors and even some kooky homeopaths. I’m not going to say that none of that worked, but, if it did, it didn’t change anything fundamental. And time passed, and after years of worrying and wondering and wrestling to find some answers, or maybe some solutions, I think that acceptance finally arrived in our house. We found ways to manage and it actually got easier. It did get better.
But the cause of my sister’s mysterious illness remained unknown, until that day in the local supermarket when my grandfather bends down to hug what he thinks is my sister.
So it turned out that the woman driving the wheelchair was the girl’s mother. And when my grandfather explained his misunderstanding to her, she told him that her daughter had very recently been diagnosed with a rare developmental disorder, a genetic disorder that had only been identified five years earlier. The name of it was Pitt-Hopkins Syndrome.
Just to give you some perspective, there are 20,000 genes in the human genome. Pitt-Hopkins Syndrome comes about from a mutation from one out of those 20,000 genes. That’s it. It’s called a random mutation. It doesn’t really have any known causes.
And this mutation is rare, exceedingly rare. At the time, this girl that my grandfather met, she was one of 200 children in the world, and there's only a few hundred more now. What you can learn from studying these children was that the TCF4 gene was absolutely necessary for the brain to develop in the way it was supposed to. And if it was damaged, as it was in these children, what followed was developmental delay, lack of speech, and distinct facial features. In other words, it sounded a lot like my sister. My sister had Pitt-Hopkins Syndrome.
By the time we got the results, I had actually already begun my PhD at NYU and I was sitting in my office in Washington Square. I remember getting this email very vividly. It was an amazing feeling. I mean, really, my grandfather had just accidentally stumbled on what had been our lives’ defining mystery. This thing that had been around for so long now had a name and it had a cause.
So in this email, my mother had attached a link to a newly founded foundation the Pitt-Hopkins Research Foundation. It had been founded by parents of some of these children. The goal of this organization was to raise money and fund research into the disorder and possible treatments. I was sitting there and I began reading about their work, which today, incredibly and thanks largely to these parents who’ve spent so much time doing this, this has today blossomed into what’s really a burgeoning research field. We’re actually starting to understand this disorder. The blanks are being filled in as we speak.
What’s still unknown is whether a treatment is possible and how long that would take to develop. But what’s certain is that there is now hope where none was before. By that, I’m not implying by hope that hope is in any way uncomplicated, because I think you can derive strength both from acceptance and from hope. And I think anyone who finds himself in this kind of situation will discover that struggle between, on one hand, acceptance of the situation that you're in and, on the other hand, hope that things will someday change. And they'll discover the difficulty of finding a balance between those two things that make sense in a situation that sometimes just seems crazy and impossible.
But regardless of all that, because of biomedical science, these parents of these children don’t have to be left in the darkness any longer like my parents were. It’s not going to be easy, it never is, but at least they won’t be alone.
So I was sitting there in my office reading this email for the very first time and eventually I come across the scientific advisory committee. These are three scientists charged with deciding where the funds go in this foundation. I look at the list and I just had to look again. I absolutely couldn’t believe it.
At the very top of that list is Professor Eric Klann at NYU. I knew him. In fact, he was sitting in the building I was in at that very moment. Somehow, I had ended up thousands of miles from home, three floors down from the person charged with figuring out my sister’s condition.
So today, when people ask me did I go into neuroscience because of my sister, I say maybe. Not because it was ever explicitly or consciously about her. It wasn’t about studying her or making her better but the way that everything somehow folded back on itself, the way that things came full circle. It’s very difficult for me to believe that my experiences with her didn’t influence my decisions. I don’t think I would be here if it weren’t for that one single event that occurred at the microscopic scale of a single molecule. Sometimes, a single event does change everything.