Anomaly: Stories about rare diseases

It's almost unbelievable that a change in something as small as a cell or a gene can lead to such big consequences. In this week’s episode, our stories are about rare childhood illnesses from different perspectives.

Part 1: As a kid, Lauren Soares can’t understand why her parents are making such a big deal out her brain tumor.

Lauren Soares is an artist and musician based in Brooklyn, New York. Lauren creates ethereal dark pop music under her artist name, laur. She recently directed and produced a music video for her new single 'hades' and is gearing up to release her debut album in the fall of 2022. While not working on art, Lauren directs her energy toward helping artists and organizations achieve their business goals through digital media, storytelling, and strategic planning. She has a BFA in Fine Arts and Writing.

Part 2: Gerry Downes sees his research in a new light when his daughter is diagnosed with a rare genetic disease.

Gerry Downes is an Associate Professor in Biology at the University of Massachusetts Amherst. He received a BS in Biology from Johnson C Smith University, a PhD in Neuroscience from Washington University, and postdoctoral training from the University of Pennsylvania. His laboratory studies tiny fish to investigate how genes and brains control movement. He is passionate about science teaching and outreach, as well as shifting perceptions on who can be a scientist.

Episode Transcript

Part 1

I was 12 and I was vomiting at summer camp. This was after a week of excruciating headaches to which the counselors told me to drink more water. It was also the first year that I was able to go to two weeks of summer camp instead of one, so I was really bummed to go home.

But I'm an eternal optimist so, as I walked around my neighborhood to get fresh air, I thought, “I'm getting better. This is fine. I'm going to get better. I'm going to go back to camp. It's going to be fine.”

That night when I went inside for dinner, I started seeing double.

Now, my dad's an ophthalmologist and he was coming home from a really tough day. So when I said, “Dad, I'm seeing double,” he said, “No, you're not. Drink some water. Come to the dinner table.”

And I was like, “Dad, there's two dinner tables.”

So he got out his home equipment, he looked in my eyes and he saw a fourth cranial nerve damage.

I reached out to him for this story and I said, “Hey, Dad, can you give me a simple explanation for what fourth cranial nerve damage is?”

And he said, “Yes, of course,” and proceeded to write me five paragraphs of medical text, which I have distilled through my artist's mind into the following facts, which are there are 12 cranial nerves in the brain. they are all very important. Four of them relate to the eyes and the fourth actually has the longest path through the brain from the middle of the brain to the front so it can be damaged quite easily.

When there's pressure in the brain, because we have a skull there's nowhere for the brain to go. So it can hit up against a nerve and cause damage, which can lead to things like headaches and double vision. It's not a good sign.

So I went to the hospital. This was a Friday. They ran a bunch of tests on me. First, they told me that I would have to get this big needle in my back to relieve the pressure. Then they put me in my own room for the night, so things were getting serious.

I was mostly upset because I was missing my sleepover with my friend Libby. First, they take me out of summer camp and, now, I can't even enjoy life in my own town.

Lauren Soares shares her story at (Le) Poisson Rouge in New York City in March 2020. Photo by Zhen Qin.

So I'm in my room and there's a lot of talk going on outside the room, not with me. My parents come in and the energy has really shifted. It's really intense. They're looking at me a lot and they tell me that I have a brain tumor.

I don't really know how to process that, but I remember my dad sitting next to my hospital bed and he's just crumbling into tears. He's blubbering and crying so much that I start calling him a guppy. I'm like, “Dad, you're being such a guppy. You just won't stop crying. I don't know what to do with you.”

And my mom, she was a little more serious. At the time, I believed in heaven. I believed in God. And I said to my mom, “It's okay, Mom. Everything happens for a reason.”

And she snapped back. She said, “No. Sometimes things just suck.”

I didn't really want to hear that, you know. I didn't really have any control over what was happening and I wanted things to be okay.

Things kept happening around me. At some point, my parents came to me and they said, “Pick anywhere in the world and we'll go.”

I was like, “Oh, my God. Where are places in the world?” Like failing geography all over again. I thought of Italy and I was like, “I'm too young to enjoy Italy.” So I picked the place that was most accessible and exciting in my mind, which was Disney World.

I was like, “Great, I'm going to Disney World. It's all good.”

They sent me home that weekend on drugs to help with the symptoms, the double vision and headaches and all. And the drugs like fucked me up emotionally.

My mom found me in the corner of the room in a ball on the floor sobbing. I was just so emotional, so unstable. And I asked her, I'm like, “What is this?”

And she's like, “It's drugs.” Like, okay.

So that weekend was kind of a blur. And then on Monday, we went back to the hospital and I met Dr. Duhaime who's a neurosurgeon who would become my surgeon. She told me that my tumor was the size of a jelly bean. That there was no way to tell if it had recently grown or had always been there and, as I grew, became a problem. But that it was blocking my ventricle. And by blocking my ventricle, the fluid couldn't move through my body which is creating the pressure that caused the headaches and the double vision.

In the olden days, it would lead to my swift death. But she told me that there was a solution and that she could, through surgery, put a shunt in my body, which is a tube that goes through the ventricle down my neck in front of my chest and into my abdomen to relieve the pressure.

She also told me that I would have a box, a control box in my head so that if they needed to relieve the pressure, they could stick a long big needle in there, super fun, to handle that.

I was also told that I’d have part of my head shaved and that I wouldn't be able to eat for a really long time.

In that long time that I wasn't eating, I had one concern. I told all the nurses that as soon as I woke up, I would like pizza. They laughed at me and they said, “Okay, you're not really going to want that.”

I was like, “I know what I want. It is pizza and it is right when I wake up. Okay? Thank you.”

So I went into surgery. My mom brought my teddy bear. I was like, “Mom,” I was like, “thank you. I will take that.”

And I went under into the time space zone of anesthesia and I woke up. The surgery was successful. I had this crazy bandage on my head and, surprise, I couldn't sit up or walk. Because when they put the shunt in my brain and down my neck and in front of my chest and into my abdomen, they actually cut me open and moved around my muscles so I wouldn't be able to walk for a few weeks. That was like surprising.

And the first words out of my mouth were, “I want pizza.” I also ate ice cream. And from then on, I continued on with my life. I went home. I recovered. Took a few weeks. I went back to school and went on with my life as a normal kid, with the exception that I had to get frequent MRIs to make sure the tumor wasn't growing. This happened throughout my life up until about year ten where the tumor had essentially declared itself as not growing or just chilling.

It was about that time where my mom, we were sitting at their house in Vermont, and she told me for the first time that that Friday that we had went into the hospital, a doctor had pulled her and my dad aside and told them that I had less than a year to live. Everything clicked for me at that moment. Before then, it was just a weird box in my head and, sometimes, when I'd make out with new people, they'd feel it and it'd be awkward. And I'd be like, “My head is just a little weird. It's weirdly shaped. It's just this box for my brain tumor. We don't have to go into all of it. We don't have to get this close. It's okay.”

But at that point, I understood something. I understood that when I was worried about my sleepover with my friend Libby, that my parents were thinking that I had less than a year to live. And when I was crying at home in this emotional turmoil from the drugs, my parents were not sleeping thinking that I was going to die. Disney World made a lot more sense.

My mom told me that it had changed the entire way that they had parented me and looked at me throughout my life. I still think they could have been a little less strict, to be honest. I'm still alive, guys.

But I think at the heart of the matter, what it really boils down to for me is what it means to appreciate life. I see it both in the acute awareness that my parents had as they observed me and knew that I may not be on earth for this long and I also see it in the innocence of myself as a child, mourning summer camp and wanting a piece of pizza.

So I'll leave you with this because it still makes my parents laugh to this day. When they were wheeling me out of the hospital, I saw a boy with a broken leg. And I said to my parents, “Gosh, that's so horrible. I feel so bad for this kid. I'm so glad I don't have a broken leg. I'm so glad it's only a brain tumor.”

Thank you.

Part 2

Like most scientists, I really enjoy solving puzzles. Although, I'm a little obsessed with Wordle, by far, my favorite puzzles to solve are biological ones.

I'm a neuroscientist and my lab performs research using zebrafish. Zebrafish are a popular model system that you can think about like an aquatic mouse or an aquatic fruit fly. In one line of experiments, we studied this line of fish that perform hyperactive, uncoordinated swimming due to mutation of an unknown gene. So that's a biological puzzle. What gene is mutated that gives rise to this abnormal fish‑swimming?

We found the identity of the gene. We figured out what gene was mutated and we looked to see what happens in people. We didn't perform the research in people. We just looked across. And when that gene is mutated in people, it causes epilepsy.

Gerry Downes shares his story at New City Brewery in Easthampton, MA in July 2022. Photo by Kimberly Vadelnieks and Ben Kalama.

So we can think about that weird fish‑swimming that I observed as kind of like a fish version of a seizure. So that was an interesting biological puzzle that I, along with my lab, was able to solve.

I should have, like a little reference, so you can go and look at the paper.

My daughter Mila was born in March 2016. Mila was and is perfect, to us at least. She has beautiful, milk chocolate‑colored skin. A little bit lighter than mine and it's decorated with several caramel‑colored birthmarks.

When Mila was born, I didn't think much about those birthmarks, but my wife Kimball, who's a pediatric ER doc had been thinking about those birthmarks quite a bit in fact, so much so that she talked to our pediatrician when Mila was three months old. And then when Mila was nine months old, the pediatrician finally agreed with Kimball that we should follow up to see what these birthmarks might mean.

We first went to a dermatologist and the dermatologist was helpful to get us to narrow down some options for what these birthmarks might mean. Next, we went to a neurologist. The neurologist carefully looked at the birthmarks and said that they're likely nothing but they could indicate that Mila has a genetic disorder called tuberous sclerosis complex or TSC.

So TSC is known as a neurocutaneous or a brain skin disorder but it affects other organs as well. About 80% of people with TSC have epilepsy.

So the neurologist designed a follow-up plan in which we would take Mila to go for a full‑body MRI scan. So we did that. The scan went smoothly. And sometime after, we got a letter from the insurance company that said that Mila was not authorized for a full‑body MRI scan, only a brain scan. So if Mila did not have TSC, we would have to pay.

How many times do you want to pay for something? We were really hoping to pay. And, honestly, at that point, I thought that we were going to pay. I thought Mila is developing great. These birthmarks don't seem like a big deal, so I pretty much thought that we would just pay and move on.

So on Friday, December 23rd, Kimball decided to call the neurologist's office to try to figure out what are the results from the MRI so that we could solve this insurance issue and then move through the Christmas weekend without this hanging over our head.

Kimball was at home. I was at work in my office. Kimball got in touch with the nurse and, afterwards, she called me in my office. She was crying. In between sobs, Kimball said, “Mila has it. She has TSC.”

It's hard for me to put into words how I felt at that moment. I was shocked. I felt nauseous. I was dizzy. Above all, I was just scared. I was scared what this would mean for our daughter and for our family.

I paced around my office. I cried. Finally, I decided I need to confront my fears. And so I sat down at my office computer and I Googled ‘tuberous sclerosis complex’. The results were overwhelming.

I read about the difficult, drug‑resistant, severe epilepsies that can form that can only be treated by removing parts of the brain in some cases. I saw pictures of the disfiguring tumors that form across the face that would take a private disorder and make it public to anybody that would look at Mila's sweet face. I read about that TSC has a high comorbidity with autism. I read about the intellectual disability, behavioral problems. I read about the lung problems, sometimes requiring lung transplants. Heart problems, kidney problems, it just didn't stop. It was devastating.

So I ran home to be with Kimball and the kids. We tried to keep it together because we didn't want Mila and her three‑year‑old brother Reece to watch their parents come undone. Kimball placed frantic phone call after frantic phone call into the neurologist's office because we wanted to actually speak with the neurologist and learn more about Mila's diagnosis.

Finally, Kimball got in touch with the neurologist. The neurologist was great. Very calming. She said that she would meet with us on Tuesday, so it would be after the Christmas weekend. She also told us that we should stay off the internet, not read about TSC. Too late.

So we had a tough Christmas weekend. Kimball and I would take turns taking space from the kids so that we could let our emotions out. I remember distinctly Kimball coming back into the room with her eyes red from crying and I'm pretty sure I often looked the same way.

So we had that meeting on Tuesday with a neurologist. We got so much out of that meeting. She told us that few TSC cases have all of the symptoms. She told us that there's this huge range in disease severities so that some people have TSC so mild it's not detected until adulthood or even old age.

Most importantly, we got hope. The neurologist told us that there's a large, excellent, active community of researchers studying TSC. So although treatment options are limited currently, there's great promise for the future for new treatment options. That really comforted me in a way that I didn't expect.

Mila's doing great, by the way. She's everything I could hope for. She's smart, sassy, kind, beautiful. And if you were to meet her, she would want you to know that she's mastered the monkey bars and riding her bike without the training wheels.

The Downes family. Photo courtesy of Gerry Downes.

We appreciate how lucky we are. Mila is amazing and she has the best big brother.

So my experience with TSC has shifted the research focus of my lab and it's deepened the motivation behind my work. I don't study TSC in my lab, not exactly, but I could.

Zebrafish are an excellent model system to study different human disorders, including epilepsy. In fact, the first part of the story I talked about working on an epilepsy gene in my own lab in zebrafish. So I have the resources and the expertise to work on TSC. In fact, I could make Mila’s mutation in zebrafish and I could study that. But that's a line I'm not willing to cross. I mean, what if I were to discover something awful about Mila’s mutation?

Instead, I'm studying a disorder called TBCK syndrome. TBCK syndrome is another awful neurogenetic disorder. It frequently causes epilepsy. It's typically lethal. There are no treatment options. It seems to disrupt the same biochemical pathway as TSC, so I like to think about it as being TSC adjacent and that feels like a nice space for me.

I've met several TBCK‑syndrome parents and I can understand how scared they must be. So I want for my work to be able to provide these parents and their sons and their daughters the kind of hope and comfort that I received from knowing that there are scientists working hard to solve this specific biological puzzle.

Thank you, guys, for listening.