Episode 27: Jill Viles

The following interview was conducted in-class, during the Spring 2024 session of Hidden Figures: Brain Science through Diversity, taught by Dr. Adema Ribic at the University of Virginia. What follows is an edited transcript of the interview, transcribed by Kaitlin Rose Sweeney, Alisha Meena Gursahaney, Brighid Elizabeth Albright, Vinee Verma, Alexis Jordan Theoret, Evan William Crowne, Jade Taylor, Alysha Mallory Johnson, Madina Faqirzai, Maria Karageorge, Sanjula Chitty, Skylar Meilin Dahl, Adam Motlak, Cammie Chapman Holmes and Zoe T. Walker, who also drafted Ms. Viles’ biography. The final editing was by Dr. Adema Ribic.

Penned the “DIY Scientist”, Mrs. Jill Viles stands as a remarkable figure who has astounded many scientists and health professionals through her exploration of genetic muscular diseases. Beginning her research as a college student, she achieved the extraordinary feat of not only diagnosing herself with a rare genetic disease known as Emery-Dreyfus muscular dystrophy, but also identifying the same condition in her father. Her relentless pursuit of knowledge led Viles to make another shocking discovery, uncovering a shared genetic mutation and another rare genetic disorder [known as partial lipodystrophy] with none other than Olympic medalist Priscilla Lopes-Schliep. Viles' story not only highlights her role as a trailblazer in patient-led research but also underscores the potential for individuals to impact scientific understanding and advocate for better patient care in the face of rare diseases.

Can you tell us about your childhood?

I was born and raised in Des Moines, Iowa, into a really incredible family. My mom stayed at home with us when we were little. She had five kids and I was the oldest one. My dad started out in private practice as an attorney, and then he went into a federal position (an assistant US attorney). I love so many things about my parents, they were fabulous in their own ways. I think my dad really instilled in us the value of education and working hard.

I had a very fun and playful childhood, even while having muscular dystrophy. It was cool, because the kids in my school, especially elementary school, were really kind to me. We'd be on the playground playing, and we just knew the rule was you couldn't Red-Rover me, because we'd get a new kid in the class and they'd look at our arms, and go running to the one that's gonna break the chain–and they'd hurt my arms. A couple of kids would walk off with the new kid and just be like We don’t Red-Rover her, so they always stuck up for me without making me feel really different.

How did having muscular dystrophy affect your life as a child? 

It was difficult having weak muscles. I think I realized (especially as an adult), how lucky I was overall, but the big things in life when you're really little are things like going to slumber parties or being strong enough. I could do some things, and my mom was great about helping to blend it in. If we had to walk to the park that was really difficult to walk very far, she’d say things like, I’ll bring Kool-aid, or I’ll bring whatever, so I’d ride in her car and I didn’t have to struggle to keep up with the other kids. However, even with MD, I loved school, I loved recess, I loved jumping rope, and I could do that almost as good as the other kids, but running was not possible. I could never cartwheel; I couldn’t get a basketball in a basketball hoop. I’ve had to modify PE, but I do remember loving school, loving learning, and I was always attached to writing. Creative writing stories were my favorite things, and I liked math in elementary school.

Where were you educated and what did you study? Were you always interested in science?

I went to public school in Des Moines, all the way through. I worked in the newspaper by junior year, and I wrote an article about summer opportunities. One of them was that you could start at Drake University if you had the right grades and certain standardized test scores. As I was writing the article, I thought, Well, I want to go do this, so I turned in my material to get accepted. Right after my junior year of high school, I enrolled in a biology class and I just loved it. It was fascinating, [there was a] really great professor that had been there a long, long time. That got me really interested in science, and then I wanted to go even further with science after that first year. I transferred to Iowa State’s genetics program, and that was about the time of my life that you think about your future, and I was at the point that I know I have a muscle disease. We don't even know the name or the type of it. I didn't know anything about what or how it was going to impact my life, and I felt really, really frustrated because it makes you sound not very knowledgeable.

How did you begin researching your condition?

[Not knowing anything about MD] made me feel stupid, so I wanted to read everything I could, and try to figure out what it was. When I was at Iowa State, I probably spent more time in the library than I spent in classes. and I would just read about all sorts of types of MD and then one day I looked up this rare type, Emery-Dreyfus, and it looked just like my dad. 

What happened after that? How did your family history impact the journey of discovering ED?

Many years later, a UK company that does genetic sequencing reached out to me and said, Well, would you like us to study the genetics of your MD? They were trying to figure out why we had 2 milder family members through a technique called whole exome sequencing; my dad was milder, and then my brother and I were more severe. So, they ran a study where they screened their whole genome, which was really difficult, but we were kind of the gold mine of the case family because there's 5 kids and an affected parent, so that, by statistical odds, led the search to be a little more reasonable. They found another mutation that was a gene that seemed to affect my brother and I. So, as it turns out, that's what was making us weaker.

How did you become interested in genetics?

I had so many questions, and I met my genetics professor in his office hours when I was at Drake. It's the only time I really cried and kind of broke down about things, because I was trying to explain why I wasn’t in the class, and he said, “if you went to Mayo they would tell you everything, and they'd know.” But even at the Mayo Clinic, they didn't know what I had. So, he came back the next week and gave me a little post-it note, and he said, “You know I'm also in a council at the hospital, and they have a genetics lab there” , and that he talked to a member who was a medical doctor. He asked if he’d be interested in having a student for the summer and he said he would. I was excited, because when you go to see a medical doctor, you go for around 30 min, you talk a little bit, and they say, “See you in a year.” You don't really learn genetics that way. I was paired with the medical doctor for the summer, and he even designed a project for me.

What role did friends/family play in supporting you through your medical journey growing up? 

My family was loving and supportive, but nobody else had a science background, and I could see I was kind of boring them to death when I would talk about it. You know, I was so excited when I had this idea that I might have something in common with Priscilla Lopes-Schliep, and everybody was trying to be polite and listen, but they didn't really get it at first. If you do science work, and nobody else in your family does, it can be difficult. But they sure came around later when we realized this was getting to be such a big story with Priscilla. 

One example of this was my aunt. She said [about Priscilla’s relationship with Ms. Viles], “This is a really fun story.” And I just love that because it is fun because it’s the last thing you’d ever expect. How could I have something in common with (an athlete like) Priscilla?  But our (genetic) variations are right next door to each other in the same gene. So whatever this specific genetic spot is, has so much to do with muscle development that you go one way or the other (depending on the variant).”

Can you describe the moment or series of events that led you to suspect that you and your family might have Emery-Dreyfus Muscular Dystrophy? 

I was doing an internship in Marine Land, Florida, which is really close to St. Augustine. There was another PhD student there and I would talk to him about MD. I would say “I’m curious about this and I think my family maybe has this”. He suggested we drive to Gainesville and go to the medical school. He checked out this huge, thick book on neurology. He then got some of my favorite snacks and brought it over to my dorm, which was next to the lab where we were. He told me “You’re checking in for the weekend with your Ritz crackers and a neurology textbook.” He told me to read it all, then tell him what I think I have. I remember I really did read it, at least the pictures, and a little bit about the description! I went through them and thought wow it’s Emery-Dreyfus. There’s a real symptom of ED that’s called the Popeye arm deformity. My dad had these really big muscular forearms and then smaller bicep, so I saw that, and I heard that name because it was one I’ve used (I used to think my dad had Popeye arms). That was probably the first moment that let me to suspect I had ED, despite my own arms being tiny. If you’ve ever seen a picture of me online, I’m like Chicken Little. 

What advice would you give to families who are dealing with trying to find a medical diagnosis for their child and how the family should best support them? 

You'll find, especially for rare diseases, there are Facebook groups and they're usually private groups that you can only get into if you or your child has a disease, or your friend, or spouse, or a close friend, etc. That would be my best advice is to reach out to people that are going through what you're going through and join a Facebook group if there is one, and if there isn't one you could start one. 

You already touched on this a little bit. Did you get involved in any undergraduate research labs in college and do you have any advice for college students looking to get involved in research?  

I can tell you where I worked. It was called the Human Gene Therapy Research Institute (it’s not there anymore). It was built into a part of Iowa Methodist Medical Center and they did a lot of cancer research. After that, I applied for different internships, and I got accepted to one in Whitney Research Lab. I spent the summer there in 1995, and it was awesome. I lived with the other students my age, the dormitory was right next to the lab and I actually realized that I didn’t want to pursue a career in research there. I would suggest if you’re going to do an internship, do more than one, do two, do three, try many different internships and make sure you really like it before you can get to a career.

Did you have a specific mentor or supporter in college that encouraged you to continue your research? 

It's Dr Thomas Horiagon, and he's a medical doctor. I grew up being examined and touched, all these symptoms written down on a clipboard about me but not getting the information I needed and not talking about it. A lot of my struggles have been more on the emotional side of things, like how is it going and how does my life work out? We've stayed in touch for 30 years just with email and he sent me a Christmas card and it was something like “I hope 2022 will be better”. I emailed him a few months after that, and then he finally explained he had cancer. My husband and I drove to Denver together to see him, and it meant the world to both of us because we haven't seen each other in 30 years and he'd been the one that supported me. As we left I said “Oh my gosh I want to see him again sometime” and my husband could tell he [Hoarigon] wasn’t going to make it and I started to cry because I couldn't accept that. It was only like 3 or 4 weeks after we got home that he passed away. That means so much when you know somebody looks out for you like that.

How did you come across that pivotal research study in Italy? 

This takes us back to when I was in Florida. I was friends with a graduate student, who drove me to Gainesville, and we spent all that time looking in the library. He was trying to get me to get more confident. I got some more articles I was reading about it[ Emery-Dreyfus], but it was so different from the speed of getting research information in 1995 compared to now. But it took me a really long time to try to go through the periodic guide to literature, find that, and then go to the library and find people who work on ED. It just was not quick. Because of my literature research, I thought these people [researchers in Italy] would know more about my condition.  I set up a timer on my camera, and I took pictures of my body and what it can and can’t do, like this is what my arms look like, I can't straighten them. This is how far I can bend my neck down, this is what my heels look like. I developed these pictures and sent them to the researchers in Italy, who confirmed I had Emery-Dreyfus.  

What motivated you to directly contact the researchers in Italy?

I was that sure. There is no other way to say that; all the symptoms, the pictures, I just knew I was right. I wish I could have been braver because there was a point where I could have found out about the connection with Priscilla Lopes-Schliep 12 years earlier. 

What gave you the persistence to keep advocating for your diagnoses, despite the neurologists leaving you with no answers?

The photographs of patients were identical to my father’s symptoms. There was no denying it—we knew it was the right diagnosis, and the cardiac traits associated with the condition were very severe. We had to get this right even though we had to go solo.

Do you have any advice for parents of children with similar conditions?

You probably have to collect more information and emphasize your needs before committing to a particular clinic setting or physician.

As a researcher without formal medical or scientific training, what were the primary obstacles you encountered in your research, and how did you overcome them?

Access to medical literature was problematic in the early years of my research. I had to access the Periodic Guide to Literature, and then search in the tiers of the library for journals they often didn’t have. It’s much easier now because you can access recent articles on your computer, but often there are exorbitant fees, even to “rent” the articles for a few hours. I do have a mentor in the academic field who sympathizes with my difficulty in obtaining articles on my rare disease, and this person accesses the information for me, and forwards it to my email. I would love to see the US government offer an access code to families diagnosed with rare diseases who want to pursue individualized medical literature pursuits without cost to them.

From your perspective, what are the key elements for successful collaboration between patients and scientists in advancing research on rare diseases? 

The most important thing is for patients to communicate with researchers in the language of the medical field. Sometime patients get really excited about something they read on-line, but if the discovery is not evidence-based and the results peer-reviewed in a scientific journal, a doctor isn’t going to go along with this. Anyone can say anything with no training and no data from the privacy of their home. 

 As for scientists, some scientists don’t feel comfortable meeting the patients that may or may not someday benefit from their research. This is the prerogative of the researcher. I’m very lucky that Lori Wallrath and her lab are very sociable and enjoy interacting with me.

What have been some of the most significant findings or insights you’ve discovered in your research?

Obviously, finding out that the Olympian, Priscilla Lopes Schliep and I share neighboring genetic variants of the same gene. Who could have imagined this? As the research has progressed, it’s been fascinating to how our respective variants were expressed in Drosophila models. Priscilla’s variant resulted in a nuclear membrane that had invaginations and a non-circular shape, whereas my variant in lamin results in a beautifully rounded oval nucleus, but highly disorganized genetic material in the cytoplasm of the cell. So fascinating!! I hope to include these photos in my book. In contrast, the variants of lamin that lead to progeria lead to a collapse of the nuclear membrane. The nuclear lamin protein is critically important for normal cell development.

Collaboration played a crucial role in your journey, from reaching out to David Epstein to connecting with Priscilla Lopes-Schliep. How do you believe collaboration and communication can impact rare disease research and patient advocacy?

 I reached out to David Epstein after I happened upon his appearance on Good Morning America in 2012 as he was promoting his book, The Sports Gene. He was writing about traveling to Norway to find an elite cross-country skier and inquire about his genetics. What a perfect match!! What made David want to connect with me was the fact that I worded my correspondence in such a way that I explained I hadn’t shared my story with multiple journalists, but instead, I had focused solely on him. We emailed and talked on the phone for over a year before he developed trust to reach out to Priscilla’s agent. The other reason he believed in my story was that I understood I would need a “go-between,” to contact Priscilla. 

Your discovery has had a significant impact on the scientific community. Since then, have you had the opportunity to continue working in laboratories or research environments? If not, do you ever miss that environment?

I haven’t pursued an internship in a laboratory since the summer of 2000 when I was 25. As my weakness has progressed, I would have struggled more and more each year to perform many of the skills involving shoulder and biceps muscles because these are the weakest for my body. For example, I used to be able to run electrophoresis gels and manipulate a pipette, but these tasks wouldn’t be possible for me now. Currently, I visit the University of Iowa lab of Dr. Wallrath each summer as I attend the University of Iowa Summer Writing Festival. We go out for pizza and discuss research updates, and it’s something we all look forward to each year.

What was it like discovering a new interest in writing after years of being in the science field? Were there any challenges while switching disciplines? 

I got really lucky because both happened at the same time. It was the summer at Johns Hopkins, and somebody was going to write an article for me about my visit and the connection with the lab. They studied Emery-Dreyfus in the lab I was working in, so I said to the editor of the magazine, “Well, I’m going into writing. Can I write this article?” It was kind of controversial because I was very young. I was 25, and they said, “Well usually we would have someone older and more experienced,” but they said a couple months ago they published a piece by a woman named Rebecca Skloot. She wrote one of the most fascinating books in science: The Immortal Life of Henrietta Lacks. I saw some of her earliest writings that actually became a piece that she published in Johns Hopkins magazine, and she was 27 when she did that I think. [The editor] went to their board, and because of Rebecca Skloot, they said, “I think we should give her [Viles] a chance. I thought that was so cool that Rebecca Skloot already led the way for people to be more open to me despite my youth.

How do you spend your time outside of research?

I’ve spent the past several years writing my memoir and participating in writing workshops over Zoom. I’ve met many wonderful friends this way. It took several years, but I acquired a literary agent, developed a proposal for a book, and was selected for representation by Rowman and Littlefield Publishers for a book deal last December. My final manuscript is due May 10th, so I am busy each day working on this. My book will be released in the Spring of 2025.

Looking back on your journey, what has been the most unexpected yet beneficial lesson you've learned, either about yourself or the world of scientific research?

This may sound sappy, but my most important realization was that I could find love and acceptance in a marriage partner. I was always trying to “fix” or “improve” so much about me to make myself someone worthy of inclusion in marriage and family life. Perhaps I was obsessed with unraveling my family’s genetic mystery to an unhealthy degree. There came a point in which I “tabled” my scientific pursuits and lived a more happy and carefree life typical of someone in their late twenties, and this is when I met my husband, Jeremy. I write about this transformation in my memoir. It was very difficult to overcome the negative ways I viewed my body after being examined on so many occasions. It was hard on my self-esteem.

In your experience, what are some of the most significant challenges facing the field of neurodegenerative diseases today, and what strategies do you believe are most effective in addressing them?

We need far more genetic testing, particularly whole genome sequencing. Many people have the false concept that doctors can screen for anything genetic given the panels of genetic variants they can screen with commercially available kits. This is absolutely NOT the case. Take for example the very powerful genetic modifier, smad7. A variant in this gene, along with my nuclear lamin variant, can increase the severity of my disease, yet the smad7 gene is not included in any commercially available neurodegenerative disease panel. If a variant is very rare, insurers don’t want to pay for this, so they don’t offer this screening to doctors and patients. I organized a study of smad7 variants and recruited the patients in the study from our Facebook group (physicians and researchers cannot access patients like this due to privacy regulations). We found incredibly interesting results in our study, but we’re not allowed to know which patients have a smad7 variant. It’s very frustrating.

I would love to see patients with neuromuscular diseases treated with gene therapy as early as possible. This is life-giving kindness! For example, type 1 SMA can be detected and treated from the first week of life with gene therapy otherwise the patients do not live beyond the age of two. If treated right away, it’s nearly impossible to identify children with type 1 SMA from their peers if they’ve received gene therapy very early.

Further, the FDA is set to restrict or expand the use of gene therapy for Duchenne muscular dystrophy patients by June 21st of this year. This is an incredibly important story to follow. Though the gene therapy can’t fully “cure” Duchenne muscular dystrophy, parents have provided videotaped testimony of the extraordinary improvement they’ve achieved with DMD gene therapy. This is arguably the cruelest disease of childhood. This treatment is desperately needed.

You may want to read about Dr. Peter Marks and the extraordinary lengths he has gone through to get DMD gene therapy approved. At the time he assumed a leadership role, the FDA was set to pull DMD gene therapy to all patients, but he intervened and requested a public hearing. Sometimes in life, one person can make an incredible difference.

How do you think your story will impact studies of genetics and personalized medicine as a whole? 

I hope it will make parents better advocates for their children with rare genetic disease. Maybe after reading my book, a parent might say, “Look, my child needs whole genome sequencing”, and if the doctor/insurance company won’t pay and says this is unnecessary, they will set out on their own to privately pay for this. Fortunately, the same technology that helped my family find a powerful modifier gene now costs only a few hundred dollars. When this was done, back in 2017, the cost was $15,000. (It was an extraordinary gift from Congenica, a genetic sequencing company in the UK). I guess I have a specific impact rather than focusing on the whole, but often, with rare disease, it comes down to the specific impact.