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Sounds of Science is a monthly podcast about beginnings: how a molecule becomes a drug, how a rodent elucidates a disease pathway, how a horseshoe crab morphs into an infection fighter. The podcast is produced by Eureka, the scientific blog of Charles River, a contract research organization for drug discovery and development. Tune in and begin the journey.
Mary Parker:
I am Mary Parker, and welcome to this episode of Eureka's Sounds of Science. I'm joined this week by Molly Dupre, Lab Assistant for Charles River's Reno site. Earlier this year, Molly was diagnosed with Niemann-Pick Type B, acid sphingomyelinase deficiency, a rare disease that usually presents in children. In Molly's case, diagnosis was delayed until she was 21. She's here to discuss her career, her diagnosis experience, and the promising treatment that she is now receiving. Welcome, Molly.
Molly Dupre:
Well, thank you so much for having me. I'm excited to be here.
Mary Parker:
Thank you so much for reaching out. I'm excited to tell your story and share your thoughts. But I'd love to start with your background. How did you come to work for Charles River?
Molly Dupre:
Awesome. Well, actually before I was working at CRL, I was working as a pharmacy technician for a local pharmacy. So I had a lot of patients from the CRL Reno site who would actually be my patients at the pharmacy. And they would always just talk about how great it was to work there. So when I was looking for a new job, I actually applied here, got interviewed shortly thereafter, and then was hired.
Mary Parker:
What kind of educational training had you had for your original pharmacy position?
Molly Dupre:
So it was actually on-the-job training for that specific company.
Mary Parker:
Cool.
Molly Dupre:
So you got certified while working there.
Mary Parker:
That's great.
Molly Dupre:
Yeah.
Mary Parker:
So what does your current job of lab assistant entail?
Molly Dupre:
So specifically, we deal with a lot of data accuracy, verification, and integrity as lab assistants. Our main priority is labeling tubes for multiple departments such as necropsy, surgery, tech ops, as well as just overall support for our labs in the Clinical Pathology Department, basically as a support position.
Mary Parker:
It sounds like you probably have to memorize a lot of rules and regulation regarding handling and data labeling and all that sort of thing. So would you say you're pretty detail-oriented?
Molly Dupre:
Yes. I try to as much as I can be. I also have ADHD, so I'm a little spazzy.
Mary Parker:
Oh, yeah.
Molly Dupre:
But yes, I try to.
Mary Parker:
Well, sometimes it can help to have those rules in place, because then it's like a checklist you have to follow.
Molly Dupre:
Exactly.
Mary Parker:
I know for me personally, it helps me not forget something if I have a list to follow and check things off of.
Molly Dupre:
Yep. All those little tools and tips to keep you running smoothly.
Mary Parker:
Exactly, exactly. Well, and you live in Reno, but to outsiders, Reno is kind of on that same level as Las Vegas and Atlantic City. It's like a vacation place where you go party. But what is it like to actually live there?
Molly Dupre:
Yeah. So it's not called the Biggest Little City for no reason. So since I've grown up here, Reno has actually grown a lot. It used to be a lot smaller, but it still does not have a lot of the same resources and opportunities I've noticed as a lot more of the bigger cities. But what I do enjoy most about our area is the nature. All of the beautiful trails, mountains, the wildlife are super vast and beautiful. So I love to spend most of my weekends going on walks, collecting seashells, rocks, leaves.
Mary Parker:
Nice.
Molly Dupre:
Yeah.
Mary Parker:
I was out West once and there was a, I don't actually remember where I was, but we came to some sort of lake. And I picked up a handful of sand, and all of the sand was made of tiny little, looked like seashells.
Molly Dupre:
Yes.
Mary Parker:
But we were really far from the ocean. Is that the kind of stuff you've got out there?
Molly Dupre:
Oh, yeah. And then, we also have the little clam shells, too.
Mary Parker:
Cool.
Molly Dupre:
There's a lot of stuff you wouldn't expect to find in Nevada.
Mary Parker:
Yeah. Yeah. That's awesome. So getting into your diagnosis, when did you first suspect that something was up?
Molly Dupre:
So the first point where I truly started suspecting something was when I actually gave birth to my son. During that, I had coded and hemorrhaged, and there was no explanation as to why. What followed there on was constant chronic infections, like ear infections, getting strep, getting the flu, even E. coli, just a lot of different things as well as constant body pain in multiple parts of the body, as well as major medical episodes like sepsis, and then lots of abnormal imaging and lab results as well. That all just kind of concluded that something was not quite right.
Mary Parker:
Oh, man. That must have been so scary. On top of the stress of being a new mom, having all this stuff happen all at once, I can't even imagine.
Molly Dupre:
Exactly.
Mary Parker:
So what were your experiences in the early stages of trying to get a diagnosis?
Molly Dupre:
It was really isolating and difficult trying to get any straight answers from anybody. I had multiple hospital admissions. I went to multiple different specialties, as well as different doctors within the same specialty that would somehow tell me within the same visit that I was both high risk for morbidity and mortality. So if you are not familiar with those terms, basically how the doctors explained it to me was mortality means that I had a higher risk of death. And then, morbidity meant that I had a high risk for a serious disease, which at the time they thought could have been a certain type of cancer.
Mary Parker:
So it sounds kind of like they thought you might actually have cancer. That would be not surprising, given that cancer is a much more common diagnosis than what you eventually ended up with. But what kind of symptoms were they equating to that diagnosis?
Molly Dupre:
So what really made them start looking into cancer and oncology was I actually got admitted for sepsis. I had a septic episode where they could not find the source of infection. And in that same admission, they also found that I had a lot of abnormal organs. And what I mean by that is my liver and spleen, they were both enlarged, which at first they misdiagnosed me with fatty liver disease because they thought it was fat deposits. But it turned out that my liver was actually just enlarged. And then, they found out that my stomach was paralyzed and that I had very weak bones, like osteoporosis. So just a lot of things that at first they thought could either be a certain type of leukemia a lot of the results were adding up with, and then as well as a certain type of rare bone cancer as well.
Mary Parker:
So when you're thinking back over how you felt your whole life, were there any symptoms that in hindsight were clues along the way? Because things like enlarged liver, large spleen, you might not have felt those. But were there any other things that you did feel that in hindsight, you're like, "Oh, yeah. This might've been part of it."
Molly Dupre:
Looking back now, one thing that really sticks out to me was as a kid, I suffered from a lot of ear infections that were so bad to the point that I suffered from permanent hearing loss and actually started needing to wear hearing aids from the age of 11, was when I got my first pair. Well, to me that was always normal as a kid, but looking back now and seeing, that definitely could have been from this disease or could have been impacted by this disease.
Mary Parker:
Yeah.
Molly Dupre:
So stuff like that, just unexplained things or stuff that I was like, "Oh, it's just normal for me." And then, looking back now, I'm like, "Oh."
Mary Parker:
Yeah, absolutely. So when you finally got some answers, how did that make you feel?
Molly Dupre:
Oh, it was like a breath of fresh air knowing that I was just right to keep advocating for myself and believing, even though in my head and certain doctors were telling me, "You're crazy" or "It's all in your head" or "There's nothing wrong with you" or "Oh, there's something wrong, but it's nothing. It's just your asthma acting up or something."
Mary Parker:
Yeah.
Molly Dupre:
So it was amazing to know that while there isn't much information when I got diagnosed, I knew that there was hope. I had some answers, if not all of them.
Mary Parker:
Yeah. You talk about feeling dismissed. Obviously, there are a lot of wonderful doctors out there, but as studies have shown, there are a lot of physicians who don't listen to women when they say things, and especially younger women. There's been a lot written on this subject already, feel free to Google. But did you kind of feel like that might've been part of it?
Molly Dupre:
Oh, yeah. I definitely feel that my age and my gender had a big role in the delayed diagnosis, as well as I feel like another big part of it is the lack of general education.
Mary Parker:
Mm-hmm.
Molly Dupre:
Because I feel like general health education is like washing your hands, keeping yourself safe, keeping others safe, but not how do you advocate for yourself? What do certain test results mean? What do you need to keep track of? What do certain genetic changes have on certain people? And yeah.
Mary Parker:
That's a really good point. I hadn't thought of that before, because I have this rant that my friends are sick of, of talking about how schools should really do some more home economics -type courses.
Molly Dupre:
Yes.
Mary Parker:
And balancing checkbooks, comparing insurance companies, all those basic things that sometimes your parents have time to teach you and sometimes they don't.
Molly Dupre:
Right.
Mary Parker:
But advocating for yourself to your doctor and having a sort of at least general layman's understanding of what symptoms could mean, you're right. That would be an excellent thing to include in classes like that.
Molly Dupre:
Exactly. Especially with the epidemic of doctors versus patients like WebMD or using Google or using the internet as support for medical advice, so yeah.
Mary Parker:
Absolutely. Well, speaking of general education, can you tell us what is Niemann-Pick Type B? And what does it mean for you?
Molly Dupre:
Alrighty. Well, Niemann-Pick Type B is specifically a type of genetic disease that causes a buildup of lipids in certain types of cells and organs, some of those being your blood, spleen, brain, liver, bone marrow, heart, lungs, and stomach. As I have not yet seen a specialist who can give me my full prognosis, I cannot say the full extent this disease has had on me at this time. But from the information my doctors have currently collected, they know that my lungs, heart, liver, stomach, spleen, basically all of them have been very greatly impacted already.
Mary Parker:
And what does that mean for your general health and the sort of things you need to take care of going forward?
Molly Dupre:
It has impacted me a lot. That means I require a lot more testing and imaging than normal, as well as more maintenance medications, blood work, more time off work, more time away from my son, more limitations on my health, like weight restrictions. There's a lot that impacts me.
Mary Parker:
Yeah. Well, you mentioned a treatment, and I know that I believe you said it was Lauren Black who helped set you up with a promising treatment. Can you tell us a little bit about that?
Molly Dupre:
Yes, yes. So Lauren Black, I was connected with through my supervisor at work, actually. And once I got connected with Lauren, she started recommending looking into certain specialty hospitals that had programs for diseases like mine so I could get connected with a specialist in my disease. During this process, I was connected to a local rheumatologist here in the Northern Nevada area who agreed to start me on the treatment locally until I'm able to see my specialists in New York and Vegas.
Mary Parker:
Oh, okay.
Molly Dupre:
Yeah.
Mary Parker:
There's one in Vegas, though. That's good.
Molly Dupre:
Yeah. There's one at Cure for the Kids Foundation and then one at Mount Sinai in New York. So I will be seeing both of those once a year.
Mary Parker:
That makes sense, since it is usually a childhood disease.
Molly Dupre:
Yeah.
Mary Parker:
So how is your treatment going? How do you feel now?
Molly Dupre:
Well, I would say it's a silver lining, for sure. It has a lot of benefits and cons, but I wouldn't want to exactly put it that way, because obviously the symptoms are no fun to endure. And while this is not a be-it-all, cure-it-all, I feel that this will be worthwhile no matter how little the impact is. It's hope, so yeah. Even though it hasn't been fun, the motivation keeps me going.
Mary Parker:
Absolutely. And I think Charles River did some of the early testing on the treatment that you're now using. So how does it feel to work for a company that has sort of indirectly helped with this?
Molly Dupre:
Yeah. No, it really made me just take a second, for sure, to really realize not only how big the medical field actually is, you know?
Mary Parker:
Mm-hmm.
Molly Dupre:
But as well as how important every aspect of drug development is, of every part of healthcare individually, together. It is so important.
Mary Parker:
Yeah. Yeah. And so, what would you offer as advice to patients who are seeking a diagnosis for their own mysterious symptoms or to patients who have gotten news you've just got?
Molly Dupre:
So I would recommend if you're struggling to get a diagnosis, the best advice I have for you is to not give up. It is very hard to cave into our negative thoughts of ourselves, our anxieties, insecurities, especially when healthcare professionals, like you mentioned earlier, that you are supposed to trust to listen to your symptoms and also accurately diagnose you, it can be very disheartening when you are not taken seriously. But if you have received a diagnosis similar to mine or with a similar severity, my best advice for that as cheesy as it is, is to enjoy the little things. Because it really shows you how much you cannot control in life, but how much you can appreciate with it. So you might not have been dealt the best cards, but you can make them pretty. You can do your best.
Mary Parker:
Yeah. Yeah. That's a good way to think about it.
Molly Dupre:
Yeah.
Mary Parker:
In other news, how's your son doing?
Molly Dupre:
Oh, gosh. He's doing amazing.
Mary Parker:
Yeah?
Molly Dupre:
The only thing he's struggling with is asthma, but he's doing a lot better with that now being on an inhaler. But yeah, besides that, he is just happy-go-lucky. He is always so curious to learn about all my medical stuff. He always comes to all my appointments. The phlebotomists are the vampires, the surgeons are the zombies. He's amazing.
Mary Parker:
That's too cute. All right. Well, thank you so much for joining me, Molly, and sharing your story. I really appreciate it.
Molly Dupre:
Yeah. No, thank you for having me.