Venkata: Hello listeners, welcome to LetsTalkAboutNF, the podcast that facilitates discussion around the topics that affect the NF community. Through this series, we hope to convene patients, caregivers, and clinicians to dive into the social and clinical aspects of NF - whether that’s walking through how multiple individuals deal with a similar issue or breaking down recent clinical trials into accessible and engaging discussions.

I am your host, Venkata Jonnakuti, and today we meet with Mrs. Jessica Contreras, a walk director for the CTF Shine A Light Walk in the Bay Area, a mother of 4 children, as well as an individual with neurofibromatosis type 2. Now, let’s talk about NF.  

Venkata: Mrs. Contreras, would you mind telling us who you are?  

Contreras: Hi, my name is Jessica Contreras. I live in Tracy California. I am 38. I am a mom of four and I have NF2.   Venkata: It is so nice to have you on this podcast Ms. Contreras. Would you be able to tell us a little bit more about your NF2 diagnosis?

Contreras: Oh gosh, um, I was actually misdiagnosed neurofibromatosis type one at an early age of 12. And, after that I didn't really have much symptoms at all, so the doctors weren’t too concerned. Plus, at the time there really wasn't much research anyways. There were all these publications regarding NF. So my parents didn't really take too much time into it because there was nothing there, I just knew I had this condition NF, which at the time was compared to Elephant Man disease.

So that's what they were, I was told and it was kind of scary at 12 years old, you're told you're gonna have Elephant Man disease, but it wasn’t up until my late 20s I started losing my hearing. Well, I just I thought I knew I was losing my hearing. But doctors were insisting that there was just fluid behind my ear drums just fluid, you'll be fine. You'll be fine. And it wasn't until I had my MRI, after I had my last son that realized that, um, I had an NF2. They had found the tumors on the eardrum, along with a 5 mm sized brain tumors. So that's kind of how that went from there and after that, that's when I started learning more about NF2 and that this whole time I guess I you don't like grow into NF1. You either have one or two and I guess the whole time I had two and I had no idea about it.  

Venkata: Could you tell us a little bit more about the differences between NF1 and NF2?  Contreras: Um, I don’t know if there really was a difference honestly, other than the hearing loss. As for me, growing up I didn't show any symptoms really. I mean my body hurt every so often, but I knew that was normal, but I just assumed I got a very mild case of NF1 because my tumors weren't visible.

And with NF2 they're more on the nerves. I mean like it's almost like an invisible disease that you're not able to see so this whole time I was just kind of going through life, hurting, but at the same time I was like oh okay, it's fine doctor, letting me know I had a mild case because I wasn't showing symptoms, as far as on tumors that were visible.

Oh, it wasn't until I realized I had NF2, obviously that it's like oh now, it makes sense my body hurting it wasn't because I had a mild case of NF1 it was actually NF2. My spine was covered in tumors that you can't see. And the hearing loss that I had no idea that was, um, I guess I could classification of a NF2. I just, I thought it was just me losing my hearing, I don’t know.  

Venkata: Right. Could you tell us a little bit more about what it was like growing up with neurofibromatosis. More specifically, growing up with the diagnosis and growing up not knowing when to expect the symptoms to manifest themselves.  

Contreras: Well when I know at the age of eight to 12. Um, it was confusing I didn’t even know how to say it, I mean you learn why you know how can you live with something you can't even pronounce correctly, and then to be told, you know, at the time, elephant man disease. I was terrified. I was like this- it just didn't make sense to me everything just kind of have like a domino effect you find that you have this condition, that you can't pronounce, and if I can't pronounce and I didn’t even understand it, I feel really isolated to even let people know that I had NF because it was something I couldn't even explain.

I guess, with being so rare, you just don't want to talk about something like that it's just one of those situations because people won't relate. And it was just scary it wasn't up until I really started do my own research, well, research should be more available, I'm sure the research has always been there but in there being that at the time that wasn't the computers, things like that it was just, it was something like, you just kind of kept it to yourself and it was hard even for my parents to explain this is what my daughter has, because we just didn't know, a few brochures but that was it.

So growing up, I just kept it to myself I try to be as normal as possible. When my body hurt I kind of just shrugged it off. “Oh you’ll take a Tylenol and you'll be fine.” But little did I know I have these tumors growing inside of my body. That's kind of just how I kept it quiet just because I'm you know so rare growing up, you're just not sure if it'll even be accepted because people look at you like oh is that contagious. But, I couldn't give that information on account that I didn't even know. Growing up I was just kept quiet about it.  

Venkata: And agreed it is very unfortunate that it's called The Elephant Man disease. I feel like it does more harm than good by characterizing it by a name that's probably not even accurate for a vast majority of patients with neurofibromatosis to begin with.  
Contreras: At the time, when I talked to my doctor, he had showed me a picture, this is what NF looks like and it was scary, realistically you know I was 12 years old. It was something new. And then, there wasn’t anything promising like there is now. There was nothing so when I'd seen pictures I'm like okay you kind of, I guess your mindset starts to think okay this is gonna be how things will end up, but you just got to kind of just roll with it you know it's not really much you can do especially when doctors are letting you know, there is not enough research there's not enough trials that was, there was nothing. We wanted to do everything we could almost in the sense like okay let’s get this tumor out and I won't have NF anymore, but that wasn't the case. I mean it's a lifelong condition.  

Venkata: So how has your experience with experiencing neurofibromatosis, and telling others about your diagnosis changed since you were a child?  

Contreras: Oh gosh, I feel I could yell it from the rooftop about my NF. It wasn't actually up until 10 years ago, I had a nine centimeter tumor taken out of the top of my spine with a cyst on top the size of a golf ball I didn’t even know I had. I thought it was just kind of stress of being a mom having kids. But it actually left me paralyzed, um, there was complications, and I was paralyzed from the neck down for six months, not sure if I'd ever walk again. I mean just the whole nine doctors at Stanford weren't convinced that I would be okay.

Basically, you know, they're kind of shrugging their shoulders, well we'll see what happens, but there's a high possibility that you're going to be in a wheelchair for the rest of your life. And for me that was almost like a wake up like okay Jess you can’t, you won't accept this you know being in a wheelchair for the rest of your life because you have children.

And I just kind of pushed myself, and six months later I was taking baby steps. And that following a year I did my first walk with the Children's Tumor Foundation. And after that I just felt like it was, it was my reason I guess everything happens for a reason; I truly believe that. And, I just felt like in my heart I just had to advocate, because even though I have NF2.

My spine’s covered in tumors and I’m sure the rest of my body is covered. I just can't see. I'm able to speak. I'm able to do that, so I kind of need to be the voice for those of us that can’t advocate. So, I've always told myself you know NF can make me better or it could just make me better and I just kind of had to go with that different outlook, I feel like that's the only way that will get you through this. I wanted to have a more positive outlook. So, I just kind of advocate anytime, any chance I get. I’m like oh you know, neurofibromatosis, something that they say that it’s rare. It’s actually not. NF affects one in 3000 births, NF1 anyways.

I mean, to me, that's not rare, but I just know people aren't talking about it so there I am kind of wearing my shirts advocating wherever I can, however I can. Even with our interview kind of coming out of, out of my comfort zone, I'm not one for interviews because I did lose my hearing and also with the hearing loss. So, I'm overthinking okay how are we gonna do this; can I do this? But then, I'm like you know it's for the greater good, so it has to be done.  

Venkata: That is very inspiring. And, just so our audience knows what types of advocacy have you done so far for neurofibromatosis.   Contreras: Oh gosh, I’m everywhere. I am the walk director for the Bay Area shine the light walk with the Children's Tumor Foundation. I did just complete the run across America, advocating for NF funding for research. Oh, gosh, I'm everywhere. When CTF has an event to volunteer, I just have to talk about it. I did a radio pocket radio interview last year. I did proclamation for my town for the city of Tracy. I mean I know anytime anybody has something I just, how can I help I might not understand it; I might not have experience for it, but I'm definitely willing to get the word out.  

Venkata: That is awesome. Do you have any advice for other patients, young or old, so they can better advocate for themselves?  

Contreras: Any advice? Honestly, we just may have to tell our stories as scary as it may sound as much as much as we might feel at times I mean not so much that we’re ashamed but like isolated that people don't want to hear it. I think for me when people stare at my scars at the back of my neck. It kinda does look a little scary, but I would rather have them ask than stare or wonder, so I feel like with so much promising research that we'll get through it and we should possibly be part of this history of neurofibromatosis because like I tell my children I want to be able to tell my children’s children, you know, there was no clinical trials, when I was first diagnosed but I feel like we have to take this as we’re being part of history.You’ve just got to put yourself out there and be a little bit louder so people can understand.  

Venkata: Is there anything you would have told your younger self, when you were feeling those feelings of trying to keep it in, not trying to tell anybody else about your diagnosis?  

Contreras: Definitely, um, I think that, I would have possibly had a better outcome as far as waiting too long to have surgeries, granted I talk to people about it. Because I ask my doctors more questions, I feel like now at my age the tumor that was removed from the top of my spine could have been prevented had I not waited for so long because I just didn't know too much about it I mean it was slowly growing in my body. And I think I could have taken maybe six months MRI, just simple things I could have watched. Unfortunately, unfortunately the tumor that I did remove started growing back two years ago, but because of my MRIs, it was able to be caught, that it was slowly growing back and I did a radiation treatment, 28 treatments of chemo. And it was, I think because I took those precautions kept up on it, did more research on it, I was able to catch it whereas as far as my younger self kind of just hid it. I would, you know, cross my fingers that it could just kind of go away on its own but that was never the case.  

Venkata: Absolutely. Considering your hearing difficulty, I would imagine the pandemic made it difficult to communicate. Would you be able to describe how the pandemic has affected you?

Contreras: Oh gosh, that was just a whole other headache. Oh, I was doing infusion treatments, and I would go to hospital and of course nobody wants to take off their masks which I completely understand. But at the same time, I'm like hey look I can't read your lips I depend on lip reading, and I was able to do that but nobody wants to take off their masks, so it was it was frustrating. It was all like, you’re so frustrated you’re in tears because you want to you want to do simple things and you really don't want to feel like you're being belittled by people not wanting to communicate with you, but it seems like it was more easy for people to turn their head and kind of just ignore if I was asking questions, rather than pulling down their mask and talking to me. I would even pull up my phone, but people just didn't want to touch your phone, you know, can you open up your phone, there was just so much precautions, which I don't blame anybody, but it was a pain even.

People say, you know, can you call, no I can't call I mean I wish I could, but for me it's always been one of those things where you can ask me can someone call for you?, which is a nicer way of saying oh you need to call. Well I can't, you know, don't just tell me what I need to be doing. Suggest something. But, it's just kind been extremely frustrating. I actually just stayed home, nothing else in between because it was so frustrating. I knew it was gonna be a headache, just doing simple things like going to the store because you can't, I can't read lips.  

Venkata: It's actually very interesting to realize that with the pandemic and the rise of wearing masks, not many people know what type of groups are being marginalized by a simple act of wearing a mask. So I can see how difficult it would be for people with hearing difficulty. And have you gotten over this being unable to read lips during the pandemic and moving forward.  

Contreras: Ah yeah it's kind of one of those things that you just kind of brush it off now like okay it is what it is you know I can't keep stressing about it. So, um, you just kind of accept it. You know it's not their fault, you know their concern I mean they might have loved ones at home that they're extremely concerned about, so I've learned not to take it personally. I understand that. I was the same way with chemo treatments. I was extremely vulnerable, so I understand I guess I had to put myself in their shoes when someone didn’t want to pull down their mask. I just didn't take any of it personally. I know it's not against me personally.  

Venkata: I'm glad that you were able to overcome this. And, we talked a little bit about this previously, earlier on, during this interview, you mentioned that neurofibromatosis type two that you have presented itself as spinal tumors, which had pain, and also deafness. Has neurofibromatosis affected you in other ways besides just those two clinical manifestations?  

Contreras: Oh well, my balance is terrible. I’m a mess. I mean, other than that I just, you know, people don’t, because you can't see what I'm going through, they kind of assume you don't. There are times when I do park in the handicapped section and people just are looking down on me because they don't see that I have tumors on the bottom of my feet, on my ankles. They don’t see that the night before I was up all night in pain, just aching pain.

On top of that, I also have nerve damage from the spine tumor. So it's those things even with you today in this interview you would have had no idea I was up till three in the morning just with pain, and I didn't want to take Tylenol because it would make me groggy, I don't want to take this medicine, so you just stick it out. And that's not something I need to shout on top of the roof that you know I had pain last night or I'm in pain right now, but you just kind of push through it, I guess so.

Even my night balance is terrible, right now, so I feel like I missed out on so many things. People always “Oh lets get together and have a drink”. Well, I can't because I know my night balance is just terrible. “Lets go have dinner.” Well no, it's getting dark, I mean just simple things that people don't really think about going to the movies I just I stopped doing that because of the lights how everything’s so dim. I'm on the holding onto the rail for dear life trying to go down the steps or up the steps, but it's just the simple things living things that you don't think of, it's a lot harder for me.  

Venkata: I agree it's often hard to relate with people whose symptoms are hard to visualize and it must be very difficult for you especially, to be able to tell, communicate with these other people who find it difficult to reach out and connect with you on this type of platform.  

Contreras: Right and I think it makes it worse because I wasn't always like this. I’m just slowly growing in, slipping by. Well what’s wrong? We used to do it before. We used to go the movie before. Well, yeah I just can't do that anymore, but they don't really understand it just because it's not visible, you're not seeing my difficulties.  

Venkata: Are there any other, because you touched on this a little bit you've talked about how it's difficult to just walk around and how it's difficult to like you know go to the movies or using even handicapped spots because other people might not even be able to understand why you need a handicapped spot in the beginning. Are there any other examples like that that you don't mind talking about?  

Contreras: Oh gosh everywhere, honestly, um, I find dirty looks. I watch- actually, this happened to me yesterday. I went to go watch my boys’ baseball game, and of course I'm sitting there in the handicap seats, so higher, and I have this guy kind of looking at me funny. At first, I was like okay, kind of brushed it off.But then I noticed that he was just standing really, not close, but enough to where he wants me to give him attention. And he kind of- I looked over and I smile I'm trying to be polite and he kind of gives me a dirty look. And now, I'm like well okay I can put two and two together it’s because I’m sitting in a handicap seat. But little did he know that, you know, my feet these nerves, that’s actually, it's painful. I've gotten that before.

Um, there have been times where I’m sitting down because my legs hurt and people and just in public, even in lines I take a second to sit down and I get dirty looks. I do get it. Not only that, with the hearing loss, people assume that I'm just being rude and, you know, maybe they talk to me and I can’t hear them, and I've got so many dirty looks, even being deaf now I've actually had people from the deaf community not welcome me because I wasn't born deaf. I mean there's just so many things that happen because of my NF that I can't control, but I’m more than willing to pull out a brochure for my purse and share with you what I am if you just ask. Just little things like that.  Venkata: No, totally, I totally see where you're coming from and how difficult it is. How do you deal with these dirty looks? Do you just brush them off?  

Contreras: I kind of go with the kill of kindness. Just smile and that's all you can do. Does it bother me at times? Yes, but you just kind of have to smile and just brush it off and remind yourself it’s not personal, you know you can't take every single thing personal. As much as I can I do wear my shirts my NF shirts, my tumor foundation shirts in hopes that they’ll read the shirt and oh, okay, maybe this could be what it is. But I think that having our condition we just have to really truly learn to not take things personal because these people aren’t educated about something that has been rarely talked about.  

Venkata: How have you limited your activities because of your NF2 diagnosis?

Contreras: Oh, like I said. Once nightfall comes, I’m like no count me out. And I tell them that a lot. I have people that wanna get together. Oh lets go to a baseball game. Oh I’m wondering huh let me google are there high steps. It’s simple things I don't like that I have to limit myself on, but it's just the reality.  

Venkata: Sounds like you have to almost do extra prep work in advance to see if you can even participate in those activities.  

Contreras: Oh yeah, definitely, even like with you I asked prior please let me know what I have to do. I have to prep myself, see if my closed captioning works. I do. Every time I go somewhere, something simple. Oh, we’re going to, you know, head out to the baseball game, my kids even playing on a different field. Okay, well let me Google where I’m going real quick. I have to know. And it's not only just to prep myself, it’s precautions. I’m deaf I rely on what's going on around me, so when I’m unfamiliar that makes me nervous. I pretty much Google everything. I'm looking at reviews, all for simple things, before I go anywhere.  

Venkata: When and how do you tell others about your NF2?

Contreras: Um, I just, I think that when they when people see my hands, my fingers don’t fully open up since the spine surgery. I think that kind of opens up the door for how did that happen. Oh okay well let me tell you about NF2. When they see my scars, they have questions and I kind of more since I rely on facial expressions I rely on what's going on, I kind of see that they’re looking. I’m like oh you see my scars. Oh yeah, I don't want to pry. I’m like oh no please go ahead. And that’s just kind of opened up the door to it. It's just one of those things, when you see people looking at you kind of funny and just I throw myself out there. Oh, you know, don't worry. It's okay, you know, I'm fine. When they ask about my hearing loss, I’m like oh I lost it a couple years ago because of my NF. Well, what's NF and then that's when I start going. I just, when someone looks at me differently, or just throws out any simple question. Oh, your body hurts? Yeah, chances are it’s my NF. Well, what’s NF? I throw it out there as much as I can because I would rather educate people, than just have them wondering.  
Venkata: It sounds like you wait for them to ask you a question about your NF before you tell them what you're going through.  

Contreras: Um, no, not really, I kind of just throw it out there before they even feel like- I don’t want them to feel uncomfortable for asking. honestly, for some people it's a personal issue, we haven't heard about, you know, NF and so I just throw it out there before they even know we ask, because I don't want anyone to feel uncomfortable. And I sure as heck don’t want them to go home still wondering about what NF is. I want them to at least leave with a little bit of knowledge and I always guide the CTF website. What’s CTF? Ctf.org. Check it out. And that way they can go home and look at that on their own but at least they do have an idea of what I have. So I try not to make it a personal issue with myself I just throw it out there. That’s the only way we're gonna raise awareness.  

Venkata: Right and I was just gonna say I think it's very important with NF itself being a very rare disease, even though it’s the most common rare disease, it’s a rare disease nonetheless that patients like yourself, really need to advocate and bring about awareness so more people are aware that Neurofibromatosis is a condition that a lot of people are dealing with and you know it's a wide range of what it looks like and how people manifest these symptoms.  

Contreras: I love know that we campaign for NF and you’re seeing so many different versions of NF, but the reality is we all come right down to having NF, and I love that we have our events you're looking at so many different types of people that we're all still related somehow to NF.  

Venkata: No, I totally agree. Is there any advice you would give to other people with NF? It could be a child, it could be a newly diagnosed parent with somebody who has NF, or anyone else. Do you have any advice you can give?  

Contreras: I always say we'll get through it. I know it doesn't seem like it, trust me, it does not even when I was laying in the hospital, lifeless really, you could say, I actually believed that we’ll get through it and there’s so many resources out there that just don't be afraid to ask. That's why I think one of those things that people take so long to process, and that's not we can do that. But, if we don't advocate for ourselves even if we're a little uncomfortable or our voices are a little shaky, then we're not going to get the research and the proper attention that we do need- that we deserve. So I think one of the things I could tell them is just don't be shy about your NF. And if you feel that way, I will always offer my number. Text me and I'll be with you every step of the way as far as advocating.  

Venkata: Mrs. Contreras, thank you so much for joining us in our interview today.

Contreras: Thank you.