Ep. 236: Indolent Systemic Mastocytosis - the Patient Perspective

This podcast explores Mast Cell Disease, and we're learning more about this disease directly from someone living with it. Our guest, Rachael Rose, is a patient living with Indolent Systemic Mastocytosis. She will share her journey from diagnosis to daily living with this condition.

Resources to keep you in the know:

• Systemic Mastocytosis - All Variants (TMS for A Cure)

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Sponsored by: Blueprint Medicines

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Transcript

Caroline: Welcome to FAACT's Roundtable, a podcast dedicated to navigating life with food allergies across the lifespan. Presented in a welcoming format with interviews and open discussions, each episode will explore a specific topic, leaving you with the FAACTS to know or use.

Information presented via this podcast is educational and not intended to provide individual medical advice.

Please consult with your personal board certified allergist or healthcare providers for advice specific to your situation.

Hi, everyone. I'm Caroline Moassessi and I am your host for the FAACT Roundtable podcast.

I am a food allergy parent and advocate and the founder of the Grateful Foodie blog. And I am FAACT's Vice President of Community Relations.

Before we start today, I would like to say thank you to Blueprint Medicines for their kind sponsorship of FAACT's Roundtable podcast.

Rachel, welcome to FAACT's Roundtable Podcast. We're absolutely thrilled and delighted and very excited to have you on today to talk about an area of mast cell disease that we just don't know enough about.

You giving us the patient perspective is really going to help.

Rachael: Thanks so much for having me. I'm excited to be here.

Caroline: Well, we're equally as excited.

Let's start off by getting to know you better. So can you share a little bit about your background and then when you were diagnosed with indolent systemic mastocytosis?

Rachael: Sure. My background is mostly as a graphic designer, but I do a bunch of other things. I do some work as patient advocate. I'm a certified sex and relationship coach and educator, and I do a lot of community organizing in the Philadelphia area.

Uh, and I was diagnosed in 2009, my senior year of college.

Caroline: So you were definitely diagnosed a little later in life. You didn't know about this when you were younger?

Rachael: No, but it's actually surprisingly way before most adults get diagnosed. I think most folks with mastocytosis get diagnosed either as a child or like 40s, 50s. But I'm not sure if that's largely because the point from realizing you're sick to getting a diagnosis can sometimes be really quite extended for a lot of folks.

Caroline: Well, we're going to get into that a little bit in just a second here.

And listeners, I just have to let you know that the room she's sitting in is drop dead gorgeous. And I wish you could see it, but it's this beautiful blue wall and these clouds and it's just so pretty.

So I just wanted to share that so you can get that vision in your mind as we talk.

So now let's dive right into just that. So how were you diagnosed? And then talk about how that long process went.

Rachael: And so I was really fortunate. My long process was actually only a couple of years. When I got toward the end of high school, I started noticing that when I was outside and it was hot out or if I took a hot shower,

that I would have these dots that turned red on my skin. And I would be like, mom, my dots are angry. I don't. Because I didn't know what they were.

And then as I went into my freshman year of college, I started noticing that they were popping up in new places. I sometimes would see them on my chest or my neck and sometimes the side of my face.

And eventually, on a trip home from school,

I went to see a dermatologist who then biopsied what I am certain was a freckle. And I knew it was at the time, and he didn't listen to me. And so that was disappointing.

And he told me it was some benign thing.

And then a few years later, I went to see a different dermatologist. Not for anything specific, but just because my mom had found one that she liked. And so I made an appointment for, like, a full body check.

And I had complained about my under eye circles. Cause they're quite dark and. And I'm quite pale. So it, like, looks very like, zombie, like, sometimes. And she was like.

She looked at me and she was like, you're stuck with those. Those are genetic. But I think I know what these dots on your arms are. Can I biopsy one?

And from there, she biopsied it and sent me to get blood work done, which I now know was my tryptase.

And when both of those came back positive,

she sent me for a bone marrow biopsy. I conveniently,

sort of conveniently, have a bunch of other medical issues, including a blood clotting disorder that runs in my family. So I had a hematologist already and was able to get that taken care of pretty quickly and got a confirmed diagnosis of indolent systemic mastocytosis.

Caroline: And so now does the dermatologist manage it, or did you move on to an allergist or what. What medical team helped you with this?

Rachael: I'm being fully honest. I kind of feel like I'm my medical team, but since I don't have a prescription pad, I do also lean on professionals who have those.

And so I see a variety of doctors. There is a specialist in Boston that I see every so often,

but I often don't make the trip out there unless it's something that I am really stuck on or feel like there's Some new treatment out there that I might be able to benefit from.

I have a local hematologist, oncologist,

my allergist. Retired, but for a while I did have an allergist. I see my dermatologist monthly for what I believe to be a comorbidity. Cause I get scalp injections. Cause I have a type of scarring alopecia, which, if you could see me, you would not believe.

I have a whole lot of big curly hair.

And several other. I'm trying to remember which other doctors. I have GI doctors.

I mean, you name it, it's. I probably have one.

Caroline: And now you mentioned you see a specialist. So is that like a mast cell specialist?

Rachael: The doctor in Boston is an allergist, immunologist who does specialize in mast cell diseases and is part of the Brigham and Women's center of Excellence for mastocytosis, I believe. Or I think that's the title.

I have probably haven't seen her. I don't think I've seen her since before COVID at this point. So it's been quite a while.

And then my local doctor, who's a hematologist, oncologist. I see him a couple times a year. Is he an expert? I think he has one other patient maybe who has mastocytosis and a number of patients who have MCAs.

I often feel like I am my own specialist in those cases. When I want a new medication, I do all my own research, and then I bring him the documentation.

I'm like, here's what you're gonna put me on. And here's why that has kind of worked, to be honest. 

Caroline: Right. Cause then you talk it through, and they call it shared decision making. Right. Where you're working together on getting the plan.

So now, when you were first diagn diagnosed, what did that feel like? Like, was it overwhelming? Like, here comes this new condition. And, you know, it's only recently, really, that I think we're getting more familiar with.

Rachael: Was really overwhelming. It was hard to find a specialist to see. I live between.

I live closer to Philadelphia, but I live between Philadelphia and New York City, which are like two of the major medical hubs in the country.

And it still felt hard to find a doctor, which I didn't expect to end up with something where that would be the case. The doctor that I ended up seeing was at University of Pen,

an expert on the topic.

I think that they might have had one or two other patients and they had some inaccurate information and told me that there was like a 30% chance of me getting an incurable form of cancer and dying.

And I was 21,

about to finish my college degree. I was ready to, like, drop out of school and go travel the world and follow my dreams because I was like, well, if I'm going to get this, I might as well, like, live my best life now.

Thankfully, I eventually,

shortly after, within a couple of months, I think, sort of finding more information from the mast cell disease society and went to one of their conferences about a year or two later.

And that really helped, I feel, put me in the right direction as to getting more accurate information. And it was the first time I'd met anybody who had the same disease as me.

And, like, that started kind of opening up some doors to kind of better understanding what was happening.

Caroline: I mean, we all know, like, just even from the food allergy standpoint, it can feel very isolating. You know, when you get this condition and this disease that you don't know how to handle it, and you don't know anybody with it.

Once you got diagnosed,

how did you talk to people about it? Like, how did you explain it? Because it's so different.

Rachael: It is.

It's gone through many versions in like, the last of almost,

I guess, more than 15 years now. And I remember, like, trying to craft it with my therapist at the time because I was like, you know, there was. There's so much to mast cell diseases.

There's a lot of people who. Who think, like, oh, if I tell them I have a sensitivity to something, that that's the only thing that's actually wrong with me, when really it's like the very, very tip of a much larger iceberg.

And so it's like, I've gone through all these phases of being like, what do people actually need to know in order to keep me safe? Rather than, like, me wanting to be a nerd and word vomit.

Everything I know about mast cell diseases, which at this point is quite a lot, so I've kind of, like, shortened it into something that's kind of like,

more quippy and easy for people to digest. I explained that that there's a type of immune system cell called a mast cell, and they do a bunch of different things in your body.

They. It's just like,

for the record, maybe not the most scientifically accurate explanation, but it is the one that people seem to understand the best. And so I tell them that I have way too many of these cells, and they are also really dramatic and poorly behaved.

So they're basically like a bunch of drama queens running around my Body freaking out about basically normal everyday things. For me, the biggest trigger is fragrances and chemicals.

So I have to explain this to a lot of people because I basically need them to opt in to accommodating me to even spend any kind of time with them.

Or I need to do a whole bunch of things for myself to premedicate and bring a change of clothes or wear a hat to cover my hair so my hair doesn't pick up fragrances and do all these other things to make it accessible for me to be in certain spaces.

So I find myself explaining this stuff quite a lot. And then depending on the relationship that I have with someone, I go way more in depth with it or like a little bit additional.

Like,

so these, you know, these cells do things in your body. Sometimes they tell other cells in your body what to do. Sometimes they just release chemicals that have their own effects and other times these chemicals form together to form new one.

Like new chemicals that do other things in your body. And I joke about how my immune system basically goes like DEFCON1 on me randomly and I'm kind of just like, it's a grab bag of fun symptoms or like outcomes that I get and I don't usually know which one is going to hit me first.

And so like letting people know that if there is a point in which I'm like, oh, that's my masto, or this is my masto, like I'm not just making stuff up.

It's literally that long of a list that like,

you could know me for quite a while and I probably will still be telling you new things that this impacts.

Caroline: That is such a great explanation because I'm just viewing it from my food allergy standpoint, you know, where I would do the same thing. I would try to explain all of this technical stuff to the parents of my children's friends and they would just look at me like blindly.

Rachael: Their eyes glaze over. Right. Like you can see when you've lost them.

Caroline: Oh, exactly. And so you're like, okay, so let me try this differently. And once you explain things in a way that people can relate to, then they can start to get behind it and then they can be like, okay, I don't know if I fully understand this, but I can get that these mast cells are going to do something that's not going to end up well.

So I'm going to back off the perfume here.

Rachael: Yeah, I mean, and not everyone is super accommodating. I've run into a lot of folks who feel who, who, if I'm being honest, kind of treat it like I'm trying to take away their guns by asking them to, like, not wear perfume for a day or two.

Like, I have taken away a personal liberty in some fashion,

and that's unfortunate. We live in a very ableist society.

I find that explaining things to people, educating them, and, like, being able to kind of, like, find ways for them to relate to things is, like, the best way to get people to be more empathetic and accommodating.

And that really benefits not only just me, but a whole lot of people. And I've been really fortunate to be in positions, or maybe I have just kind of shoved myself into positions where I now, like, organize a bunch of stuff within my community because I wanted to go to events.

I'm really extroverted, and they weren't accessible to me. So I was like, all right, I'm going to figure out how to make this work.

And that's kind of had a byproduct of, like,

other people from other organizations have reached out for. For advice about these things. And I sometimes run into people who saw something that I had a hand in years ago, and because of that, they didn't wear fragrances.

I went to do ax throwing with a friend for their birthday, and they had invited a couple other friends, and I hadn't met most of them before,

and I don't know how it came up, but somebody mentioned my fragrance allergies. I think they were asking me if the space was okay or if it was bothering me.

And the other person I hadn't met had overheard it and was like, oh, yeah, I used to wear a ton of perfume. But then I saw this, like, camping event that I didn't even end up going to.

But they were talking about asking people not to wear fragrances and, like, heavily scented products at this camping event to make it more accessible. And I had no idea that that could hurt people.

So I just kind of, like, stopped wearing it out in public.

I had gone to that event and basically harassed the people running it into doing that. And four or five years later, I was able to, like, be somewhere in a more accessible fashion because of that.

Caroline: That is such a fantastic story because, again, the more we know,

the better we can do as humans, because we all want to live happily together, but if we don't have information, then we don't know quite what to do with it.

And, you know, your voice, obviously, is making a difference.

And so now, speaking of your voice, so what is it like in your daily life? Like, you know, you. You get up and how has your life now been impacted by this?

And then do you have any tips for our listeners?

Rachael: Um, so my life has been affected in,

honestly, countless ways. Um, I think my life would look very different if I didn't have mastocytosis. And that said, I still also live a really great life. I am on SSDI.

I was. I had been fighting for between, like, 2017 and 2021, and. And then was finally granted it, not without a lot of back and forth. It's not a easy system for anybody to get through.

So a day in my life kind of varies a lot, and I do feel like my life would totally look very different if I didn't have mastocytosis.

But it's also, like, I have found a lot of quality of life within the limitations that I do have.

I am on Social Security disability, which SSDI for, like, the last few years. And that does impact how you're able to work or,

like, how much money you can earn and stuff like that without losing health care. But it's a. Government stuff is complicated. That said, I do a lot of volunteer work and I.

I have a ton of adhd and I love doing different things every day. So I don't have a particularly, like, set schedule, and I kind of prefer it that way.

I spend not a ton of time at my house, but during the day, I usually work from home. So, like, you got to keep it interesting. It gets boring. And so I do a variety of things.

I volunteer at a ceramic studio. I organize queer community events once a month and help organize a large queer camping trip in the fall each year.

I'm their health and accessibility director,

and I do patient advocacy work, some graphic design work,

a lot of art foster dogs. I honestly do. Maybe. I think I might have too many hobbies. I'm very into pole dancing. I've been doing that for about eight years.

And I love, like, socializing and gathering people together and, like, building community.

And so those are things I really love.

And a lot of those things probably wouldn't,

in a way, be possible if I wasn't disabled. I am in a particularly, like,

privileged position that I have a partner who financially supports me in a lot of ways because for most folks, the amount of money that you get for disability is not enough to live off of,

myself included.

And that has given me a lot of freedom to explore things that I really want, love, and feel good about. Working on and doing that's a privilege like, not a lot of folks have.

And I feel really honored to have it, and I, you know, try to give back with that time by doing a lot of volunteer work.

Caroline: So the condition has not slowed you down in any bit. It seems you just get out there and live life and talk to people and tell them what you need. And so now do you have any tips for listeners who maybe do feel that their condition has slowed them down a little bit?

Or any. Any or any tips for those of us who love someone with mastocytosis or work with someone with mastocytosis?

Rachael: So for folks who love folks with mast cell diseases in general, I would say no matter how weird the symptom they're having sounds, believe them,

nobody is making any of this up.

I feel like it has been. I'm polyamorous, so I have multiple partners, but my partner that I've. I've been with the longest, We've been together 18 years. I was. I didn't have any health issues when.

When we met. And him being such, like, a huge source of support who has just whatever weird stuff came out of my mouth, like my skin hurts or like my ears won't stop popping or some other weird symptom I've had at some point in the last 15 or 16 years.

He just believes me. And the amount of reassurance I feel like people can get from that, from, like. Like, I might be questioning my own sanity, but I know he's not.

That's a huge source of support for me and for patients or folks who have the disease or a mast cell disease who feel like they're kind of limited by it.

I feel you. There are so many times that I feel that way, too. I have. Traveling is something that brings me a lot of joy, and it is a struggle for me because it is really hard to find accessible places to stay.

I've been trying to convert an old ambulance into an RV for a few years as a solution, and it's not maybe the solution I was hoping it would be because,

well, at the moment it's in the shop, but in general, like, you know, going to hotels and staying Airbnbs, like, there's not a lot of accessibility for people, especially with those with fragrance and chemical sensitivities.

And a lot of mast cell patients have some degree of that.

I would say figure out what you can do. You know, like, if you're somebody who is comfortable organizing people, you can start your own things. It's a little bit easier in nicer weather to socialize outdoors, which makes it easier.

I am also sensitive to the sun and heat. So, like, trying to figure out how to navigate that,

I find I do a lot more socializing and like the April, May, early June, and then like the fall, because the middle of summer around here is like 97 degrees now.

But also,

you know, there's ways around that you can make sure that you bring fans or that you have a covered area or that you have a shape. Like I have a sun umbrella that I bring everywhere with me and a whole lot of sunscreen.

There are things that you can do and unfortunately they cost money because accessibility is expensive.

There's some statistics out there that are really just outrageous about how much more disabled folks have to spend to have the same quality of life as non disabled folks. And that,

you know, it comes with a certain amount of privilege to be able to access those things. But if you have access to those things or you can crowdsource them from your community,

those things can help make life easier and make you more able to socialize and like, get out of your house and live your life in ways that work for you.

Caroline: These are fantastic tips. So now, before we wrap up today, is there anything else you would like listeners to hear from you?

Rachael: I guess the mystery favorite advice to give people is that I think it's really important that we all be our own best advocates. I think that doctors come in a range of shape and sizes, and at the end of the day, I mean, some of them are wonderful, some of them could use some work on their bedside manner,

to say the least. But at the most part is they are all just fallible. Humans like trying to do their best. And we have an uncommon or a poorly understood disease or group of diseases.

And I try to remember that, like when I feel like I'm bothering my doctors with too many questions or I can tell they're getting a little frustrated with me. I try to remind them that this is their job, but this is my life and if I don't ask these questions,

nobody will. That like, it is important to me to take care of myself. It is important to me to make sure that I have the best quality of life that I can.

I am 37 now. There's like a bajillion things I want to do on a daily basis, let alone for the rest of my life. And I want to make sure that I am in the best health I can to do those things and enjoy life.

And I think that that goes a lot better when you advocate for yourself. Your doctors are your experts, so obviously don't ignore what they're saying. But it's okay to ask questions.

It's okay to ask why they've recommended a specific medication or a specific thing that they want you to do. It's okay to be like, hey, I need to understand why this is happening,

or like, I know this isn't a common side effect, but I really need you to hear that this is what's happening for me.

You know, try to find doctors, if it's possible, who treat you like a human, not a patient. And that's not always possible.

And when it's not, that means you have to advocate a little bit harder. But like,

you can do that. You are totally capable of that. And sometimes if you really struggle with that, because I did for a while is I kind of picture what it would be like if a friend was sitting there and I was advocating for them.

Because that's always been way easier for me than advocating for myself.

So if you need to do something like that or bring a buddy with you,

those things can help too. But it's important that you figure out what does work so that you can advocate for your best care.

Caroline: That is amazing and terrific and rock solid advice. So thank you for sharing the advice and for sharing your story and your life with us. And most of all, thank you for your time because you are very busy doing a lot of things.

So thank you for being here with us today.

Rachael: Thank you for having me. I appreciate it.

Caroline: You're welcome.

Before we say goodbye today,

I just want to take a moment to thank Blueprint Medicines just one more time for their kind sponsorship of FAACT's Roundtable Podcast.

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