Text on Screen: It'sSMthing systemic mastocytosis logo. Systemic mastocytosis (SM) affects an estimated 32,000 people in the United States or about 0.01% of the populaiton. Sarah O. Diagnosed with Indolent Systemic Mastocytosis in 2019. Kristine G. Diagnosed with Indolent Systemic Mastocytosis in 1995.
Audio: Knocking on door.
Text on Screen: Patient Ambassadors are compensated to share their experiences on behalf of Blueprint Medicines and do not provide medical advice or discuss any specific treatment types.
Kristine: Hi Sarah
Sarah: Hi - it's so nice to see you.
Kristine: Oh, it's nice to see you too!
Sarah: Thank you
Kristine: You're welcome
Text on Screen: SM SYMPTOMS
Sarah: So, Kristine, you're the first person I've ever met that also has SM. I have other people in my life that understand. They, they know that I'm sick, but they don't truly get what it means to have this condition.
Kristine: Oh, wow. I get it. I walk in your shoes. So when I was really young, I had my first anaphylactic episode, which was very frightening. You know, and after that, you know, I always had stomach issues. A log of GI issues, pain, um diarrhea every day and I thought everybody had that. And that was just, you know, part of my life.
Sarah: So I was probably early forties when I started having symptoms. Because my symptoms were more like the eye pain and the abdominal symptoms and the extreme exhaustion, it’s like how could they possibly be connected?
Kristine: Over the years I’ve made multiple trips to E.R. because of my systemic mastocytosis, and I deal with symptoms such as itching, hives, bone pain, a lot of GI issues some inflammation in my eyes, fatigue. And my most concerning is full blown anaphylaxis.
Text on Screen: SEEKING A DIAGNOSIS
Kristine: I went from allergist to allergist. I had so many tests and nobody could figure it out. I just knew that, you know, something was wrong and these were all related. We just, you know, I just didn’t have a name for this disease. Finally this doctor said to me, “You scare me I don’t know what to do with you. I’m sending you to another facility." So, I went to this other facility with my big fat chart, and that doctor looked at my chart, listened carefully to my story and said, "I think I know what’s wrong with you." And that was just a big "aha" moment for me because I felt immense relief.
Sarah: Yeah. I would go to my general practitioner and I wasn’t getting referrals. I wasn’t getting any answers at all. And they did the prick test for just about everything under the sun. I didn’t have a single allergy come up, not a single one.
Kristine: I had the bone marrow biopsy done. It went to 17 different labs. Finally, I got the phone call that said, "it is confirmed, it’s systemic mastocytosis." I had no idea what I was dealing with, but there was definitely relief. I had a diagnosis.
Sarah: When I finally got my initial diagnosis from the dermatologist and they’re like, "You know it’s ok. It’s no big deal." My first thought was just great relief. Great. This thing has a name, but in the back of my mind, I knew something wasn’t right. So, I called the doctor and he’s like, “You have what?” And I told him, I said, "I went in for a full skin biopsy" and he’s like, "You’ve got to get in here right now." So, that’s when he started really taking it seriously, because he did know what it was. I ended up at an immunologist and he did the bone marrow biopsy and they did confirm the D816V mutation on the KIT gene as well as spindle cells.
Text on Screen: SM TRIGGERS
Sarah: I’ve learned over the years to identify and avoid triggers, such as extremes of heat and cold, spices on my food and extremes of emotion will cause some triggers. I also avoid perfumes, colognes, lotions, air fresheners, those types of things, laundry detergents.
Kristine: It took quite a while to figure out a lot of my triggers. So, it took a long time to figure out what I could safely eat. Took me a while to realize that when I get upset, I'm going to have symptoms. There are many times we're about to go somewhere and my stomach acts up. Or, I just, I'm really flushed and I'm red, and I know that nope I can't go. you know, and at those times I'm just so... I'm disappointed.
Sarah: It’s totally out of your control. And then you have a moment and it’s either embarrassing or somebody has to help you and you feel bad about it, you know? And I don’t know how to fix that because I do too, whenever someone, you know, is inconvenienced. My husband has to leave work, you know, to drive me to the E.R. or I have to say to somebody, "listen, I’m having some trouble and I just need someone to know." And then they’re worried sometimes more than they should be.
Kristine: So true. I often feel so bad when I am in the hospital and I wake up and I see these worried looks on my family’s faces. Looking down at me and you know, and as a mom, I want to take care of them. And sometimes that's not the case. Sometimes they need to take care of me.
Text on Screen: LIVING WITH SM
Kristine: Now I feel like I have a much better grip on this disease. Knowledge is power. I have a wonderful specialist who has taken great care of me. We go over all my test results. We talk about meds all the time and we tweak when needed. I have much more of a greater understanding of this disease. You know, education is key.
Sarah: I have people occasionally ask me, "You know, how do you deal with all that?" And I’m like, it’s not acceptable for me to curl up in a ball. And just feel bad for myself and, you know, wish this wasn’t happening. This is here. You can live with it. It becomes part of, you know, who you are.
Kristine: And I think you know, just that positive attitude, you know it has a huge effect on everything. I’m just so grateful every morning when I wake up. I really am.
Text on Screen: Systemic mastocytosis takes an average of 6 years to be diagnosed.* *Blueprint sponsored patient-reported outcomes among patients with systemic mastocytosis in routine clinical practice: Results of the TouchStone SM Patient Survey. The stories of these SM Ambassadors reflect their personal experiences - everyone's experience is different. Speak with your doctor if you're experiencing signs and symptoms that may be associated with systemic mastocytosis.
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