Monoclonal Mast Cell Activation Syndrome - the long road to a diagnosis
Y'all know by now that I don't have "short versions" of my stories.
July 4, 2020. Covid life had been going on 4 or 5 months by this point. We were spending a few days at a condo on the beach at Seabrook Island as a 6th anniversary trip. We spent probably half the day on the beach under an umbrella, still in the sweltering heat. It was our first trip since the pandemic started, so we were trying to figure out the whole being in public during a pandemic thing. Fortunately it's easy to social distance from people on the beach. I was drinking lots of water all day to try to stay hydrated. I hadn't been drinking alcohol at all. We came in from the beach, relaxed and cooled off from the heat, I took a shower, and we decided to go somewhere close for dinner. Seabrook has an island speed limit of 25 MPH, and even the closest food is off the island.
Within about 5 minutes of leaving the condo, my hands and feet started itching, which I thought was weird, but I just tried to ignore it. But then nausea hit and I just had this weird sense of impending doom that I can't even really explain. I finally told Alex that something was very much not right. He asked if we needed to turn around, and I said yes. As soon as we parked in front of our condo, I got out of the car and vomited everywhere. By that point, I had gotten extremely weak as well. I had no idea what was going on. Alex helped me get back in the condo, where I then went straight to the bathroom. This was all within maybe 20 minutes of the symptoms starting, if that long. Every minute felt like an hour though. While stuck in the bathroom, I took my temperature, and it was something like 94, which really freaked me out. My Apple Watch also warned me that my pulse was extremely high, which was a warning I had never seen before. I started sweating profusely, and then I was hit with wave after wave of excruciating lower abdominal pain. At that point, I didn't know if I had kidney stones, or maybe my appendix had ruptured. Nothing made sense, but I felt maybe the worse I'd felt in my life, and it had all hit so quickly. I was so weak I was almost having to crawl. There were moments I actually felt like I might die, and I suddenly had this intense feeling to fight for my life like I'd never felt before. It was terrifying.
I knew we were far from a hospital, but I didn't know how far, and I started to wonder if we should head to the hospital, but I didn't know if I would be able to make it. I felt like I was afraid to be far from a bathroom. I didn't know what might come next, because I didn't know what was happening. I finally asked Alex to call 911, which was one of the most terrifying things I'd ever had to ask him. I went from sweating to freezing, and was able to crawl into bed and get under the covers, where I started shaking uncontrollably. It took 40 minutes for the firemen and then the ambulance to show up. By that point, the pain had finally stopped, the shaking had stopped, and I felt so much better. I was embarrassed we had called them in the first place. I kept apologizing to them. They starting running all of their tests: heart monitor, blood sugar, blood pressure, etc. I need to point out that at this point, there were at least two men I'd never met before in our bedroom, while I was in bed (fortunately clothed). They were having to put heart monitors all over my body, but I felt safe. I wasn't scared, my PTSD didn't rear it's ugly head at all. It was really an incredibly light in those dark hours, and I'm so thankful for that. They were concerned with how low my blood pressure was, but otherwise everything seemed normal. I told them I thought I was ok at that point and didn't want to go to the hospital. They were concerned enough about my blood pressure that they said we still needed to go. They thought I was dehydrated, so once they got me into the ambulance, they started an IV of fluids. It took another 40 minutes to get to the closest hospital, and by that point, outside of thinking I was going to burst from all the fluids, I felt completely normal and extremely embarrassed that I was in the ER feeling completely normal, like nothing had happened at all.
The ER doctor ran a bunch of blood tests and a urine test (how many times can a woman say they absolutely know they are not pregnant and still have to have a urine test to prove it?). My white blood count was high, but he was not concerned about that. He sent me back to the condo with a prescription for Zofran, wrote it off as gastroenteritis, and told me to see my regular doctor when I got back home.
I went to see my Family Doctor when I got home. His first question was, "Is it Covid?" to which I wanted to scream, "Not everything is Covid!" since that was the time we were living in. Nothing about it matched Covid. Within 5 minutes, he decided it must have been food poisoning or a stomach bug, and he sent me home with instructions to let him know if it happened again. I've seen him for probably 10 years now, and that was the first time I'd ever felt so dismissed by him.
Three weeks later, it started again. I'd been outside watering plants, and I suddenly wanted to cover my hands in benadryl they starting itching so badly. Everything started. Same symptoms, same order, but to a much lesser degree. I was able to get a hold of Alex's boss to let him off work to come home to me. Since we knew we were so close to a hospital and the symptoms were much less severe, I decided to stay home. I called my Family Doctor and set up a virtual appointment with him to let him know "the bad thing" had happened again.
That time my doctor really tried to troubleshoot and go through all the symptoms and see how they could go together. First thing he was concerned about was the severe abdominal pain, and he wanted to start by having tests to rule things out. He got me in for an abdominal CT scan with contrast later that week.
One of the methods I'd heard was the "plug your nose" method to taste the drink less. It did not work.
The results of the colonoscopy and upper endoscopy showed a little inflammation likely caused by NSAIDs, but that was it. Great, ruled more out, but also extremely frustrating to continue to be without answers. Also, I'd like to never do that again, thank you very much.
By that point, I had been doing my own research. There's a fine line between advocating for yourself and doing your own research that ends up on some awful google rabbit trail where you decide you've got some super rare disease or that you're going to die in 2 weeks or something else completely unlikely. I was advocating and fighting for myself because no one was looking at all the symptoms together. Everything I was seeing was pointing towards me having had anaphylaxis, but nothing about the situations was the same. Nothing made sense to have set off an anaphylactic reaction. I started seeing things about Mast Cell Activation Syndrome and wondering if that could be it, but I needed to find a doctor that knew about that.
I found an allergist that's also an immunologist and set up an appointment with him. When I explained the symptoms, he confirmed I'd been having anaphylaxis. It was so validating. I finally felt like someone was seeing the whole picture. Then the question was to figure out what had set it off. He determined it couldn't have been a food allergy because I hadn't eaten before having them. He ruled out all other "normal" things that can cause anaphylaxis. He did a blood test to check for the red meat allergy that has been showing up lately. He did a skin test for environmental allergens, and confirmed that I'm allergic to basically everything that blooms outside, but nothing that would set off anaphylaxis by itself. He gave me epipens to keep with me and put me on a daily antihistamine regiment. He also took blood to determine my "baseline" Tryptase level. He said if anaphylaxis happened again, I needed to go to the lab at the hospital to have my blood drawn within a few hours to see if my Tryptase level rose by a certain percentage or more. At that point, we only knew it to be idiopathic anaphylaxis. He said something like 30% of people never find out why they have anaphylaxis, and it might never happen again. I might never know what caused it to happen. The only options left were "idiopathic anaphylaxis" meaning "We don't know what caused it," or confirming Mast Cell Activation Syndrome.
It was sort of crazy making to always feel like I was waiting. What caused it? Would it happen again? I kept seeing him every few months, but by early 2022, I had not had anaphylaxis again, and he cut down my antihistamine regiment and told me I could just see him on an as needed basis going forward. To be honest, I hadn't kept up with my epipens. I'd let them expire and wasn't always sure I knew where one was. During that appointment, he did also tell me that I needed to keep up to date epipens with me for the foreseeable future to be safe, so I did at least get new epipens and started keeping track of them again.
A few months later, Mother's Day 2022. I'd come back from a weekend with my parents and immediately gone to see the latest Marvel movie with Alex (Dr. Strange and the Multiverse of Madness, which ended up being way more like a horror movie than we ever expected). Alex dropped me off at home and then went out to get gas in his car and dinner for himself while I got ready for bed. I got in bed and quickly noticed that my hands had started itching, and that weird feeling was starting in the back of my throat. I laid there for a minute, wondering if it was real or not, and then that feeling of dread and this feeling of, "Get back out of bed NOW" came on me right as I heard the front door open and Alex get home. This time I knew exactly what was happening, and I knew what to do.
Within 5 or 10 minutes, I'd taken benadryl, gotten back into the clothes I'd worn that day, and realized I needed my epipen immediately. My doctor had told me that if I used my epipen, that meant we also needed to call 911. So, as I was quickly getting weaker, I told Alex I needed him to give me my epipen, because I'd lost all strength to give it to myself, and I told him it was time to call 911. I was able to send out a quick message to our small group for prayer and a quick text to my neighbor letting her know. I guess I didn't want her freaking out when the ambulance showed up at my house and wanted her to have a head's up if we needed someone to check on the dogs. I started vomiting and was drenched in sweat, then I used the last of my energy to make it to the bathroom in time. Next, I heard a light knocking at our front door and told Alex (who was busy on the phone with 911 and panicking worried about me). Our wonderful neighbor had come over immediately with benadryl in hand when she saw my text. I was so embarrassed, but she told me she didn't care, and she grabbed a wet washcloth and the first thing she found in our freezer and came in the bathroom to try to cool me down. She stayed with me while Alex stayed on the phone with 911. She was such a blessing.
Within minutes, there were 2 firemen in the bathroom with us, and although I could barely talk, I was apologizing to them for where they found me. I never wanted to be found on the toilet, let me tell you. They tried to take my blood pressure on both arms and couldn't get it, and right behind them came the ambulance guys to join the bathroom party. I thought the firemen just didn't know what they were doing, but I found out later that my body was going into shock, which is why they couldn't find my blood pressure, and why everyone was rushing around. The ambulance guys told me they were going to lift me up and put me on the stretcher, and when they did that, I'd get to pull my shorts back up. This whole thing could have set off my PTSD easily, but thankfully, outside of embarrassment, all I felt was safe. Feeling safe when I am that vulnerable is HUGE. It's a really, really big deal. I was so thankful for how caring and professional everyone was so that I felt so safe with them.
Because we were so much closer to a hospital and the ambulance came so quickly, I was still in the middle of the stages of anaphylaxis when the EMTs got me into the ambulance. Also, that was the first time I'd used my epipen, so I had no idea what that was going to do to me. I had no strength to lift or move myself, and the severe uterine cramping started in the ambulance. The EMT knew to give me steroids in the ambulance, and my blood pressure had gone up, which meant the epipen had kicked in. What I didn't know was that the epipen was a dose of adrenaline to kick start my body. I suddenly felt like I was in a freezer, my teeth were chattering, and I starting shaking all over. This was May, in South Carolina, and I'm a hot natured person. Also, the uterine cramping was so bad I was begging for pain meds, but they couldn't give me anything in the ambulance. So next step was to distract myself. Thus I selfied with the EMT. Hello, distraction.
When I got to the hospital, I just kept telling them they had to take my blood for my immunologist. By gosh, I wasn't going through anaphylaxis again without getting the blood tests needed to help get a diagnosis. Also, I'd never been so happy to be given a warm blanket in my life. They got my blood sent to the lab, and then I just had to wait, in the ER, in the hallway because no rooms were available, with Alex in the parking lot, worried out of his mind, not being allowed in. When an epipen is given, they are supposed to observe you for 3 hours before they can let you go home. Basically it's to make sure you don't go back into anaphylaxis again once the epipen wears off. Finally the full body shaking stopped, I no longer needed the warm blankets, and the anaphylaxis had finished running its course. So then I got to watch the ER staff, distract myself with more selfies, and wait.
Alex's Dad had come to stay with him in the parking lot. They finally let me go around 2 AM to my extremely worried husband and father in law. Over the next week I worked with the lab and my immunologist's office to make sure the correct blood test was run to get my Tryptase levels during anaphylaxis.
When the results came back, my Tryptase levels were 3.2 times higher (or 278% +2) during anaphylaxis than they had been at my baseline. In order to identify Mast Cell Activation, Tryptase levels have to be 20% + 2 higher than the baseline (my baseline was 4.6, but during anaphylaxis, it was 14.8). My immunologist said that my numbers indicated Mast Cell Activation Syndrome (MCAS), and he put me back on the antihistamine regiment I'd previously been on. I asked about further testing, because I'd read about a bone marrow test and did not want that. He said he didn't feel that was necessary, but there was a blood test that could determine if I had the CKit gene mutation. He said it wouldn't necessarily change the treatment, but depending on the results, it could give us more options down the road.
My CKit results came back as positive for the CKit gene mutation. I did way too much online research that completely freaked me out. Finally I was able to talk to my immunologist on the phone to let me know what the heck that meant. He said it confirmed Monoclonal Mast Cell Activation Syndrome, or Primary Mast Cell Activation Syndrome. He said that a negative result would have meant "polyclonal" Mast Cell Activation Syndrome. The internet uses the terms "idiopathic","non clonal", or "secondary." He actually seemed surprised by the positive results, and he said that he has not seen this very much (and he's the best or one of the best immunologists in our area). He said if I want a second opinion, there are specialists and experts in Michigan and Boston. I see him in person in about a week, and I'll most certainly go with a list of questions to help understand what all this means and where we go from here. I don't plan on making a trip up north unless my symptoms get worse or more frequent and are not being controlled as well with the medicines my doctor is familiar with.
So what does this mean now? I'm really trying to figure that out. There's not a lot of research on MCAS. I'm taking it one day at a time, trying not to let my anxieties take over, but also trying to be wise and prepared. I've gotten a medical bracelet to wear every day. I now know I HAVE to have an epipen with me ALL THE TIME. Going on a walk? Need my epipen. Running a quick errand? Not without an epipen. If I'm with someone for any period of time without Alex, I let them know where my epipen is. I've given my close neighbors keys to my house and let them know in case it starts when Alex is not home. I really don't know what I'm doing now, I've got a lot to figure out. My antihistamine regiment might keep it at bay, and I might never go into anaphylaxis again, or I might go into it again tonight. It feels so out of my control, which is so scary.
MCAS is sort of explained as this bucket of histamine. Once the bucket gets full, it overflows. Outside of anaphylaxis, it can cause general itching, swelling, headaches, wheezing, mucus buildup, fatigue, gastrointestinal symptoms, flushing, brain fog, fast heart beat, etc. Things that cause histamine levels to rise include food, stress, fragrances, exercise, insect venom, medications, infections, changes in temperature or extreme temperatures, changes in estrogen levels (like with ovulation or menstruation), etc. It's very different than having a specific allergy trigger that causes an anaphylactic episode. There's all kinds of science explaining Mast Cells and what they do, but I'm just starting to delve into that research. It's a bit overwhelming and often over my head.
The CKit mutation is not something you're born with, it comes sometime later. So I don't know how long I've had this. It's easiest to diagnose MCAS when you experience anaphylaxis. Without that, it's much harder to pin down. It's highly possible this has been building for years or has been a thing without a name for many years. I've been sensitive to fragrances and perfumes for probably 15 or more years now, to the point that I've had to have the leaders of groups I'm a part of make the area "fragrance free" because of how quickly I start feeling bad. I've always sneezed or gotten stuffy when I eat chocolate, and over time, this has made me not like chocolate. No one could ever figure out why, but turns out that chocolate is one of the foods on the high histamine list. For 20 or more years, I go through times when my hands and arms break out in itchy bumps either from being in the sun and the heat or for reasons still undetermined. My family doctor erased IBS from my records and said we have a real answer now. I was like, "Do we?" My Gastroenterologist told me that IBS is basically a diagnosis of ruling things out. So foreseeably my gastrointestinal problems do have an answer now. There still feel like there are so many unknowns.
I've been researching histamine diets and learning about foods higher in histamines versus "safe" foods that are low in histamines. I've been trying to notice every change in my body, everything that could be a "symptom" and see if I can figure out what could be causing it. Every time my hands itch even a little, I start to panic (they are itching now and a bit swollen, matter of fact). I'm probably a bit over the top right now trying to figure out too much at one time.
My immunologist told me that I need to live my life, try not to let this stop me, just make sure I am prepared. He said this should not shorten my life. He also said that this should not cause problems during a pregnancy or keep me from getting pregnant. However, I have done some additional research on that, and since I have severe uterine contractions during anaphylaxis, that could be very dangerous during a pregnancy. Since it was almost 2 years between my last 2 episodes of anaphylaxis, hopefully that won't even come up during a pregnancy.
Part of PTSD is feeling the need to have control of every environment I'm in so that I never feel out of control, because when I feel out of control, my brain equates it to trauma. MCAS feels so out of my control. My anxiety has been so high. But on the other side of things, I've really been contemplating the preciousness of life. Of living. As someone who also struggles with depression, I have never been suicidal, but I have had the thoughts, and I have gone through periods where I just didn't even want to live. But during that first episode of anaphylaxis, and the two since, I felt like I was actually facing death, and I realized how much I want to live. The depression is still something I fight everyday, but the thoughts of death and dying have been significantly less. I have had this stronger desire to live. To live to the fullest. To do the things I want to do and stop worrying about what others will think. I've gotten more piercings I've wanted, I got a tattoo I'd been planning for years, designed from the flowers that were in Alex's and my wedding. I've added blonde and purple streaks to my hair. I've planned more trips, more time off work, more time with friends. I've used emotion words with people more, said the words "I love you" more frequently, hugged more, let myself cry more. I've always been keenly aware that I'm not promised tomorrow, but now it's even more real. I need to just live. But also, I need to live well. I need to take care of myself. Learn to rest. Learn to say "no" when it's not healthy to keep saying "yes" to everything. Learn what really matters and what doesn't.
I know I'm not promised tomorrow, but I am promised eternity. Whether I live or die, let it be for Christ. Let me love more like Christ loves us. Let me be less afraid to be the hands and feet of Jesus to those around me.
I am actually really thankful for my anaphylactic episodes, specifically the last one. Without them, and without the last one where we were able to get blood results during anaphylaxis, it would have taken much longer to get a diagnosis. Now I know what is going on, and I also know how important it is that I be prepared all the time. Before this last time, I had let my guard down, I had stopped being prepared. It could have put me in a really bad situation. I am thankful I've been in safe places when these have happened, I have been able to get the help I've needed, and I've been able to learn the signs and the patterns to be able to better handle it in the future. As I become more familiar with the reactions my body has, I will continue to be more prepared and be more able to make changes in my own life to control the symptoms as best I can.
"For to me, living means living for Christ, and dying is even better. But if I live, I can do more fruitful work for Christ. So I really don’t know which is better. I’m torn between two desires: I long to go and be with Christ, which would be far better for me. But for your sakes, it is better that I continue to live. Knowing this, I am convinced that I will remain alive so I can continue to help all of you grow and experience the joy of your faith." Philippians 1:21-25
"You saw me before I was born. Every day of my life was recorded in your book. Every moment was laid out before a single day had passed." Psalm 139:16
"The Lord directs the steps of the godly. He delights in every detail of their lives. Though they stumble, they will never fall, for the Lord holds them by the hand." Psalm 37: 23-24
"We can make our plans, but the Lord determines our steps." Proverbs 16:9
Next up....hopefully I'll remember to provide an update to our fertility journey. Or get back to those posts I've been trying to write about counseling and that journey......
Some resources about MCAS, for me to have for later just as much as for anyone else who wants to check them out.
https://www.aaaai.org/conditions-treatments/related-conditions/mcas
https://tmsforacure.org/overview/
https://www.mp.pl/paim/issue/article/15212/
https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome
