Time to give the Gleevec a go!

Hi everybody, I hope you had a great weekend! Sorry it has been a while since I last posted. I have been working on a cupcake rug hooking kit, which I just finished today! I have been in a moderate flare for the last 2-3 weeks, but I think I may be finally on the tail end of it. It has been requiring Benadryl pretty much daily, but no EpiPens or ER (Thanks Xolair). I also have been working on the online courses I am taking so I can still graduate with my class next Spring. I am currently taking an Educational Psychology course, and beginning at the end of March, I will be starting a class about contemporary health issues, and one about special education. I am really excited for both, as they are not topics that I could ordinarily take course in at Pitzer. I was pleasantly surprised that I was able to find a program that I was able to get credit approval for, and so far, the work load has been VERY manageable.

More good news today-- I got a call this morning from my allergist's office, located in San Diego. Last Friday, the doctor spoke to my insurance company, and was able to get them to approve the generic Gleevec medication for me! This is the oral chemotherapy drug, also known as imatinib, which has shown some promising results in many MCAS patients (Wikipedia link here). I will be starting it tomorrow, assuming the shipment comes in the morning.From the people I have spoken with who have taken this medication, they have all said that they knew pretty quickly if they tolerate the medication, and if it will help, sometimes even within a week. I will start off with 100 mg a day for a week, have some lab tests done, and then increase it to 200 mg. I am not expected to have any major side effects, including hair loss. I have been really self conscious of my appearance, as the prednisone I have been having to take daily not only has immunosuppressant side effects, but also gives me a "moon face" and excessive body hair growth (I say I feel like a fat hairy yeti). With starting the Gleevec, I do have to have my blood cell and liver counts monitored, and continue to be careful to not get sick, so if you have a virus, please keep your distance! I will not be offended if you have to cancel because you're feeling under the weather.

I am optimistic that this medication will help, and I really hope that it is stabilizing. Only time will tell, and my fingers will remain crossed. I am really relieved that the insurance approved it, and looking forward to seeing the medication's effects. Regardless, I am scheduled to get Xolair next Tuesday. In a month, I still have my appointment scheduled at the Stanford Dysautonomia Clinic, and I will be booking appointments tomorrow to follow up with the mast cell doctor and the neurologist who diagnosed me with EDS and POTS. I will keep you all posted on how I do with the Gleevec!

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Thank G-d for Xolair!

     Hi everybody! Time for a weekly post-- let's see how long I can keep this up for. If you want to get these posts regularly, make sure you subscribe, on the right hand side or at the bottom. Today marks a week since my last dose of Xolair. I briefly discussed Xolair, or omalizumab, in my last post, but it is what is known as an igE mediator (Wiki page about Xolair here). igE antibodies are the allergic antibodies that respond to standard allergic triggers, like pollens, foods, etc. And although my condition, MCAS, is not a typical igE allergy, it seems to respond through an unknown mechanism. For patients receiving Xolair for standard igE based allergies, they normally only have to get it every 4 weeks, and it lasts in their system for months after each injection. For MCAS patients, again for an unknown reason, it seems to only last 2 weeks or less. For me, this has caused significant problems. I tend to flare around the 1 and  1/2 week point, even on the highest doses of Xolair. Additionally, I feel the effects of Xolair by the next day, which is also generally unusual/unheard of. When I am in that first week/week and a half window, I feel a lot better, and my energy is significantly improved. I generally respond better to epi pens and treatment in general when I do have to use them.
     Since I got my injection last Tuesday, things have generally been good. No epi pens, no ER trips. However, I have been having a flare up on and off since Friday, which hasn't been fun. I had some ice cream which was supposed to be safe, but I have a feeling that it was the cookie dough that they put on top that may have been cross contaminated. Ever since then, I have flared each morning. I also started a new supplement, and reduced my steroid (prednisone) dosage, so I think it is a cascade of all three variables at the same time causing me problems. Yesterday, I had my normal saline infusion, and they were able to give me IV Benadryl for my swelling (angioedema) then. Today, the swelling is better, but I am still having some mild throat itching and tongue swelling (minor) that is coming and going. So, its a lazy day in bed again for me, accompanied by the well known Benadryl brain fog. I have to take it easy physically, or I risk triggering mast cell degranulation.
     I am still waiting to hear back from the manufacturer about Gleevec, or imatinib, the oral chemotherapy medication that my doctor wants me to try to see if it helps my MCAS (Wiki page about Gleevec here). Gleevec is known as a tyrosine-kinase inhibitor, and is typically used for Leukemia. However, if has been shown at a very low dose to help in quite a few MCAS patients, because of inhibition of the mast cells. Because a generic was only recently released, and the complex mechanism by which it works, it is EXTREMELY expensive, upwards of $140,000 a year-- why I absolutely have to get the financial assistance in order to take the medication. My insurance rejected my request for the medication. I really hope that they are able to approve me for their financial assistance program-- I have heard quite a few success stories about it, and I would love the opportunity to give the medication a try and see if it can bring me some more sustained relief.  Fingers crossed for approval! I will post in the links section a blog post written by another MCAS patient about her experience with Gleevec.
    I also hope this mini flare ends soon, so I can enjoy my time before the Xolair fully wears off. I have another dose scheduled for a week from today. Anyways, I will post again next week! Have a great week everybody!

What are MCAS, POTS, and EDS?

Welcome!

Hey everybody! Welcome to my new blog! I decided to name it "ABCD MCAS what? Arielle's Journey with MCAS, POTS, and EDS," because ever since my formal diagnosis of all three conditions in December, my world has been filled with all of these acronyms (in addition to many more). I feel like by now I have pretty much covered every letter of the alphabet. The purpose of this blog is multifaceted. Primarily, I hope to use this blog as a way to help me cope with taking some time off of school. I just finished my first semester of my junior year at Pitzer College in Claremont, CA. Pitzer College was my dream school, and I am proud to be a student there. I am studying Psychology and Sociology, with hopes of eventually obtaining a Master's in Social Work, and working in a medical or educational setting as an advocate. I am taking this semester, Spring 2017, off in order to get my health sorted out, and hopefully improved. Additionally, I hope to utilize this blog as a way to educate others on MCAS, POTS, and EDS, and how it dramatically affects patients' quality and way of living life depending on symptoms and treatment responses. Lastly, I am hoping that this blog will help keep those who are interested in following my treatment journey updated in an organized and cohesive manner. I am very intentionally keeping this separate from my Facebook, as I don't want it to be taken over by my current medical scenario, as the rest of my life seemingly has been. I plan on posting a link every once in a while just to keep everybody in the loop and attract new readers, but otherwise keeping them independent.

For this initial blog post, I will give you all some basic info on MCAS, POTS, and EDS, and my current treatment plan. I hope that it is informative, and not too sleep inducing!

What is MCAS, and how did you get diagnosed?

The primary condition which I am coping with is Mast Cell Activation Syndrome, or MCAS. Mast Cell Activation Syndrome is a condition in which the mast cells, which are a type of white blood cell produced in the bone marrow, inappropriately release chemicals known as mediators (Wikipage about MCAS Here). Mast cell mediators include histamines, leukotrienes, heparin, and hundreds of other chemicals which have yet to be identified or measured in laboratory tests. MCAS is different from mastocytosis, which produces similar symptoms, but is instead caused by too many mast cells, as opposed to mast cells acting inappropriately (Information about Mast Cells Here). For me, MCAS causes severe, debilitating symptoms that often result in anaphylactic shock/anaphylactoid reactions. I am almost never without some type of symptom. They range from things as mild as skin burning, or itching, all the way up to swelling of my airway and anaphylaxis. I carry Benadryl, Prednisone (a steroid), and EpiPens and inhalers for emergencies. Some people have clear triggers for their MCAS, while others don't. I have a few triggers that are known, like peanut and coconut, in addition to many triggers that have yet to be identified, or triggers for my POTS (to be discussed later).

I was diagnosed with MCAS in July 2016, from a physician who specializes in it based out of Scripps Clinic in La Jolla, CA. I was referred to this physician by my primary allergist, who is extremely intelligent and well versed in allergy, but Mast Cell Activation Syndrome treatment is complicated by the fact that it is a relatively new diagnosis (within the last 20 years), and not well known by many, if not most allergists or physicians in general. MCAS was actually brought to my attention by a dear friend who I am forever grateful to for mentioning to me. Although my first round of labs were negative, the MCAS physician was confident in my diagnosis based on my symptoms and response to high doses of antihistamines.

To confirm the diagnosis, we proceeded with another round of laboratory testing. Something that is very common with MCAS laboratory testing and diagnosis is having to repeat labs (About MCAS Laboratory Testing). There is only one lab in the country which is capable of running the specific mast cell tests, which include urine n-methylhistamine, prostaglandins, leukotrine E4, etc. (see, more letters!). These tests are temperature sensitive, and must be kept refrigerated and/or frozen for the ENTIRE journey to the lab, or the results are completely invalidated. Therefore, it often takes multiple attempts to get reliable, positive lab results to confirm a mast cell diagnosis. Finally, in September 2016, I got a positive urine n-methylhistamine test, which showed that despite being on medications that are supposed to reduce the degranulation, or release of mast cell mediators, including histamine.

Because MCAS is such a new diagnosis, there are treatment options available, but no given treatment plan or regimen that can be applied universally. Therefore, for many patients, including myself, it is a long process of trial and error to find a treatment that will work. And unfortunately, once patients find a treatment that works, there is no telling how long that it will work before another flare, or a change in sensitive. MCAS patients often have varying sensitivities and triggers- something may be fine one day, and almost kill them the next. This is also true for many medications-- fillers and coatings often trigger reactions, making it hard to know if an MCAS patient is allergic to a medication or a filler/other ingredient.

The first line of treatment is antihistamines, or H1 and H2 blockers. H1 blockers are medications that you would typically associate with allergy treatment, like Allegra, Zyrtec, and Benadryl, while H2 blockers are typically associated with GI symptoms, like Pepcid and Zantac. I have been on these medications since long before my MCAS diagnosis for general allergy symptoms, so we knew we had to escalate to the next line of treatment with my MCAS diagnosis. Next, we added cromolyn sodium, which is a mast cell mediator medication. Cromolyn is supposed to reduce the degranulation, or release of mast cell mediators, like histamines. For those of you who have been with me close to meal times, this is the medication that I take 30 minutes before I eat. It comes in small clear vials, and I squirt it into 8 oz of water, and drink it to coat my stomach before eating. The cromolyn has helped my GI symptoms, and help prevent food related reactions, but as well all know, I am still EXTREMELY symptomatic. Additionally, I have been on Xolair, which is an injection I receive every 2 weeks, for about a year and a half. This has been shown to be helpful in many MCAS patients, however, it only appears to last in my system for about a week to a week and a half. I also take Prednisone currently, which is a steroid/anti-inflammatory drug. However, it also suppresses my immune system, which makes me even more so of a germaphobe than I already am.

This brings me to where I am now. In December, I saw another physician, a neurologist, at Scripps Clinic in La Jolla, who diagnosed me with POTS and EDS (I will get to those in a bit). This physician did a very thorough exam, and ran 30+ vials of lab work to evaluate whether there may be an autoimmune cause of my MCAS symptoms. Unfortunately, we weren't able to identify any  autoimmune cause, but he was able to identify a variety of mutations/deficiencies to try to treat my MCAS and other conditions. We have added on a natural anti-inflammatory medication, Quercentin, as well as a variety of vitamins and minerals to try to address the mutations and deficiencies identified in the lab work. I am currently working with the mast cell physician to try to identify and secure more treatment options to get my MCAS under control, as I spent most of December in the hospital. The current belief is that my MCAS is being fueled by my POTS being out of control (again, I will explain that shortly). 

There are a few treatment options we are currently exploring. The primary option is actually a chemotherapy drug typically used for the treatment of Leukemia, Gleevec. It has been successful in low doses in many patients with MCAS, who are negative for a genetic mutation like myself, known as CKIT. It is used at a lower dose in MCAS patients in comparison to cancer patients, and has been shown to have minimal side effects. However, my lovely insurance company currently is refusing to pay for the treatment, and it is a few hundred thousand dollars a year. I submitted an application for patient assistance to the manufacturer, Novartis, last week, and I am currently waiting to hear back. We are hoping to have some luck there, as treatment results look promising from Gleevec. If that doesn't work, my next options are a CDI (continuous diphenhydramine infusion, or continuous Benadryl drip, which is not ideal and another acronym), or some other options yet to be identified.

What are POTS and EDS?

Finally, at the second and third acronyms, POTS and EDS. So POTS stands for Postural Orthostatic Tachycardia Syndrome. Basically, what that means is that when I sit or stand up, my heart rate inappropriately climbs too high. It is a form of dysautonomia, which is a disconnect between the brain and the autonomic nervous system. EDS stands for Ehlers Danlos Syndrome, which is a genetic condition which causes hyper mobility of the joints and skin.  My resting heart rate was already really high, close to 90/95 resting even though I wasn't in terrible shape. When I stood up, especially when symptomatic, my heart rate would climb to the 130s/140s. It also would cause dizziness and lightheadedness, which I had dismissed as a side effect to medications. It turns out that POTS, MCAS, and EDS (Ehler Danlos Syndrome) co occur in most MCAS patients. As I said earlier, the neurologist at Scripps was able to diagnose me with POTS and EDS with a very through physical exam. In order to treat my condition currently, we are working on treating the POTS and MCAS aggressively, as they feed off of one another. Luckily, my EDS seems to be very mild. My Mast Cell Physician wrote a great article about the combination of MCAS and POTS, which I will include the link to here. The way they are treating my POTS currently is the start of a heart medication, which has already lowered my resting heart rate considerably, and through saline infusions. I am now receiving infusions of a liter of normal saline (salt water) three times a week to keep my resting heart rate down, and to try to help the MCAS as well. It is time consuming, but seems to be helping. Back in early November, I had a PowerPort put into my chest, which is used three times a week for my saline infusions. The PowerPort has helped IMMENSELY-- I don't know what I would do without it. It is a small metal disk that is implanted under my skin in my chest, that allows for immediate central IV access with one poke. Because of the EDS, my veins roll, slip, and rupture from normal IVs and blood draws. Having the port allows nurses and doctors to have quick, central venous access without having to poke me more than once. For each saline infusion, I go to the doctor's office, they poke my port once, have immediate IV access, infuse the liter of saline over an hour, and then disconnect me. When I have to go to the ER, they are able to get central venous access immediately, which takes a significant amount of stress off of me too. 

Almost done!

You made it through my whole first post! Congratulations, it was much longer than I had originally anticipated. Anyways, thank you for your patience and time. I look forward to getting to share more information and updates with you. I tried to include as many informative links on here as I could, and eventually, I will make an appendix that has an abundance of informative links and info. Additionally, I am looking forward to posting more updates and info about chronic illness related topics such as spoon theory, navigating academic contexts, etc. Please please please reach out to me if you have any questions, comments, concerns. If you would like to receive updates whenever I post a new update, make sure to hit "Follow!" I love chatting, and have plenty of time on my hands now! Have a great rest of your weekend <3

<3 Ari

Me without Prednisone cheeks before my big flare! Photo from June 2016