National Rare Disease Day

Good afternoon everybody! I am sorry this update came a little later than usual, I figured I combine my weekly update with a post about National Rare Disease Day. The three main diagnoses I have, MCAS, POTS, and (suspected) EDS, are all considered rare diseases. MCAS is the most common of them all, and is still incredibly misunderstood, with only 3-4 doctors in the world who are considered to be "experts" in the disease. Therefore, National Rare Disease Day means a lot to me-- care about rare!

I have included a few resources in this week's blog post in honor of National Rare Disease Day. One is an infographic about the lack of funding and awareness of rare diseases. The next one is a photo collage which just shows a glimpse of my life with a trio of rare diseases. The last link is a video, made by another Mast Cell Warrior, Taylor, which me and a few friends are in. Please take a look at these resources and share on social media!

Now, for this week's update! Things are still going really well on the Gleevec. I am not reacting to the medication anymore, and I have been functioning! I was able to get out of town for the weekend, which was absolutely incredible. I haven't been able to go on vacation since August, so it was a welcome break and change in pace. It is affecting my potassium and my red blood cell count, so I am making sure I am getting my blood counts monitored every two weeks, and adding in some additional supplements.

At Monterey Bay Aquarium, one of my favorite places!

In addition, I had my appointment last week at the Dysautonomia Clinic at Stanford. The first hour and a half was autonomic testing, which was not a pleasant experience. The testing showed, that even with skipping only one dose of my medication, I have POTS, which is no surprise. Luckily, the testing only showed mild elevations, so it wasn't too torturous for me. This means that the medication I am taking for my POTS is working! More good news from that-- I am going to try to switch from IV Hydration three times a week to oral hydration, 2-4 L a day, plus a high salt diet and salt tablets. It will require a little extra effort on my part, but will allow me an extra 4+ hours a week of free time. This will be helpful, given that I am going to be increasing the amount of online courses beginning Mid-March.

Lastly, I got some questions about the photo above because of the lovely boot on my left foot. Well, thanks to the lovely suspected EDS, I sprained my ankle at the grocery store just walking. I got it checked out today, and got upgraded to a fancy air cast. Ironically on Rare Disease Day! I will be stuck in it for about 4 weeks, then a brace and physical therapy. A small cost to pay, I am still just overjoyed with the fact I am having some relief of my mast cell symptoms.

Nothing else too exciting in this upcoming week, I have my follow up with the Mast Cell Specialist in San Diego March 10th. Have a great week everybody, and Happy National Rare Disease Day! Care about rare, and spread the word!

Finally, some relief!

Hi everybody! I hope you had a lovely rainy week! Good news to report for this week-- I am finally starting to get some relief! Last week, I mentioned that I thought that I was reacting to the Gleevec, since I was having symptoms twice a day every time I took the medication. I heard back from my Mast Cell Specialist mid last week, and they gave me permission to try to soak the coating off the medication (shout out to those of you online who recommended asking about this!) Before taking the medication, I now place the pill in a small amount of water at room temperature, and stir until the coating appears to be mostly off. It is kind of a pain, but a sacrifice I am more than willing to make!

Since I began this new soaking protocol, I have had a maximum of 25 mg of Benadryl a day, which is a record for me! I haven't had that little Benadryl a day in months, and I am even due for Xolair on Wednesday. I have been a little more symptomatic today, but now I am just complaining too easily!

Now, for this week, tomorrow I have a day off from the Infusion Center because of the holiday. On Tuesday, I have the appointment at Stanford's Dysautonomia Clinic, which I have been waiting a while on. My POTS has been largely under control unless I am in a Mast Cell Flare, so I am not sure if the testing will show anything. Saline infusions three times a week and a medication called Corlanor have been keeping my heart rate under control, when both standing and sitting (for the most part). Regardless, this is a good appointment to have, and it can't hurt to get another opinion to make sure we are on the right track and protocol.

My next big appointment after that isn't until March 10th, which is back in San Diego with my mast cell specialist. This appointment will be to discuss the Gleevec, see how it is working, and discuss the game plan from there. Right now, my main question for that appointment is to see if there is a way to get the Gleevec compounded, or if I should try another generic to see if I can avoid the soaking protocol, but again, as long as I am getting some relief from the medication, I will happily deal with the soaking.

It has been really nice to be able to finally do a positive update with some relief and encouraging news! I hope updates to come are all like this :) Have a fantastic week everybody!

How did this all begin?

Hi everybody! I hope you had a fantastic weekend. Time for my usual end of the week update. Thank you for all of the love, support and outreach from last week's post. I certainly felt the love! I was discharged last Tuesday morning, just in time for my Xolair. Things by Sunday night had finally started to calm down, and they were able to switch me back to oral steroids by Monday night. Xolair went well, I had no swelling at all (which is the first in a long time!) I honestly think it was because my steroid dose is SO high, but I will take any improvement I can get.

Since being discharged from the hospital, not much has changed. Unfortunately, I have not been seeing the improvement I was hoping for on the Gleevec. However, I only JUST reached what my standard dosing should be last night. I am still concerned I might be reacting to an ingredient in the Gleevec. I have been more reactive since doubling my dose last night, which is why I have an inkling about the fillers in the Gleevec. I have a message into my doctor to discuss my options and where to go from here. I am not going to lie, I am disappointed and discouraged, but I am trying to remain optimistic until I feel like we have exhausted all options here. In addition, I have an appointment in about ten days at the Dysautonomia Clinic at Stanford, to see if they have any additional suggestions to help control my POTS (Postural Orthostatic Tachycardia Syndrome). However, these symptoms have been under control, unless I am in a mast cell flare.

Regardless, I have had a good few days. I was able to be more up and active yesterday, and spend some time with some lovely family (shoutout to Grandma and Grandpa, Uncle Mel and Liz!). I went to Target, which is my happy place-- I spend way too much there, but there is too much not to love! I was able to bake some Valentine's treats last night, and I finished an Olaf rug hooking this morning. For those of you who don't know who Olaf is, he is a snowman from the Disney movie Frozen- he is my favorite character. Happy go lucky, and always remaining optimistic, something I am working REALLY hard to do.

Since I don't have any major updates at the moment, I figured I would go back for a moment and discuss how this whole MCAS journey started. For those of you who have followed me since the Peanut Puppy Days, this will sound familiar. When I was in my Freshman year of college, I had known since my early adolescence that I had a mild peanut allergy. Positive skin test, negative blood. I would get itchy if I touched peanuts, but I could be around them, and I was never careful about any sort of cross contamination. I would maybe get a headache if they were being shelled next to me, but nothing crazy. Every day, at the exact same time, I had been eating a protein bar with "peanut flour" listed as the last ingredient on the list. I knew it was there, but since it wasn't causing any problems, I asked my doctor after the peanut allergy diagnosis if I could continue eating them. They told me that as long as I wasn't having any issues, I could continue eating them.

Come Winter Break (still Freshman year of college), I got lazy and stopped waking up in time to eat them. I also ran out, as they temporarily stopped production of them. Two weeks into second semester, I was hungry in class, and I had a bar in my backpack. I will never forget that first anaphylactic episode. I was in my Introduction to Western Religious Traditions Class, and my throat started to get really itchy. Before I knew it, I was coughing and couldn't stop. I happened to have my EpiPen on me, but I normally didn't. I had my inhaler and used it, but was too afraid to use my EpiPen. I didn't carry any Benadryl on me at the time.

I asked the teacher if somebody who knew how to use an EpiPen could walk with me to Student Health just in case. In retrospect, I should have done the EpiPen right away, so I was lucky that I made it on the walk to Student Health. By the time I got to Student Health, I was very short of breath and having a lot of difficulty breathing. I knew I needed the Epi, but was afraid to do it. As the nurse set up a nebulizer breathing treatment for me, I handed her the EpiPen. She handed it back to me and told me that I needed to do it.

I was mortified-- I didn't want to shove a giant needle into my leg, especially when I was already feeling scared! She said she would be there in case I lost consciousness to do it, but that I needed to face my fear and be able to do it myself. I was angry at the time, but in retrospect, I am extremely grateful that she made me do it myself. I immediately felt better and was surprised at how little it hurt. I was able to recover at Student Health and go home without the hospital.

Ever since that episode, these episodes have been completely non stop. We assumed it was a peanut allergy for a while, until we realized that there was no possible way that I was being exposed to peanuts every time I was reacting. This led down to the journey of my eventual MCAS diagnosis.

Supposedly, these "trigger" events are common for MCAS patients, where some event, illness, or trauma triggers Mast Cell Activation Symptoms to begin. The current theory is that I was essentially giving myself immunotherapy every day, and stopping that triggered my body to attack peanuts like an allergy, and then eventually progressing into everything else.

Anyways, that is where I got where I am today. And obviously, I am still very much in the thick of trying to get these mast cells to calm down. I am hoping for encouraging news from my doctor this week, and an uneventful week heading into week two of my Xolair window. Have a great week everybody, and I send my love! Happy Valentine's Day too!

Not QUITE the start I was hoping for...

     Hi everybody! I hope you all had a relaxing weekend and are enjoying watching the lat few moments of the Super Bowl! So, as I discussed in my last blog post, I finally received insurance coverage to try Gleevec (imatinib), which is an oral chemotherapy medication which has shown success in some MCAS patients. I began the medication this past Wednesday. I was already in a pretty significant flare, as I was more than a week out from my last dose of Xolair (the injections I get every 2 weeks which also seem to stabilize me). However, my reactions began to get to a point where I could no longer control them at home with EpiPens, oral Steroids, and Benadryl. I had a reaction on Wednesday, used all of my home meds, and still had swelling. I was already at the infusion center getting IV Fluids, which I get three times a week through my mediport, so I got an extra dose of IV steroids. For those of you who don't know, the mediport is a disk that was surgically implanted in my chest that allows quick IV access without having to use my veins in my arms-- instead they insert the needle into this disk and are able to draw blood and give me IV medications, even ones that would burn normal veins (WikiLink Here). It has been a total lifesaver for me so far, since I got it placed in November, because my veins were getting scarred, and roll/burst due to EDS. I get it accessed (poked) three times a week for my saline infusions, plus when I am hospitalized. It in theory can remain accessed (having IV access at home), but I currently do not do so due to infection risk and trying to live as normally as possible.
     Anyways, back to this week-- my IV dose at the infusion center gave me relief until Thursday, where the same thing occurred- another EpiPen, oral steroids, and Benadryl. I went to Urgent Care, and the doctor told me that it appears that my GI tract is swollen from the mast cell activation, so I was likely not absorbing the oral medications, likely including the Gleevec. She recommended I go to the hospital for IV medication, but since I am stubborn and hate the hospital, I went back home to ride it out.
     On Friday morning, I had another saline infusion scheduled, and got another dose of IV meds. By Friday, I was exhausted and frustrated. No medications seemed to be "sticking" on me. However, I still wanted to stay home really badly, so I tried to ride it out. By Friday night, I had tried everything, including breathing treatments, so I made the decision with my family to go to the ER. I was admitted Friday night, and remain here for IV Fluids, Benadryl, Steroids, and other antihistamines around the clock. We are essentially waiting for the inflammation in my body to calm down so we can get to the point where I can absorb the Gleevec and actually give it a chance to work.
    Although this was certainly not how I was hoping the Gleevec treatment would start, I am not giving up yet. I am scheduled for Xolair Tuesday. I am hoping that once I get the Xolair, and with the meds I am currently getting, I will be able to actually give the Gleevec a chance to work. I should be able to tell if it is working in two weeks or so. Not going to lie, being in the hospital SUCKS. Its loud, there is no privacy, its uncomfortable, and I am the youngest person on the unit by a solid 20 years. However, if this is what is necessary to get the Gleevec to work, I will absolutely do it. I am hoping that it isn't the Gleevec that I am reacting to, but rather the Xolair wearing off and the Gleevec beginning to interact with the mast cells. If it is the Gleevec causing the problem, I will have to go back and talk to my doctor to see if I can try the brand name drug instead of a generic, which would involve fighting the insurance again, or if I need to give up on the Gleevec entirely. Fingers crossed the Xolair will let it work.
     Today seems to be a better day than yesterday-- the swelling is less, and not impacting my airway-- only itching in my throat, no swelling. My asthma symptoms are gone. So, I am hoping for discharge tomorrow, and if not tomorrow, then they should release me Tuesday for Xolair. I have to give a shoutout to my family-- they have been incredibly supportive and helpful for me. They have been visiting me daily, bringing me clothes, food, etc. I have been entertaining myself with rug hooking, online tutoring, and working on my online class. This has reaffirmed my decision to stay home for the semester-- there is no way I could have done any of this at school. I am working as hard as I can to maintain positivity, and stay relaxed, because I know that being frustrated won't help anything. In the mean time, that means rest, relaxation, food, and waiting for the medication to do its job. I apologize for my semi-rantish post, but it's my current scenario, and my current "job" is to try to make the best of what I can out of it. Getting to write it here helps me process it and assure myself that I am doing the right thing.
    Anyways, I will post again some time over the next few days, I don't want to get too annoying by posting super often. I hope you all have a great week, and I send my love! Again, as always, if you want to receive my posts to your email, please hit the "subscribe" button.

Little bit of hospital humor to leave you with, was entertaining for 10 minutes today-- I went for a walk, and this was happening in the hallway. These are TUGS, automated robots that go around the hospital. Today, 2 of them got stuck, and were in a stalemate for 10 minutes until IT could over ride it. They also talk, and were telling each other they were in the way.