Saturday, February 17, 2018

Snowboarding, Dissertation Proposal, and Genetic Testing, Oh My!

Snowboarding: CHECK

Dissertation Proposal: CHECK

Genetic Testing: Coming soon!

Last weekend, Nick and I (and Leni) met my parents at Wisp in MD to go snowboarding. Tuesday I defended my dissertation proposal, and my parents are coming to Ohio this weekend to be here for genetic testing next week. Always a whirlwind in Bokatopia!

First up, SNOWBOARDING!!! We hadn't gone in over 2 years. I was both excited and nervous going in. I was super excited because I love snowboarding, and I had missed it. I was nervous because part of the reason we hadn't gone was because I was having so many issues with my balance and coordination and muscle weakness that there was no way I would have been able to snowboard. Even though I've made a ton of progress in PT, I couldn't help but wonder if the muscle memory would come back or whether my coordination would hold up to be able to actually snowboard.

Plus, it meant I had to be away from Leni for extended periods of time. Not having her by me to alert while also adding in 2 known triggers (cold weather and physical exertion) definitely made me a bit nervous, too. Thankfully, ski patrol had agreed to let me crate Leni with them so she was close enough for me to check in with in between runs (this didn't work as well as we hoped, but I'll go into that in more detail in a separate post).

I was able to do 1-2 runs before needing a break which let me check in with Leni while let my body recover a bit. The muscle memory came back way faster than I expected, and I only had a couple of minor falls! It was almost 40 degrees, overcast, and the snow was great. I don't think we could have asked for better conditions. All in all, it was a very successful day!

We got back from Wisp Sunday afternoon, and Monday was spent finishing my presentation for my dissertation proposal. I've been really struggling with brain fog and medications impacting my ability to think clearly and process information as well as having memory and comprehension issues. Thankfully, I was given some suggestions as to how to work around these issues that has helped more than I expected. I surprised myself with how confident I felt going in to my proposal this week, and I'm hoping these new writing strategies continue working. My proposal on Tuesday went great, and I'm one more step closer to graduation!

Last up for this post (and the near future) is genetic testing next week. My parents are heading out this weekend to be here to go to my appointment with me. My geneticist was able to find a company willing to do whole exome sequencing for me and my parents, which is an incredibly huge blessing! Exome sequencing is incredibly expensive, time consuming, and almost always denied by insurance. My insurance denied it, but an independent company approved a grant for it to be done without needing insurance approval! All 3 of us (my mom, dad, and me) will be having the testing done. This will provide a "baseline" for comparison. If there is a specific mutation found on one of my genes that my parents also have, it is probably not relevant to my symptoms since my parents do not have any medical issues. However, if they find a mutation in an area of a gene known to be associated with certain issues, if my parents do not have the same mutation, there is the possibility that may be a piece of the puzzle. It will take 2-3 months to get the results of the exome sequencing, but we are hopeful that this will help answers some of lingering questions that currently don't quite fit in with my mast cell disease.

So that's what's been happening the past week or so and what's coming up next week. After about 8 weeks of various drug trails for my neurological symptoms, my neurologist and I have decided to let things be for now and just monitor things. None of the medications helped and most of them left me with more symptoms due to side I'm glad to be able to step back from that for now. We are also holding off any new mast cell medication trials while we allow my body to adjust to the carnitine supplements I started due to the secondary carnitine deficiency. I'm still getting Xolair every other week and still using IV meds to keep the anaphylaxis at bay. Going on 35 days epi-free! GI-wise things are relatively quiet (what a blessing!!!) apart from my normal ups and downs, so we're just trying to maintain the status quo there for now. I have an appointment with a new endocrinologist in April that will hopefully be able to help us sort through some of the mixed signals we're getting from my blood work and other testing.

For now, we are enjoying some time away from constant appointments and testing (despite the fact that I have both an appointment AND testing next week...). We are thankful for the stability I have right now and that I've been able to get back to things I actually enjoy doing instead of spending my time going between doctors.

My OneWord for 2018 is BETTER, and while I'm not basing everything entirely on how I'm doing physically, it *is* such a blessing to be doing better physically right now. I have seen God's goodness even in the hard times because He is the only light that can penetrate through the darkness that comes from the heaviness of life. But it is also refreshing to experience His goodness during the good times when it feels like the sun shining brightly on what is already a clear day with blue skies. His goodness cuts through the darkness but also makes what is already good even better. I am so thankful for God to be so constant when so much else in life is always changing!

Monday, January 22, 2018

OneWord Challenge 2018: BETTER

If you missed my 2017 recap, you can read that here. In that post, I put a bit of a teaser for the word I chose for 2018. As the title of this post says, my OneWord for 2018 is BETTER.

This is my 6th year of doing the OneWord Challenge. I've already done FOCUS, AUTHENTICITY, HOPE, VICTORY, most recently, PROMISE...and now BETTER. It's crazy, because while I really only focused on each word for the year I chose it, I can still see a lot of the growth that happened during each year stick around. I've seen myself grow spiritually even during some years that were incredibly difficult and I barely opened my Bible for months. I love the OneWord Challenge vs. traditional resolutions because I love being able to reflect back over the entire year and not have a checklist of whether or not I was successful, but with the chance to see how God moved in my life.

Some years, it takes me a few weeks to finally decide on a word for the year. Other years it kind of hits me in the face and there's no question. BETTER was one of the those moments. Our women's Bible study in the fall was on Hebrews and titled, Better. As 2017 came to a close and I was working on my recap for PROMISE, I just knew that there was no question of what my word would be for this year.

I'm excited for this year.

Sometimes I've chosen a word, but when I go to actually write a post, it doesn't quite seem to fit. The year I chose VICTORY, I ended up spending a week in the hospital barely 5 days into the new year. Victory didn't really seem to make sense. But I knew God had put that word on my heart, and I trusted that somehow I'd get to the end of the year and see victory in my life. And I did.

This time is different. It's like when you're right on the edge of a major breakthrough and you can feel it, but it's still just barely out of sight. That's how I feel. God did some major work in my life last year through PROMISE. And I still feel like He's not quite done with the work He started toward the end of last year. I don't know what it is going to look like. I don't know if it will be a physical breakthrough or another spiritual breakthrough or something I haven't even thought of. But I know it's coming and I'm choosing to run toward it instead of just sitting back and waiting.

I finished this post a few days ago, but I waited until today to post it for a very specific reason. Today is 3 years of being officially diagnosed with mast cell disease. The past 2 years I've written kind of reflection posts of how I have processed finally having a name for the symptoms that have been around since high school. This year is different, though.

The year I was diagnosed (2015), I had just chosen HOPE as my word for the year. How fitting when we finally got the answer we had been looking for for over 8 years not even a full month into that year. But it also set the stage and my perspective for the year. It was a tough year. I had my first feeding tube placed less than a month after the diagnosis, a surgical tube only a few months later, and lost my ability to run and walk without assistance. But I held onto HOPE because I knew God had given me that word for a reason.

For 2016 I chose VICTORY. I started the year in the hospital for a week and seriously wondered how the year could possibly be victorious when I felt like I was knocked down before the year even started. But I held onto what I felt God had put on my heart and trusted that it would be a year of victory even if I couldn't see it. The year ended up finishing very similar to how it began (in the hospital), but for 10 months of the year, I saw more victory than I could have imagined when it chose it as my word.

Then last year my word was PROMISE. As I shared just a few weeks ago, I was caught by surprise when God opened my eyes to how much more He had in mind than what I had imagined when I chose promise as my word for the year. It was a difficult year physically. I used 37 epipens, most of the within the first 4 months of the year. I had another feeding tube surgery to separate my combination tube into separate G and J tubes. I spent months where I could barely sleep through the night because my symptoms didn't sleep. I had doctor after doctor tell me they didn't know what to do. I failed medication after medication. We had to resort to treatment options I never wanted to even consider. I felt like I was pushed to my limit and then some. Yet in the midst of the brokenness I was very much feeling physically, God brought about spiritual growth in my life that wasn't even close to being on my radar.

Last year, while physically exhausting, was also a year that felt very quiet spiritually. I felt like the author of the poem Footprints where he asked God why there was only one set of footprints in the sand during the hardest times of his life. Only I didn't feel like I was being carried. I knew God hadn't abandoned me, but when I was already feeling so broken physically, the spiritual silence somehow echoed even louder. But even when I wasn't searching, God met me where I was and the last few months of the year were filled with scripture coming alive in ways I never expected. Physically, things hadn't begun to change yet, but I was beginning to walk a new road where pain and healing coexist and sorrow and joy are not necessarily opposites.

And that's where I left off. My years of hope, victory, and promise. And now my year for BETTER. I waited until today to post because I felt like it was a good reflection of how my life has changed since I was diagnosed (so much for not reflecting this year =P). I've learned how to live in hope both with and without answers. I've seen what it means to be victorious when things are good and when things feel like they are falling apart. I've experienced God's faithfulness and grace in ways I couldn't even being to anticipate. And now that God has set the stage, I'm not just sitting back and waiting anymore.

A diagnosis is life changing. An encounter with God is life changing. Mix those together and you get a life that has been changed. The past 3 years have been about growth and learning, and I am so in awe of what God did in my life each year as I chose hope, victory, and promise as my perspectives for those years. This year is about more; it's about finding what is better. It's about taking what I'm learning and figuring out what it means to live as though I've been changed. BETTER is not about things always being good. It's about knowing the One who always is.

2 Corinthians 4:17-18 - "For this light momentary affliction is preparing for us an eternal weight of glory beyond all comparison, as we look not to the things that are seen but to the things that are unseen. For the things that are seen are transient, but the things that are unseen are eternal."

Romans 15:13 - "May the God of hope fill you will all joy and peace in believing, so that by the power of the Holy Spirit you may abound in hope."

Lamentations 3:21-22 - "But this I call to mind, and therefore I have hope: The steadfast love of the Lord never ceases; His mercies are new every morning; great is Your faithfulness."

Despite my intention for this not to be a reflective post, I can't help but look back over the past 5 years of doing the OneWord Challenge and the past 3 years of being diagnosed and not be in awe of what God has done in my life and look forward to what He will continue to do this year. Doesn't mean things will be easy or good or that I'll always feel encouraged and hopeful, but it does mean that I know where to go for my strength, the One who is always good, and ultimately, that what God has for us in eternity is infinitely BETTER than the best this life can offer.

Twenty-eight years down, a lifetime to go.

Tuesday, January 16, 2018

Always a Whirlwind: Medical Update

I realized that I've started off a number of medical updates using the term "whirlwind." I think I might just need to accept that my LIFE is a whirlwind...medical craziness aside. Anyway, either way, buckle up cause this post is going to cover A LOT.

I think I already mentioned that I saw a geneticist at the end of November. Since that first appointment, I had a follow-up phone conversation to cover what we didn't get to during the appointment, he sent orders for the first round of testing, and we've gotten most of those results back. So far, we've had one significant and two possibly significant results. The biggest piece is that I have secondary carnitine deficiency. Carnitine is involved with fat metabolism in the mitochondria to produce ATP. Basically, without enough carnitine, my body is unable to utilize fat as an energy source efficiently. Once my body has used up the available glucose, it has to breakdown muscle to use for energy since fat is not a good option. Not only is protein a much slower source of energy because it takes longer to metabolize, but breaking down muscle is not a friendly process. We feel this may be a big piece of the puzzle that we have been missing!

At this point, we still don't know why my carnitine is low. It can either be due to my body having an issue with endogenous carnitine production or a result of my body being unable to absorb and properly utilize carnitine. We are waiting on the powers that be (i.e. insurance) to make a decision regarding exome sequencing which should give us more of an idea of what is causing the carnitine deficiency. The two possibly significant results from the testing that was done in December require more follow-up and testing to know whether these are a piece of the puzzle or not. I'm being referred to a new endocrinologist as the next step in looking into those results further.

So that was the end of 2017 for me. I am so thankful to have had a great Christmas Eve and
Christmas with family this year at home instead of wondering if we'll make it out of the hospital! The first week of the new year started off as a whirlwind of appointments. I saw my GI to get a script for my tube feeds to submit to my new insurance and a refill for one of my meds that has to be done in person. I got my first Xolair of 2018. I had both of my feeding tubes changes (with the normal confusion and hiccups, of course...), was discharged from cardiac rehab, and spoke briefly with my neurologist during a shared appointment. Maybe whirlwind should have been my word for 2018...

But that's a wrap! At least on the whirlwind of the first week of 2018. Since then, I've had another round of Xolair, started carnitine supplements, scheduled with the new endocrinologist, and am collecting some data for my neurologist to figure out our next options for my POTS. So the whirlwind is very much ongoing.

In terms of a how-is-Kylene-doing update, the answer is that I'm okay. I know that's not much of an answer, but that's kinda the point. I'm doing way better than I was this time last year. I haven't been in the hospital since April, and after using almost 30 epipens in the first 4 months of 2017, I only used 7 additional epipens by the end of the year. Unfortunately I've already used 2 epipens in 2018, but I've also managed to make it over 2 months in between anaphylaxis episodes. I'm able to eat some sort of solid food most days, and we've gotten my GI issues under better control. So yes, I'm in a much better place than I was this same time last year.

However, I still have a long way to go. Part of the reason I am more stable is because I have more options for treating things at home vs. always having to rush to the ER or being stuck in the hospital. We haven't really solved any of the issues, we've just found relatively successful "band-aids" that are keeping me stable while we still try to get to the actual issues. Don't get me wrong, I am so incredibly thankful for the symptom management we have come up with that is helping! Compared to where I was last year, any bit of relief is very much welcomed. But that's why even with this apparent stability, my days are still quite full of appointments, testing, and doctors. Many of my current treatment protocols are not intended to be long-term solutions. Right now, they are incredibly valuable to get and keep me stable while we keep working to get to the root cause with the geneticist, but ultimately we are hoping that as we get more solid answers for actual underlying issues that we will be able to address those and not need the "band-aids" that I need right now for stability.

I know that probably sounds confusing, and it is, but we're also getting closer to having all the pieces to the complex puzzle that is my life. There will always be ups and downs along the way, and maybe always some degree of unknown, but right now I'm thankful to be in a relatively stable up, compared to the really rough down from a year ago.

As always, thank you for prayers and support! Last year was a lot of tough months with few answers and unrelenting symptoms, but did end more positively than it began. We are thankful that so far 2018 has begun with relative stability, and we are hoping and praying things will improve as we get more answers. Thank you for joining in on this crazy whirlwind that is my life right now!!!

Tuesday, January 2, 2018

OneWord Challenge 2017

If you've been around this blog for a year or more, you may have seen a similar post from last year recapping my OneWord Challenge from 2016. Those of you who are super observant may have noticed the difference between last year's recap and this year's...any guesses?

If you immediately went back to look at this year's OneWord Challenge post at the beginning of this year, my guess is you figured it out pretty quickly. For those of you who didn't, I'll spill the beans...there was no OneWord Challenge post at the beginning of this year.

And this recap post isn't going to be the same as previous years either. The reason being that while I do share a good bit of my life on this blog, there are still things I choose not to share with all of internet-land. While a lot of my life right now is dependent on my health, I am so much more than what my mast cells are doing. There are other parts of my life that are just as important, if not more important, than my physical health. Previous years my OneWord Challenge has focused on various aspects of my life with mast cell disease (If you would like to go back and read the past years, they are: FOCUS, AUTHENTICITY, HOPE, and VICTORY). Each of those words was very relevant, and very much needed. God used each one to shape my life and my heart over the course of the year, and I finished each year able to look back and reflect on what God did in my life through this OneWord Challenge.

When I chose my word for 2017, I initially did think it would be similar to years past and relate in some way with mast cell disease and living in a way that glorifies God no matter what is going on in my life. And I did start to write my normal OneWord Challenge post at the beginning of the year. But it just wasn't I didn't post anything.

Then we were 3 months into the year, and I still hadn't posted anything. Then I figured 6 months
would be a good time to post with an update as to how things had gone for the first half of a year. But that didn't seem right I let it pass. It wasn't until August that I realized why I hadn't been able to write a post that I felt really communicated the why behind the word I chose for this year. Because I had mistakenly assumed I already knew the direction God was going to take it when I chose the word I did. Only God had a much different plan in mind...

My OneWord for 2017 was PROMISE.

There have been numerous posts on this blog where I reference the fact that I do believe God has promised healing and will fulfill that promise whether that is now in this life or not until heaven. I thought God was going to teach me more about trusting in that promise of healing even when I don't see it or feel it. I thought I was going to get glimpses of how God is fulfilling and will continue to fulfill that promise in my life. I thought this year's OneWord Challenge was going to be a reflection on how God is always trustworthy even without us seeing the complete fulfillment of His promises. I thought...

But none of that matters. Because instead I learned how, even with my focus on God, I so often end up unknowingly trying to limit God within the scope of my human understanding. About 8 months into the year I realized that God had so much more for me this year than what I thought. This year was not about my physical health or growing in my understanding of God's promise of healing at all. It was about God fulfilling a promise.

I knew the promise had been made, and I never doubted that God would fulfill it. That hope and belief got me through many difficult seasons where that was the only thing keeping me going. But at the same time, I didn't see it being fulfilled. God had promised an end result but nothing about the journey to get there. I never doubted the end result would come to pass, but I honestly had no idea how it was going to happen. It felt like a mess of brokenness that this life had brought and I was only inches from where I started and still miles from where God promised I would be.

There was no reason 2017 should have been any different. As I began praying about what word to choose for my OneWord Challenge, I couldn't get past PROMISE. But as I chose that word for the year, it never even once crossed my mind that God could have something bigger or better in store than what I could imagine. Somehow my human understanding and knowledge was the upper limit of what the Creator of the universe could accomplish...right...

It only took 8 months for me to get past that and realize that God had so much more in store for me this year. So much more than I could have ever imagined. So much more than my limited understanding wanted to allow. Another few months later, and the theme of our women's fall Bible study came to life as I watched God show me how Jesus is Better in areas I never imagined could be touched so dramatically.

I know this is a bit vague. As I said before, some things I choose not to share on the internet. And I almost didn't write this post at all because it's basically a post to saying I'm not actually going to share anything. But I decided to write it because this was such a valuable lesson learned this year. I hope that it can be an encouragement to someone else. How often do we as believers limit God either intentionally or unintentionally? How often do we fix our eyes and heart on a goal only to realize God desperately wants to bring us into so much better if we could only shift our gaze to Him instead of our goals, however "good" those goals may be?

I didn't purpose to keep God within my understanding this year, but it happened because I didn't even consider the possibility that He could work beyond what I saw. Months after that realization, almost a full year after choosing PROMISE as my word for the year, God brought me an incredible 180 from what I had hoped was a "best case scenario." God opened my eyes to how Jesus truly is Better than anything I could have come up with on my own.

Every year I find that I have been changed through the OneWord Challenge. I continue to choose a new word each year, because I enjoy being at the end of year and reflecting on what God has done in my life. This year was no different. But at the same time, it was completely different.

At the end of last year when I chose PROMISE as my word for 2017, I also chose verses to go along with that like I do every year. Somehow, even in my limited understanding of God's intention this year with PROMISE, the verses still fit so well. Not just somehow, though, God knew all along.

Hebrews 11:13 - "These all died in faith, not having received the things promised, but having seen them and greeted them from afar, and having acknowledged that they were strangers and exiles on the earth."

I have loved this verse for years. Far from seeming like God doesn't do what He says, this verse was huge in my realization of how trustworthy God actually is. If you think about it, it is relatively easy for someone to promise something and go on to fulfill that promise. What makes God's promises even more incredible is that He promised things to the Jewish people hundreds of years before fulfilling those promises. He made promises to people who would never live to see their fulfillment. How easy would it have been to let them go? No one who actually heard the promises was still alive. It's the perfect out. Yet God not only is true to His Word, but even gives us the gift of glimpses of how what He promised will be fulfilled. THAT is a trustworthy God.

Psalm 103:2-4 - "Praise the Lord, my soul, and forget not all His benefits - who forgives all your sins, who heals all your diseases, who redeems your life from the pit, and crowns you with love and compassion."

This verse obviously does mention healing. That is one of the reasons I chose it when I assumed this year would be about that promise from God. But just like God had bigger plans for my year, this verse is so much more than just a promise of physical health. Even if the only benefit was that our sins were forgiven, that is still so much more than what we deserve. Yet, God *still* goes beyond that. Every day He is showing us that Jesus is Better. Better than anything we could imagine, better than anything we could hope for. Not only does He forgive our sins, but He redeems our lives. God promised to redeem an area of my life that I didn't think could heal. That I didn't care if it healed. God took back ground in my life that I thought was lost for good. That a part of me hoped was lost for good so I could stop trying to heal what felt like a permanent scar. Praise to our God who is not limited by human understanding!

1 John 2:25 - "And this is the promise that He made to us - eternal life."

Ultimately, this is God's promise to us. Dayenu. This should have been enough. We have the gift of eternal life in the presence of our God that we not only could never earn on our own but cannot even begin to deserve. Jesus is Better than anything in this life. The promise that was sealed through Jesus' death on the cross and resurrection is ultimately the only promise that matters. Jesus IS Better. Everything else is a gift; which makes God's redemption in our lives beyond just salvation that much more incredible. So much bigger (and better) than any promise we could ever even begin to imagine. Dayenu!

This year, 2017, has been a mix of some incredible lows and some incredible God-moment highs. Physically, emotionally, and spiritually I have been brought to my knees in more ways that I could ever have imagined. But I've also seen God lift me up higher and bring me farther than I ever could have hoped. In the midst of the brokenness of the lows, I saw how the hope that we cling to in Jesus is Better because we know this world is not all there is. When heartbreak is all we can see, the only comfort we have is in knowing that Jesus is Better. And even still in those highs, my awe of how much Better Jesus is has overwhelmed me. When I thought what I was seeing was that PROMISE, God opened my eyes to how Jesus truly is Better than anything I could ever imagine. And ultimately, just like in 1 John 2:25, Jesus is Better than anything we could ever understand in this life and the fullness of how much Better He is will never be fully comprehended until heaven.

Like I've said every year, I choose my words through prayer and asking God what He wants me to focus on in the coming year. Obviously sometimes even with good intentions I miss the mark, as you have just read in this post. But even with me missing the point, God still led me in a year of PROMISE...just differently than I had anticipated when I chose it as my OneWord a year ago. And now, He has set the stage for what is to come next year.

For 2018, my OneWord is BETTER. Stay tuned for a post for this year...although, you better believe I'll be holding it loosely this time.

Monday, December 11, 2017

When What You Think is Normal Isn't

Growing up in northern Virginia I thought it was normal for school to be cancelled when there were was a forecast of a "big" snow storm even if no flakes had actually fallen yet. I still get a laugh about remembering sitting at home with school cancelled, waiting for it to start snowing and nothing ever happening. Yes, kids in VA occasionally get snow days without snow actually having to fall. You can imagine how I was in for a bit of a shock when I moved to Ohio and 2 feet of snow actually on the ground didn't even mean a delay for the schools.

It's amazing what we assume is normal when we have nothing to compare it to.

For years I lived with what I call blacking out without ever realizing (1) not all doctors knew what I meant when I said that, because (2) it's not exactly normal. I call it blacking out when I completely lose my vision (i.e. everything goes black) but am fully conscious and often am able to continue doing whatever I happen to be doing, just without being able to see. It can take between 30 seconds to 2-3 minutes for my vision to come back after one of my blacking out episodes. At this point, I'm pretty good at working through them and most of the time people probably can't even tell I can't see unless I say something. It often comes when going from lying down to standing or sitting to standing, but it will also happen if I've been standing too long or sometimes what feels like completely randomly. I've been dealing with this for as long as I can remember. Even as a kid. I never said anything because I thought it was normal.

When I first started having symptoms we couldn't explain, it took years and dozen of doctors before we were finally moving in the right direction. I remember the day we first felt like we were being pointed toward what might actually be going on. My mom and I had gone to see my PCP for a follow-up after some sort of testing, that I can't remember. We were still trying to piece things together, and my PCP was great at never discounting my symptoms or assuming I was making things up. He would help us troubleshoot and give us referrals he hoped would help. That appointment I happened to mention that I was blacking out "more than usual" but wasn't sure if that was even worth bringing up. He looked at my mom, then looked back at me and asked how much was more than usual. I told him it used to be 6-8 times a day, but was now over a dozen times a day. Then he asked me what I meant by blacking out. That is when I discovered that what I was experiencing was not actually normal.

But how are we supposed to know what is normal if we've never known what that is?

Recently I had to switch infusion companies because my insurance changed. As is common with these type of transitions, some of my supplies came from different suppliers. I didn't think anything of it until I realized I had done a full shipment's worth of infusions and NOT had any of my "normal" infusion side effects. I was used to experiencing swelling, headaches, itching, muscle aches, and overall malaise during and after running my IV fluids. Even when I've been in the hospital or in the ER, the symptoms were there, so I assumed it was normal and thought nothing of it. I'm living with a rare disease and have 2 feeding tubes and an implanted port, pain and discomfort is a reality when there are foreign objects in my body and I'm alive because of countless medications, an unfortunate reality, but one nonetheless. That means that I'm used to just "sucking it up" and dealing with a certain level of discomfort because that's just life. Except when it's not...

After doing some research and talking with some other people with mast cell disease, it appears that what I was feeling from the IV fluids was not simply side effects but actually a reaction to the brand of plastic used in the bags. My new infusion company uses a different brand which, come to find out, is free of a few specific chemicals that often cause reactions in people with mast cell disease very similar to what I was experiencing. Most of the hospitals use the same brand I had with my previous company, so it didn't matter where I was getting them, I was always reacting. Just the fact that I have discovered that running my infusions does not actually have to mean side effects is amazing! But how was I supposed to know that what I assumed were "normal" side effects were not actually normal at all?

It's tough because I try hard not to complain. I truly believe that everyone is always dealing with something, and right now, my mast cell disease and medical issues are my something. So I do my best to keep a positive attitude and not complain, because if this is what I have to live with, I'm not going to let it drag down my attitude along with my body. But in cases like this it can be frustrating. Maybe if I *had* complained about the "side effects" I always got with IV fluids I might not have had to deal with them for as long.

I didn't speak up about my feeding tube buttons causing bleeding, irritation, and discomfort for months because I assumed I just had to accept it as part of having surgically placed tubes in my stomach and intestines. Come to find out, a simple switch to a different brand of feeding tube meant a slightly different shaped balloon which completely solved the problem. What else do I just deal with because I don't want to complain that might be able to be solved with a simple fix?

Don't worry, I'm not going to all of a sudden start complaining about everything. Even if it did uncover other simple fixes, I don't think living with an attitude focused on what isn't working is how I want to live. I'd rather choose to smile every day even if it has to be through some pain or discomfort.

Although I will say this was an interesting revelation. How often do we blow people off when they appear to be complaining? What if they're not complaining because they want to but because they are trying to calibrate their normal? If we can't ever figure out what is "normal" we could unknowingly suffer silently through things that could have an easy fix.

But like I said earlier, even just knowing that things aren't normal can be hard if we've never known any different. I mean, how was I supposed to know that other families didn't stop everything to shout, "SING ME THE SONG OF YOUR PEOPLE" when the washing machine or dryer plays the tune that indicates the end of a cycle...

What is your normal that really isn't???

Thursday, December 7, 2017

Testing, Appointments, and Colds - Oh, My!

I'm still trying to figure out exactly when December happened...I knew November was going to be a whirlwind with appointments, testing, Thanksgiving, family visiting, and just regular life, but somehow December still snuck up on me this year.

But our Christmas tree is up, the outdoor lights are hung, and the inside of our house is about as winter wonderland-y as it gets in Bokatopia. I love the holiday season, and having our own home to decorate this year has been so much fun!

Anyway, while I'm sure you're all thrilled to know the state of our Christmas decorations, the point of this post was to give an update from the last round of testing and my recent appointments before the full force of Christmas is upon us.

If you missed my update after the autonomic testing, you can read that here. After Thanksgiving I had another round of testing, this time with cardiology, an appointment with cardiac rehab, and a genetics appointment. This week I saw my allergist, (almost) did PFTs, and got Xolair on Tuesday. I am still waiting to hear back from the geneticist and my neurologist, but other than that, I am doctor-free (prayerfully!!) until after Christmas! (Other than one more Xolair before the end of the year, that is...)

Last week was a whirlwind on its own (let alone combined with the rest of November), so I'll start there. On Tuesday we spent the better part of the day at the Clinic for a stress test and consult with cardiac rehab. The stress test was to make sure my heart was working well (it is), and the consult with cardiac rehab was to maximize the benefit of my exercise. Since I have not yet had success with any medications to manage my POTS, we have had to look to other forms of management in the meantime which include exercise, lots of salt, electrolyte drinks, and compression. Even with that, I've been struggling lately, which is where cardiac rehab comes in. My neurologist was hoping that some tweaking of what I currently do for exercise may help my symptoms if I'm more purposeful with heart rate training and intensity.

Overall, the cardiac rehab appointment was frustrating. Even though I can't really run right now, I've always been more of a runner than a power/strength athlete. That means that in any sort of exercise testing, my legs/muscles typically give out well before I reach my aerobic capacity. The stress test was done on a bike which meant that even when I was maxed out in terms of my ability to keep pedaling against the resistance, I was still able to have a full conversation with the techs doing the test.

Based on the results of the stress test, the exercise prescription the doctor gave me was a few very large steps back from what I've been doing. Because I haven't always had doctors who have cared or been able to do anything to help, I've had to be fairly independent in figuring out what works for me. I felt very frustrated because one of the few things that has helped my POTS symptoms was being taken away.

Now, that said, I did actually like the doctor. Despite not really agreeing with the program, I did appreciate him being willing to listen to my concerns and explain why he was making the recommendations he was. After I shared why I felt like I was losing everything that I knew was making a difference, he was willing to make some adjustments so it didn't feel like he was taking away everything that was helping. He also explained why he was not willing to negotiate on other aspects of the program. I still left feeling pretty frustrated (and kind of ranted to my mom in the car on the way home), but I did agree to give it a solid try. It's been just over a week, and I can't say I'm convinced, but I'm also that much closer to being back to my normal exercise routine...silver lining... =)

Leni was a rockstar during our long days at the Clinic.
The day after the stress test and cardiac rehab, we were BACK up at the Clinic to see a geneticist. This appointment was fantastic! My appointment was over 3 hours long, and we still didn't finish everything the doctor wanted to cover. At the very start of the appointment, he told me that we were going to figure this out together. He was the medical expert, but I was the expert on me. As we went through each point he wanted to cover, he would take notes while we were talking. Before we moved on to the next point, he would ask me to read over his notes and asked if he missed anything or wrote anything down wrong or if there was I wanted to add.

The geneticist is the kind of doctor that you just know you can trust regardless of the outcome. I'm seeing him because there are still some pieces that don't quite seem to fit with my mast cell diagnosis. We don't know at this point if there is something else going on, but a few different things have been mentioned over the course of a few years, so we figured it was time to get some definitive answers. With some doctors, you can tell they either really don't know or simply don't care when they tell you it's impossible for you to have some unusual diagnosis. (ex. I had an allergist tell me there was absolutely no possible way I could have any sort of mast cell disease with a normal tryptase.) That is not at all the case with this doctor. If he comes back and finds something we hadn't considered, it will be great to have that final piece of the puzzle. If we get to the end of various testing and evaluations and he determines there is nothing genetic going on, then we will be confident that we have ruled any of this stuff out for good. It is a good feeling to know that regardless of the outcome, we will eventually have a definite answer.

So that was last week. Unfortunately, after spending the better part of Tuesday and Wednesday at the Clinic, I managed to pick something up during the hours we spent there...From Thursday through Tuesday/Wednesday, I was fighting off pretty rough cold symptoms which was not at all fun. The worst of it for me was difficulty breathing, especially overnight. Thankfully with aggressive breathing treatments and extra benadryl, I managed to not only get over the cold without ending up in the ER, but also keep the nasty masties at bay. I'm counting this as a win.

My allergy appointment on Tuesday was a packed day. I was *supposed* to do my PFTs, which turned out to be my saving grace, but still got Xolair like normal. PFT stands for pulmonary function tests. The point of these tests are to give quantitative data on how well my lungs doing. Because I had been sick, I was worried that my PFTs would be unusually low for me which would mean no Xolair. Since I can only get Xolair on Monday or Tuesday, that meant I'd have to wait a week. Going 3 weeks in between injections is rough any time, but with Christmas coming, I had no wiggle room. If Xolair got postponed a week, I'd be due on Christmas day...not only are the offices closed but I'd be in VA...thankfully, the PFT machine was not working on Tuesday! So I squeaked by =) (Full disclosure, I did talk with my doctor about how I had been feeling and my concern with missing a week, so it was a joint decision to go forward with the injection this time. I was not intentionally misleading my doctor and the nurses.)

After the Xolair debate, I had an actual appointment with my allergist. We had a lot to go over. Since my last appointment I had seen Dr. Afrin, seen the new neurologist that my allergist had referred me to, had autonomic testing and a stress test, seen cardiac rehab, and started with the geneticist. Plus i had tried 2 different POTS medications and switched everything over to a new supply company and specialty pharmacy. Along with all the updates to cover, we also discussed any other options for my mast cell disease and whether my current regimen needs adjusting.

It's a bit tricky right now, because we are also working on finding a medication that might help my POTS. My mast cells are relatively stable at the moment, but only because I have IV meds available which is not considered "real" stability or where we want me to be. Which means trying various mast cell medications as well...trialing multiple meds at once is not good for anyone let alone when nasty masties are involved. So it's a slow process, but at least we're moving in the right direction.

Yes, those are llamas in our nativity. Do I have the best best
friend or what???
And that's a wrap! On November at least =) December is in full swing! Please be praying I can stay away from doctors until January 2 when I have my next scheduled appointments. We are so very thankful that I am in a better place than I was this time last year, and we are hoping to make it to our church's Christmas Eve service for the first time! Last year we were planning on going, but then I ended up in the hospital until 9 pm Christmas Eve night. Not looking to repeat that this year! I'm hoping to post again before the end of December, but in case I don't, Merry Christmas and Happy Chanukah from the Bokas to you and your family, wherever in the world you are! We are thankful for your prayers!

Sunday, November 19, 2017

Autonomic Testing and Thanksgiving

First round of testing, done! Thankfully, this was likely the worst of the testing that has been scheduled so far, so at least I got it out of the way. On Monday I had some autonomic testing done that included a Tilt Table Test (TTT), Valsalva Breathing Test, and Deep Breathing Test. Don't let "breathing tests" fool you, these have the power to confuse your autonomic nervous system and cause fainting...even from a seated position or lying down...yeah, barrel of monkeys (FYI, I *hate* monkeys)...

The breathing tests were first. Basically, these tests stress each division of the autonomic nervous system separately (the parasympathetic and sympathetic sides of the ANS), while the TTT stresses the autonomic system as a whole. They sound simple enough, but actually doing them is a different story. I've said it before, but I'd *love* to see someone whose nervous system works properly do these tests to see whether they really are as draining and exhausting and miserable as they feel to me.

The Deep Breathing Test involves inhaling and exhaling to a rhythm that eventually equates to 6 breaths per minute. The idea is to have a smooth in and out pattern while staying on beat with heart rate and blood pressure being monitored the whole time. After the first of two tries, the nurse said, "You must be having a lot of breathing issues going on, too, huh?" I told I hadn't thought I was, but apparently I was mistaken...she kinda laughed at that =) This test was a challenge, but do-able. My heart rate and blood pressure responses were relatively normal, which is what I expected. Other than during anaphylaxis or after being exposed to a trigger, I don't typically have issues with shortness of breath or air hunger or any other symptoms that typically go along with autonomic breathing issues.

Next up was the Valsalva Breathing Test. Now, I have had all of these tests before. I couldn't remember the Deep Breathing Test, but I remembered the next two. The TTT is probably on my top 5 least favorite tests I've had to do. The Valsalva, while not as bad overall, still caused me to pass out during the previous round of testing. Thankfully I did not pass out this time! But it was likely only because I wasn't able to complete this test. This one is done by breathing against resistance to reach a threshold of 40 mmHg, then continue to breathe against the resistance to hold at that threshold for 15 seconds. I was quite surprised that I was unable to even get to the 40 mmHg...I could barely get halfway there. We tried a few times, but I was unable to get more than 20 mmHg consistently and was beginning to black out toward the end, so we had to stop. My blood pressure and heart rate were within the normal range that would be expected for the amount of resistance I was able to breathe against, so the issue with this was more my ability to exhale against the resistance vs autonomic issues.

Last up was the TTT. My favorite...Like I said earlier, this test is designed to stress the autonomic nervous system as a whole and see how the body reacts. A normal response would be to see a slight increase in heart rate (10-30 bpm, maximal heart rate below 120 bpm) and a slight decrease in blood pressure (<30 mmHg systolic or <20 mmHg mean BP) that normalizes after a few minutes. Far from what it is shown on House (the episode about a man with spinal muscular atrophy and his service dog), this is not a matter of raising and lowering a table repeatedly to try to get someone to pass out. It sounds much more exciting that way which is probably why they showed it that way on House. In reality, it is done by taking resting vitals (heart rate, blood pressure, oxygen saturation, etc.) for about 10 minutes while lying flat. You get strapped onto the table (so if you pass out you'd don't fall off!) with your feet on a platform. After collecting baseline vitals, the table is tilted up to 60-80 degrees over 5-10 second. That's it. You just "stand" there while they take continuous blood pressure and heart rate and all sorts of other data.

The duration varies depending on where the test is done. Some places will go up to 45 minutes if needed to induce symptoms. Other places end after 10 minutes. Some will use various medications to induce symptoms if things appear normal over the first part of the test. Regardless of where the test is done, the point is basically to get you as close to passing out as possible without actually passing out. They always say the aim is to lie you down before you actually pass out. I know plenty of people who can attest that this does not always happen. Because the test is very much dependent on each person's symptoms and response to the test, duration will be very different even within the same facility. My previous tilt was only 5 minutes because that was all the time we had. I was so thankful. I was ready to be done after 5 minutes. This time I made it almost to 7 minutes before it was over. Thankfully, the nurse and doctor doing my test were on top of things and I did not have to actually pass out. They could see my heart rate and blood pressure starting to freak out so we stopped.

Despite both my heart rate and blood pressure being not quite at my baseline thanks to the breathing tests before the tilt, I still had a significant increase in my heart rate during the tilt. I was very surprised to see the increase was even greater than it had been on my previous tilt since I had told my neurologist less than 2 weeks earlier I thought my POTS was better managed now than it had been before the original diagnosis. That said, right now, there is still some friendly disagreement in the autonomic neurologist community as to whether symptom severity parallels TTT results so these results do not necessarily indicate that my POTS is worse. But as my neurologist pointed out, regardless of whether or not it is worse than it was 3 years ago, it is still bad enough that what I'm doing right now is not enough.

What was more surprising was what my blood pressure did during the TTT. I've had a number of documented episodes of blood pressure in the 90/50 range causing fainting and other neurological symptoms. So we had assumed that was contributing to my passing out, but since I don't typically measure my BP at home, it wasn't really confirmed. During the tilt, my BP initially dropped (which is normal), steadily climbed back to normal (also good), started crashing (right when they decided to lie me down), then spiked higher than I think I've ever seen it and stayed there for a few minutes. My doctor said I got the award for highest blood pressure this year on a tilt. Not exactly an award I was going for. We were all kind of surprised to see how high my BP spiked, although, I was starting to have a mast cell reaction which often does drive an increase in BP, so that may have been a factor. I ended up needing benadryl immediately after the test as my throat started swelling...the doctor doing to the test (not my normal neurologist) was talking about epi and the ER, so thankfully everything calmed down without needing those!

Overall, the testing confirmed my previous diagnosis of POTS and gave my doctor some more info that will hopefully help us figure out how we want to go about managing it. Up until seeing the results of the testing, I would have said my POTS was relatively well controlled and that I even though the TTT might have been close to normal. I mean, I do still pass out multiple times a week and black out multiple times a day and have other associated neurological symptoms, but I still thought I was doing "well" in managing these symptoms. Maybe compared to other things...but apparently it still may be a part of the problem. We are discussing trials of some medications I had tried in the past but not done well with as well as some that I have not yet tried. I have a couple more appointments and some more testing coming up before November is over, so we are hoping that will give us some more insight.

I get a bit of breather until Thanksgiving is over, then that week I have another round of testing, this time with cardiology, and will be seeing a geneticist. After that I see my allergist to go over all the testing and appointments and see what our next steps are in terms of trying to get my mast cells more stable. After *that* I have a follow-up with my neurologist and an appointment with my GI doctor to sort out some issues with my new insurance and feeding tube formula.

It is a weird twilight zone feeling of seeing how closely these few weeks have paralleled these same few weeks back in 2014. Testing, hope, new doctors, and prayers for answers that will help us better manage my health. I was talking with a friend this week which was a great reminder of how, in the midst of the craziness it can be so easy to forget that my hope is not in the results of the, tests or the new doctors I am seeing or even in the potential answers that may come. My hope is in God. He alone is the One who has the answers we need. Regardless of the outcome of the tests or how well the appointments go, my life is not in the hands of my doctors. It's in the hands of my Healer.

So we do not lose heart. Though our outer self is wasting away, our inner self is being renewed day by day.
2 Corinthians 4:16

So we are hopeful and expectant but also at peace knowing that ultimately God is sovereign. And in the mean time, please join me in a huge PRAISE that this year may be the first time in 3 years that I'm actually able to eat something on Thanksgiving! Such a simple thing, enjoying a holiday with family, that I think we all take for granted (I know I did!). I am so thankful and excited to be able to sit down with my family for dinner! At the same time, please also join me in PRAYER for the families who will be celebrating this holiday without a loved one for the first time. One of my closest friends and her family as well as the family of a friend of mine who had mast cell disease are entering the first holiday season without their mother/daughter/sister. Please keep those who are hurting this holiday season in your prayers and consider reaching out if you know anyone personally.

I'm thankful for all of you reading this blog, everyone praying for me and my family, and my friends who are living this crazy life with mast cell disease (or another rare disease) alongside me. I am so blessed, and I have so much to be thankful for. Yes, things are tough at times and I'm not going to pretend I'm always smiling or happy and never cry or feel overwhelmed or get frustrated. But I'm also truly thankful. Just like 2 Corinthians says, I *am* being renewed every day. My life is not my own, and I would not want it any other way. This year I have seen the depths of God's grace in new ways. My hope is secure. My healing is promised. My life is redeemed. What more could I ask for? Yet God continues extending His grace to me through friends who understand what life is like with mast cell disease and other rare diseases, through doctors who can help and have answers to questions we didn't even know were there, through His Word that is truly living and active and changing lives, and through His love that I am far from deserving yet would be lost without it.

I am so blessed.

I am so thankful.

Happy Thanksgiving!!!