Thursday, April 12, 2018

Entire Month Free from Doctors (Kinda)

I made a comment to Nick this past week that I made it an entire month without having to go downtown to the Cleveland Clinic. I thought I made it an entire month doctor free, but as Nick pointed out, I still had Xolair every other week and one ER trip thanks to anaphylaxis...but it was close! Full disclosure, I'm not counting chiropractor or dentist appointments even though I do know both are legit doctors.

Anyway, April ended my brief (almost) doctor-free run. I had an appointment with my allergist earlier this week and have 2 days of appointments downtown coming up later this month. After reviewing my medical history, my geneticist felt that there was some additional evaluation needed from endocrinology and cardiology. He also wanted more of a nutritional work up by a dietitian, so that is in the mix, too.

The endocrinologist I'm seeing is supposed to be fantastic, so I'm hopeful that she'll be able to help us get to the bottom of some of these issues that have just kind of been "monitored" for the past few years. I see the dietitian the same day as the endocrinologist, and I'll fully admit I'm a bit more skeptical that this appointment will be useful. At this point, I've seen somewhere between 6-8 dietitians...I've lost track...The challenge is partly that I have complicated issues, but also that I have been forced to figure things out for myself since I was undiagnosed for so long, so most of the appointments ended with the dietitian saying I've done a good job so far and to just keep up with what I'm doing. Apparently I've been supposed to figure out how to manage opposing GI motility issues (delayed stomach motility combined with rapid intestinal motility), severe food allergies, limited solid food intake during mast cell flares, artificial nutrition designed for pediatric use, and deficiencies that can be improved with diet even if not necessarily caused by it completely independent of any medical professional I *am* hopeful that this dietitian will be able to actually help, but I'm hesitant to get my hopes up.

The last new doctor is the cardiologist. I saw a cardiologist a few years ago and was cleared of what appeared to be Long QT Syndrome (turned out to be related to chronically low potassium), and was recently discharged from cardiac rehab, so I figured I was good to go heart-wise. Except my geneticist said that I have had about 5 abnormal EKGs within the past year that he felt needed further evaluation. He recommended a doctor he felt would be a good fit in looking at the whole picture of the combination of mast cell disease, POTS, GI issues, carnitine deficiency, etc. so this is going to be another new doctor that can hopefully help us figure things out.

I'm also having my feeding tubes changed on the first day I'm up at the Clinic for these appointments, so thankfully we were able to combine things and save another trip downtown. We're trialing a new mast cell stabilizing medication and tweaking some of my GI medications to see if we can pull any additional benefit from my current protocols without upsetting the balance too much. We're also still waiting on the genetic testing results which will probably be at least another month.

In the meantime, I've started my dissertation data analysis! I've got some long days in the lab ahead of me, but there is actually an end in sight! I'm on track to *hopefully* graduate this December. I'll be sure to share these updates as well as medical updates. Here's a photo from this week of Leni working hard (or hardly working?) in the lab.

The next few months are going to be busy, between doctor appointments and dissertation work. We are very thankful to have hit a period of relative stability with my mast cell disease thanks to new treatments that came at least partially from the carnitine deficiency diagnosis. Please pray with us that that stability continues through the long research days at school and with any potential medication or treatment changes that may come after seeing the new doctors.

Monday, March 19, 2018

Shrodinger's Cat meets Rare Disease Life

My guess is most of you reading this are not quantum physicists. Don't worry, I'm not either. But I *am* going to use quantum theory to explain this post. Even though I'm most definitely not a physicist, I am technically a chemist, so science analogies just come naturally. Bear with me, I promise there's a point to all this!

Even for non-physicists, you may have at least heard reference to Shrodinger's Cat, possibly in high school physics or just in random conversation. I'm not exactly sure where I first heard about it, but as I was thinking about a weird in-between-ness (Yes, I am aware that is not a word. I'm a scientist remember, not a linguist) that comes with living with a rare disease, I realized what a great analogy this could be. So strap in for some quantum theory to explain rare disease life! Sometimes I feel like being a quantum physicist might not actually be as complicated as living with a rare least in quantum physics everyone accepts that some things are just unexplainable!

Shrodinger's Cat came out of a thought experiment by Erwin Shrodinger in 1935 (translation: no cats were harmed in the development of this theory). The very basic idea involved placing a cat in a steel box with a tiny piece of radioactive material that would possibly begin to degrade within an hour, but was also equally likely to not have begun to degrade within that hour. If it did begin to degrade, it would trigger the release of a chemical that would kill the cat. BUT as mentioned earlier, if it did not degrade, the chemical would not be released and the cat would survive.

The quantum theory behind Shrodinger's Cat is based on a principle called superposition, which essentially means that until a system is observed, all possible states exist simultaneously. Until the steel box is opened, the cat is assumed to be both alive and dead. According to Shrodinger, both exist simultaneously until the reality is observed.

Now this thought experiment was actually proposed by Shrodinger to prove that quantum theory does not actually work with large objects and needs to stick to describing the smallest scales of energy at the atom and subatomic level. The cat is either alive or dead, not both. But it does provide an interesting concept to consider.

Is it possible for two opposite states to exist simultaneously? I would argue that the answer is yes even beyond the realm of quantum physics.

Just ask any rare disease patient.

I was diagnosed with mast cell disease in 2015. That answered a lot of our questions and explained almost all my symptoms. At least at the time...At least that is what we thought. Three years later and we're back in the trenches with additional diagnoses potentially on the horizon.

I'm both diagnosed and undiagnosed.

And I have to say. I think this Shrodinger's Cat of rare disease is even more difficult than simply being undiagnosed (not that that is simple in any way). BECAUSE of the mast cell diagnosis, I've had multiple doctors just attribute my unusual symptoms to my unusual diagnosis. Even I did that. I figured that we already had my answer, so there must but some way my symptoms fit somewhere under that diagnosis. Until they didn't...and I finally had a doctor willing to step back and look at the bigger picture. And agree that there did still appear to be a missing piece...that there was the possibility of more left to diagnose.

The very nature of having a diagnosis also meant that we were also potentially missing another diagnosis. Rare diseases are the Shrodinger's Cat of chronic illness. We are often living as both diagnosed and undiagnosed. It's not until someone takes the time to step back and actually look at what is going on that we have the chance of observing what may be a new diagnosis and finally leave Shrodinger behind.

A couple of weeks ago, my parents were here in Ohio so we could all have blood work done for whole exome sequencing. It is our hope that this is my chance to leave Shrodinger behind, but the reality is, we may come out the other side of this testing with no more clarity than we have right now. We know I have mast cell disease as well as a few other associated diagnoses because of that. But we also know I have other issues that cannot simply be attributed to that diagnosis. So we're stuck in this rare disease superposition where until we actually find answers, I'll remain both diagnosed and undiagnosed.

Image result for schrodinger's cat memeAnd in the meantime, I have referrals to new doctors to look into some of the persisting symptoms that we've finally concluded cannot be blamed on the nasty masties. So I walk into these first appointments with both a diagnosis and unanswered questions, hoping that these doctors are willing to accept the very real reality of Shrodinger's Cat for rare disease patients. And hoping that they will help us get to the bottom of these issues instead of lumping everything onto my mast cell diagnosis and saying its someone else's problem.

Wednesday, February 28, 2018

Rare Disease Day 2018

If I told that something impacted fewer than 200,000 people in the United States, would you worry that it was going to affect you? Probably not. That's only 0.062% of the entire population of this country.

What about if I told you that it impacted 1 in 10 Americans? Now we're talking about 10% of our population. You might pay a bit more attention to that.

What if I told you that those statistics were about the SAME THING?

In the United States, a disease is rare if it affects fewer than 200,000 people. So that means 0.062% of the people in this country are living with any given rare disease. I know, seems like a number that small couldn't possibly touch your life, right?

Now let's take a look at that second statistic? That 1 in 10...that's how many people in this country are living with a rare disease. Most of us know more than 10 people, so the question isn't WHO you know with a rare disease but HOW MANY do you know that have been affected by one of the almost 7000 currently identified rare diseases.

So yes, I'll admit, those statistics I presented at the beginning aren't exactly the same...BUT they *are* a whole lot closer than they first appear. I had no concept of what a rare disease was until it became my reality. Even still, most people get a picture in their mind of adorable kids in wheelchairs when they think of rare diseases. In reality, over 80% of rare diseases are considered invisible illnesses, meaning you can't tell that person is living with a rare disease just by looking at them.

Each rare disease on its own might not impact enough people for anyone to care except the families who have to live with it every day. Rare diseases as a whole, though, they impact 30 million Americans. That's why those of living with one of these rare diseases live by the phrase "Alone we are rare, together we are strong."

In the age before the internet, people diagnosed with a rare disease truly were alone. If you were "lucky" your condition had a strong support group and organized meet-ups. If not...well, that's where "alone we are rare" comes in...

But now, with social media and the ability to connect with people on the opposite side of the world in seconds, the rare disease community has become just that. Even the rarest of the rare can find a community of others just like them.

Cheyanne (and Weasley)
By now you probably know I'm living with mast cell disease and (recently diagnosed) secondary carnitine deficiency. Both are considered rare diseases right now. My form of mast cell disease will likely move out of the rare disease category once awareness means a better ability to diagnosis, but secondary carnitine deficiency is actually considered quite rare on its own. While we still don't know exactly why I have this, we suspect it may be due to some form of mitochondrial disease which we hope to find out through the exome sequencing that I just did last week with my parents.

Without the internet, there may have never been a way for me to connect with other people also figuring out how to live with these diagnoses. Actually, the reality is that without the internet, I might never have been diagnosed in the first place. As challenging as living with a rare disease can be, living with an undiagnosed rare disease has another layer of complexity and brings its own added challenges.

Rare Disease Day is so important because it is chance for those of us living as one of just 0.062% to remind the rest of the country (and the world) that we're actually 10% of the population. Research is almost always at the core of awareness for rare diseases. Without research, there is no hope. At some point, even the curable conditions we barely bat an eye at these days were rare and unknown. When we feel the weight of being such a small percentage of the population, it can be hard to hold onto hope. That's why Rare Disease Day is so important. It's a chance for us to remind everyone else that we're really 1 in 10, and that gets people's attention.
Julie (and Raven, Leni's sister!!)

We're making progress, don't get me wrong. With the internet and social media, "alone we are rare" is becoming less and less. Now it's time to make "together we are strong" a reality. We can't do it by ourselves. Strength comes in numbers but even more so it comes from knowing we have doctors and research behind us working to truly give us that strength.

We're not just adorable kids in wheelchairs with bright smiles. Some of us are for sure. But as a rare disease community, we're so much more than that. We're adults who fight the feelings of inadequacy when we can't work a normal 9 to 5 job. We're mothers who feel incapable of caring for our own families. We're teenagers wondering if we'll ever be able to go to college or live independently. We're children who fully understand the financial burden our health has placed on our families. We're siblings who know we got more attention and wish it hadn't had to be that way. We're spouses who feel like we're always on the receiving end. We're friends who have to watch our friends die from the very conditions we're living with. We're parents watching as our kids are forced to navigate a world that doesn't know how to handle them.

But we're also proving what it means to defy the odds.

We're living beyond the life expectancy given by our doctors. We're doing things our parents were told we'd never be able to do. We're surviving despite a body that fights us every step of the way. We're blazing the trail of what is possible when living with progressive or barely understood conditions. We're graduating from high school and college and grad school. We're continuing to live for our friends we had to say good-bye to far too soon. We're proving that a rare disease diagnosis isn't always a death sentence but a LIFE sentence.

And we're taking the life we've been given and doing our best with it. But being in the 0.062% is hard. There is a very tough reality that comes with having a rare disease. It can be easy to feel alone when our closest friends we may have never met in person. When our children are the only ones with their diagnosis in their county or state. When we have to travel across the country to doctors who understand our condition. When our list of medications is longer than our list of safe foods. When our children don't ever expect us to make it to their school events. When our list of specialists is longer than our class schedule for the semester. When life is scheduled around appointments and medication schedules and we always feel at the mercy of our rare disease.

Alone we are rare.

But there is also a special strength that comes from being in a community with others who get it. Support groups remind us that we're not alone. The doctors who sacrifice time with their own families and put themselves out there for criticism because they see what being in the 0.062% means for their patients remind us to not give up because they aren't. Meet-ups give parents a glimpse into the future when they see young adults living well with the same condition their child was just diagnosed with. Conferences remind us that there is hope and there are doctors and researchers working tirelessly to understand more and provide new options for treatment. Having friends around the world also living with the same conditions helps us remember that we're stronger because of what we face every day and reminds us that our lives still have purpose even when we feel like we've lost so much.
Cienna (with service dog, Opie, and
service dog in training, Piper)

Together we are strong.

Individually we're in the 0.062%. As a community, we're 1 in 10. Today is our day to speak up and remind the world that we're not as rare as our diseases may be. Alone we are rare, together we are strong!

Happy World Rare Disease Day 2018!

*To learn more about mast cell disease or secondary carnitine deficiency you can click on the links to read a brief overview of each condition.

Monday, February 26, 2018

Leni Goes Snowboarding!!!

Okay, full disclosure, she did not actually get on a board and go down a slope. Although we did try to get her on a board just for fun =) But she DID come with me when we went snowboarding with my parents, so I thought I would share a bit of what it was like to have a service dog come to a ski resort.

We were renting a house about 10 minutes from the slopes, and originally the plan was just to leave Leni crated with Cody and Maggie (my parents' dogs) back in the house. But I was nervous to be away from her for that long, especially when I knew was going to be dealing with some of my known triggers...after a conversation with a friend who is on ski patrol at a different resort, I got the idea to ask ski patrol if I could crate Leni with them during the day so she was close enough for me to check in with throughout the day. They hadn't ever done that before but said I was welcomed to bring her crate and leave her in the ski patrol room.

In theory, this seemed to be a great plan. In reality, there were a couple major issues. One was uncontrollable and the other we're working on. The first issue was that the head ski patroller ended up being a smoker. In case you missed it, smoke and I don't exactly get along...Mom smelled it and let me know, and Leni alerted shortly after. That meant there was no way I could leave Leni crated there. We couldn't risk Leni and her crate coming home smelling like smoke...So that was Major Issue #1...

Major Issue #2 is what we're now working on. It makes sense that as a service dog, Leni knows she is supposed to be with me. Since we were paired in 2015, the longest we've been apart has been a few hours when Nick and I ended up in the ER and she stayed home with our friends we were living with at the time. Even then, when presented with the opportunity, she tried to follow the ambulance through the neighborhood. After a few times, she calmed down once she understood I'd be coming back, and it was no longer an issue. But because it resolved and because we were more focused on my health, it never really occurred to me that this was something we needed to work Major Issue #2 is mostly my fault.

We could not leave Leni in ski patrol without her barking, whining, and pawing at her the point that I was concerned she might hurt herself. She was having no part of being left in a strange place without me. That was when I realized that since she came home, we really had never worked on her being left alone for any amount of time, let alone combined with being in a new place. We ended up having to take turns snowboarding so that someone she knew could stay with her the whole time. Even still, as soon as she saw me coming down the slope, she would fixate on me until I came over and would not be distracted. While it *is* a good thing for her to be so connected to me since that's kind of the reason we got her, it is NOT good that I cannot ever be apart from her. After some input from her trainer, we've started working on this to hopefully resolve this!

All that aside, I do think I would try this again once we resolve the separation issue. Having Leni right there to check in with throughout the day gives me a bit of peace of mind, especially considering I'm exposed to more than just normal triggers. I think if we had the opportunity to introduce Leni to the ski patrol team who will be with her for the day, she would be more at ease since it wouldn't be a bunch of random strangers. I guess we'll see in the future. First up, though, is working on Leni staying calm when crated so I can leave her and go out without having to worry about her barking and carrying on the whole time.

So being able to go snowboarding was both a success and slightly unsuccessful. My previous post went into more detail about the concerns I had going in whether I would actually be able to snowboard and how I exceeded my own expectations of what I would be able to do! Having Leni at the slopes was slightly less successful, but we're working on it. Hopefully by next year, we'll have resolved this issue, and Round 2 on Leni Goes Snowboarding will be completely successful! Stay tuned =)

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!!!