Tuesday, June 12, 2018

Answers Where We Didn't Expect Them

Life has been busy! That's a good thing, I promise. But it has been quite a while since I have blogged, so I figured it was time for an update. This ended up being a long one (it wasn't when I started), but it's worth it to stick it out!

Some of the good busyness has been from my dissertation research. I'll spare you all the science-y details, but I'm about a third of the way through the blood samples I need to analyze. Assuming all goes smoothly (haha, yeah...) and we don't have any major uh-oh moments, our goal is to be finished with the data analysis by the end of the summer. Despite the fact that science is almost synonymous with things going wrong, we're doing quite well and making solid progress.

As you can see, Leni is an invaluable member of our lab team. Yes, she wears her own protective gear when we're in the lab. Boots, lab coat, and safety googles are her standard; we just threw the mask on from this photo. Is she not the most tolerant poodle you've ever seen???

Also, major SHOUT OUT to Nick for being such a willing participant to help me meet the minimum number of subjects I need. I'll let him share the gory details...although, if anyone (healthy male between 18-35) is interested in making about $50 in gift cards to Target, I still need one more person...any takers???

So that's my school/dissertation update. Now for the more complicated stuff...medical updates. Where to start...

First, we got the results of the whole exome sequencing that was done back in February. This was done to hopefully identify any single gene mutations that could be causing the symptom pattern that I have. While we were able to rule out some genetic conditions that were on the possible suspect list, it did not give us the easy, this-is-what-you-have-answer we were hoping for. Initially, it felt a bit disappointing to know that I would remain stuck in this gray area of being partially undiagnosed indefinitely. I wasn't entirely surprised that we didn't get an easy answer, but I had still been hoping. That said, my geneticist said he still felt that there is something genetic going on based on my symptoms and history. We just didn't have the easy, single gene mutation that would have made things so much simpler.

However, because there were (are) still issues that need addressed even if we can't attribute them to any specific genetic mutation, I've still been busy with testing. My geneticist had referred me to a new endocrinologist and cardiology to look into some of the ongoing symptoms and abnormal results I've been having. After the initial appointments, both ordered some follow-up testing, and that has now been completed.

Based on a number of abnormal EKGs, my geneticist had sent me to an electrophysiologist to rule out a few possible conditions that could be causing the observed issues. That doctor ordered an echo (ultrasound of the heart) to look for any possible structural issues. While the echo did show that I have a small hole in my heart (called a patent foramen ovale), it is not causing any issues and nothing needs done for it. Turns out that PFOs are actually fairly common and about 25% of adults have one, so it was nice to be in the norm for once! (Or at least in a larger percentage than the rest of my life...I am well aware that 25% is NOT the majority...that was for you, Mom =P) Other than the PFO, my echo looked good, so I can cross cardiology off my list of specialists for now. That is always good news!

The endocrine testing was more interesting. I did what is called a mixed meal tolerance test (MMTT) which is similar to a glucose tolerance test, but with a balanced drink of protein, fats, and carbs instead of just carbs. We knew I had pancreas issues that we suspected were causing my hypoglycemia, so we were hoping the MMTT would give us some more answers for how to better manage my symptoms. The test itself was not fun...we ended up having to stop early because my blood sugar dropped too low to continue...plus it took my body almost a full week to stop having crazy blood sugars after the test...BUT it did give us some answers, so I guess it was worth it.

Since it's now been about 12 years from the start of symptoms that first started this search for answers, we usually go into most appointments and testing at least having an idea of what possibilities are on the table. So when my endocrinologist diagnosed me with something I had never even heard of it before, you could say it was a bit of a surprise.

Before going into those details, I want to take a step back and give some context. Because the previous few weeks had actually been an interesting month or so of having to trust God in uncertainty and seeing His timing yet again coming through when we didn't expect it. This endocrine testing came only a few weeks after the disappointing news that the genetic testing didn't get us any closer to an answer. I felt disappointed that there was no and likely would not be an easy answer, and had to remind myself that since we haven't had a name for going on 12 years now, it really didn't change much of anything. In that I had to let go of feeling like I needed answers, and just trust that no matter what answers I did or did not have, God had me in His hands. I had to remember that my hope was not in a diagnosis or my doctors but ultimately and only in Christ. That is a lesson I feel like I have been learning for the past 12 years of progressing symptoms; it was just magnified with this feeling so close to an answer yet still coming away with nothing. This was definitely a hard reminder and I had to make a conscious decision to trust God in uncertainty and disappointment, but mercifully, this time, this was not a road I had to walk down for long. And for that I am so grateful.

When I saw my endocrinologist for my follow-up she came in telling me how excited she was because she was confident she had my answer. Only the week before, she had met with a colleague who is drug rep for a new FDA-approved drug. That drug is approved for primary periodic paralysis conditions, and she realized that she had a couple of patients that she suspected had a form of periodic paralysis. She went back to review symptoms and blood work and other test results (here is where the MMTT comes into play) and discovered that she did in fact have an answer for us! Not only did she have an answer, but there was actually an FDA-approved medication for it, and she is going to write a paper about symptom presentation (and hopefully management on this new medication!), so it was exciting for all of us!

The form of primary periodic paralysis I have is called Hypokalemic Periodic Paralysis, which is a rare, genetic neuromuscular ion channelopathy. That means that there is a malfunction at the ion channels that control the flow of electrolytes (calcium, sodium, potassium, etc.) in and out of the muscle. This results in drop in potassium (hypokalemia) that leaves the muscles unable to contract properly or allow for coordinated activity. While 'paralysis' is in the name, it can also present as varying degrees of muscle weakness and difficulty producing coordinated movement. It is episodic which means that there are periods of minimal weakness and few deficits in between symptomatic episodes. It is genetic; although most people do not have symptoms until their late teenage years or early twenties. It can be progressive if it goes untreated, and some forms do results in permanent muscle weakness later in life; however, it typically responds well to treatment (potassium supplementation, avoiding triggers, and medications to help create more stability).

My endocrinologist believes that this explains why my potassium keeps dropping, why I still have episodes of pre-syncope, falling, and 'clumsiness' even when my POTS appears to be relatively controlled, and may also be part of my blood sugar issues (it is connected with the potassium levels). It explains the episodes of muscle weakness that no one seem to have an answer for, and why all muscle testing always came back negative. Even some of the EKG abnormalities I was having can possibly be attributed to potassium-related arrhythmias.

Only weeks after thinking we had ruled out any suspected genetic causes for my symptoms, my endocrinologist happens to meet with a colleague (who doesn't normally meet with endocrine departments but made an exception because he knew my doctor) who happened to be promoting the first FDA approved medication for a condition that happened to be the answer we have been searching for. What an incredible testimony of God's timing and sovereignty!

I've said before, and I'll say it again, one of the reasons I share my story on this blog is because I believe God can use my pain and my experiences to impact other people. I may never know much of that impact, but I trust that God does not allow our experiences to go to waste, even if we never see what that means on this side of heaven. But I would not have a story to share without the many people who have been praying for me for so many years. I know what it is like to feel like I am praying but never seeing the fruit of those prayers. I hope that those of you who have been praying for me for so long can see that your prayers have not been in vain. None of my diagnoses came out of "normal" circumstances. All were what would otherwise be called happy accidents or coincidences without faith in our incredible God. Thank you for helping to move mountains that have so deeply impacted my life.

We are hoping that as we work on getting this better controlled, my mast cell disease will also calm down. Mast cells are known to react to anything and everything. Electrolyte imbalance, falls, low blood sugar, etc. can all be triggers for mast cell reactions. If treating the HypoPP means those symptoms are better controlled, we are cautiously optimistic that the baseline mast cell symptoms I am still dealing with daily may also become better controlled. It is exciting to realize there is so much potential for what this diagnosis may mean for me! Please continue to pray, though. Unfortunately, the new FDA approved drug that my endocrinologist was so excited about is made with ingredients that I am allergic to. Right now we are trying to see if there is a different formulation available or other similar medications that may work. So there are still some mountains that need moved, but we are hopeful and encouraged.

I had so been hoping the genetic testing would have given us answers, but somehow, this feels even better knowing without a doubt it was a God-thing. I certainly wish that things didn't always have to seem so complicated, but I am thankful to have these glimpses of God's sovereignty in the midst of disappointment that are incredible reminders of His faithfulness and goodness.

So when I say things have been busy, I meant it! But we are very thankful. Now we're starting to figure out how to best manage this new diagnosis along with the current issues we've already been dealing with. Like I said, we hope that as we figure out how to manage each within the context of the others, we hope to continue to improve my symptoms and overall health. It does feel a bit overwhelming to be trying to see whether any previous treatments may have unknowingly been making this worse and trying to figure out how to manage a few different issues that appear to need completely opposing treatment, but we're encouraged and hopeful that we're moving in the right direction. Thank you for all your prayers and for rejoicing with us as we get answers!

Wednesday, June 6, 2018

Poor Leni Bean

Leni was sick last week.

Now, I've grown up with animals. I can't remember a time without at least one dog in the house. I've owned guinea pigs, bunnies, fish, and a horse. So I'm used to the normal puking episode here or limping there. Not to mention my own health issues which mean that I'm not someone who runs my animals to the vet at the slightest sniffle. So when I say 'sick,' I mean things were NOT good.

Around 9 pm I left the living room to head to bed only to discover that Leni had thrown up all over our bed. All. over. everything. Three pillows were beyond washing and had to be tossed. The other pillow cases, comforter, and sheet had to be soaked before starting a wash cycle. (I have never been more thankful for my GI issues because that meant a moisture resistant mattress protector saved our mattress from a similar fate). In the midst of dealing with the explosion in our bedroom, we heard the now-dread-inducing sound of Leni about to throw up in the living room. Thankfully the rug was easier to clean than our bedding.

By 10 pm, we had gotten things in the laundry, replaced the sheets and comforter on our bed, and borrowed a few pillows from our guest room. The living room rug was clean again and everyone was finally settled in bed. Until we heard the unmistakable sounds of Round 3... This time Leni managed to soak her bed, the part of the (just replaced) comforter that happened to be hanging down on the floor, and the carpet in close proximity. (Let me just mention that our house is ENTIRELY hardwood floors and tile...except in our bedroom and the living room rug...thanks, Leni, thanks...) The dog bed ended up being casualty #4 on the night, and comforter #2 was rinsed to prepare for the wash once the first load was finished. The carpet was scrubbed multiple times, until it passed Nick's sniff test. (Another side note, having the inability to smell has never before been such an asset!)

This time, we got smart. There is a small corner of our (carpeted) bedroom that is tile. After Round 3, we decided to barricade Leni on the tile for the rest of the night on the theory that at least tile is easier to clean. Only we felt bad that she only had the hard tile to sleep on...so we left the door mat to provide at least a little cushioning...guess where Round 4 hit??? The towel that we put down in place of the door mat was the victim of Round 5. Round 6 happened (on the tile) while I was in the bathroom dealing with my own GI issues...are Leni and I in sync or what??? Between me and Leni, none of us got much sleep that night.

Round 6 happened about midnight. At this point, we're getting concerned. Six times is a lot to be throwing up, and the volume we had to clean after each episode was not going down. Leni was definitely not her normal self and was acting quite lethargic which only made me even more worried. We called the emergency after hours line and spoke to the on call vet to decide if this warranted a trip to the emergency clinic. Since we were still under their threshold of get-to-the-vet-asap (8 episodes in 12 hours), we decided to keep an eye on her the rest of the night and re-evaluate in the morning. Leni seemed to have finally settled a bit, so we hoped the worst was over.

The next morning, Leni was almost back to normal. She was eager to run in the yard, hungry, and wanted to drink. I was cautiously optimistic that she was over whatever she had gotten into that triggered all the vomiting. We still kept her on the bland diet recommended by the vet to keep things easy on her stomach for a few days, but she was acting so much like herself, I decided to bring her with me for a couple hours at school. She wanted to come, plus I wanted to keep an eye on her, so I hoped everything would be smooth sailing.

About 30 minutes after we arrived at school, Leni threw up again. At that point, I called the vet and made an appointment for later that day. Before we left, she threw up one more time. Poor Leni Bean. She still wasn't acting as sick as she had been the night before, but she was definitely not feeling well. I was concerned that she potentially had a bowel obstruction. I wasn't sure what else could be causing her to throw up as much as she did both on an empty stomach and after eating. Her abdomen wasn't super distended, but she is a barrel-chested dog which can make obstructions easier to hide.

Thankfully, after blood work and x-rays, the vet was able to rule out an obstruction. I breathed a sigh of relief because even though I knew she was still sick, the likely options for sudden onset vomiting were more manageable than bowel surgery. The vet suspected that Leni picked up a virus of some sort that just had to work its way out of her system. She was given some medication to prevent the vomiting and some subcutaneous fluids because she was quite dehydrated after so much throwing up. The vet also gave some bland, easy-to-digest soft food to keep her on through the weekend. I left feeling reassured that Leni was okay, but still concerned about my not-so-goofy poodle.

When we got home, instead of immediately running to the door to go outside, she curled up on the couch with me (and a towel within easy reach) and just snuggled. Thankfully, within the hour, she was up and asking to go play in the backyard. I was very glad to see her running around hunting chipmunks and playing with her squeaky ball. The vet called back the next morning to check on how she was doing, and thankfully I was able to report that she was back to her normal poodle self.

It was a long 36 hours, and I am very grateful it wasn't any longer and Leni seems to have bounced back quickly (although we do still need to put some weight back on her). But it was also an eye opening experience for me as a service dog handler.

Like I said, I've grown up with animals. I've had to deal with sickness, injury, and putting beloved pets down. And all the feelings of concern and worry and what ifs were no different with Leni. Expect in some ways, they were completely different. As my service dog I rely on her so much. When she was sick, not only was she experiencing out of control symptoms, but I lost some of the control I have over my own body.

I'm unaware of my low blood sugar until I'm about to pass out from it. With Leni out of commission, I had to set a timer on my phone to check my sugars more frequently, and I still had multiple lows that I caught quite a bit lower than Leni catches them because I didn't know they were dropping until I tested. Thankfully I didn't have any major allergic reactions when she was sick, but I did have two that progressed quite a bit past where I normally treat and was bordering on potentially needing epipens until I managed to get them under control with extra medication. I realized how much I really do depend on Miss Sassy Pants Poodle and how much a part of my life she has become.

Losing a pet is heartbreaking no matter what, but the thought of Leni possibly having a major bowel obstruction held a heaviness and a weight to it that I didn't realize was there until the vet gave us the all clear and I felt it lift. I have loved every pet I've owned and Bonk is a huge part of our family, but there is a difference with Leni because she is not just a part of the family but has become a part of me to some degree. Without her alerts, I felt a bit lost because I was so used to being able to trust her. She is more than my safety net, she is the harness that keeps me from needing the safety net. You should never rock climb without a harness, it's just a part of the sport. Leni has become a part of me, and when she wasn't there, I felt like a part of me was missing, too.

Thankfully, my spunky, sassy, goofy poodle is back by my side. Although when we had a follow-up with the vet, she definitely remembered that she was not a fan of being stuck with needles and poked and prodded. I told her to suck it up...yep, things were back to normal =)  Hopefully we'll both get a bit of a break from seeing doctors for a while! At least Leni should be able to do that...

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 input...right...so 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 disease...at 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.

Chantelle
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."

Meghan
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)
http://www.hospitalprincess.com/
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.

Arielle
https://abcdmcas.blogspot.com/
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.
Mairead

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.

Kelly
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.
Brittany

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 on...so Major Issue #2 is mostly my fault.

We could not leave Leni in ski patrol without her barking, whining, and pawing at her crate...to 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 effects...so 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!