Monday, February 29, 2016

Rare Disease Day 2016

Happy Leap Day!

It is only fitting for a day to raise awareness for rare diseases to take place on a day that only comes once every four years!

According to the National Organization for Rare Disorders, there are over 6800 identified rare diseases. In the United States, a disease is classified as rare if there are fewer than 200,000 people diagnosed with that condition, and it is estimated that approximately 1 in 10 Americans has been diagnosed with a rare disease. Since most of us know more than 10 people, it's safe to say that we all probably know multiple people impacted by a rare disease.

One of the comments I hear most often is "Well, you look good!" Out of those 6800 rare diseases
almost 90% are considered invisible illnesses. That means that you may never know anything is wrong unless they tell you.

Want to know the most staggering statistic about rare diseases?

Of those 6800 identified rare diseases, 95% have no FDA approved treatments available for patients.

Let that sink in for a moment.

For almost 30 million Americans, there are ZERO approved treatment options for their disease.

As a mast cell disease patient, I fall into that category. If you've been around this blog for any amount of time, you've probably caught a glimpse of what that looks like.

It means no clear cut answers. We do our best to treat the symptoms, but when new symptoms appear or the medications don't seem to be working anymore or the side effects are as bad or worse than the symptoms they're suppose to treat, we're left desperately grasping at straws for what to try next.

30 million.

That's how many Americans spend hours, days, and months seeing doctors and living in hospitals with NO ANSWERS because there are none. I live in that category, and I know the desperation that comes when symptoms are out of control, doctors have no answers, and I'm left curled up in pain crying in the bathroom because there is nothing else for me to do. NO ONE should have to make the decision of whether or not to go to the ER because the reality is that there is nothing the doctors can do yet symptoms are out of control again.

Last week I posted about starting a new treatment, Xolair injections. We have been trying to get this approved since November. Technically it's still not approved, we just got a sample injection to try in the meantime. Xolair has been having incredible results in the mast cell community, yet it is still taking us 4+ months to get insurance approval, and I'm not alone in that. Why? Because it's not an approved treatment for mast cell diseases. Mast cell diseases still aren't considered a billable diagnosis to insurance companies yet, so any treatment for them is denied as either "not medically necessary" or "not proven effective for the stated condition." So what are we supposed to do, just wait around until they finally decide mast cell diseases actually exist?


We make noise. We educate the nurses on staff with our insurance companies who have never heard of mast cell diseases. We bring published peer-reviewed journal articles to the doctors and nurses that care for us so they can understand our bodies a bit better. We take time out of our lives to share with anyone who asks about our service dogs or feeding tubes or other medical devices just to get word out. We do everything we can to raise awareness for mast cell diseases so families who are just starting on this journey that has changed our lives don't have to live without hope of treatment or answers.

Last week I introduced Sarah, my Running for Rare Diseases team partner. She along with dozens of other runners are running either the Boston Marathon or NYC Marathon to fundraise for the Undiagnosed Diseases Program at NIH. The format of the R4R team is that each runner gets paired with a patient partner (in this case that would be me =P) to make the reality of what living with a rare disease more tangible. Many of the runners work at companies that are dedicated to research developing medications for these rare diseases that have no approved treatments. Through this partnership of the runners and patients, the goal is to raise awareness for the desperate need for research and funding in the rare disease community.

So today when you're having fun Leap Day celebrations or just going about life as normal, PLEASE, take a moment to consider supporting Sarah and me and the R4R team. We cannot raise awareness without an audience, so thank you for taking the time to read this. There is such a desperate need in the rare disease community for awareness and ultimately funding. So please, consider going one step further. Take just one more moment and share. Share this blog post, share your own facebook status, share a recorded youtube video, whatever works for you, but PLEASE, help us get the word out. If you would like to go step further and help us not only raise awareness but also funding for research, you can give on Sarah's R4R team page here.

Alone we are RARE, together we are STRONG!

Thank you for helping to be our strength today to raise awareness for Rare Disease Day and everyday to remind us the we are not alone in this season of life.

Thursday, February 25, 2016

Meet Sarah! My R4R Runner and Teammate!

If you've been around this blog for a year or so, you may remember my post about joining the Running for Rare Diseases 2015 Team. I am so excited to share that I am going to be a part of this incredible organization again this year!

The Running for Rare Diseases team is not unlike other charity organizations that you may have seen on race courses, except for one key detail. The R4R team brings together a runner and patient to form a partnership to raise awareness for rare diseases. The runners get the chance not to just fund raise and race for a cause, but also to get to know a patient from the community they are representing. The runners may not have known a rare disease patient prior to joining the team, so the cause is no longer just an idea, but becomes personal as they get to know their patient partner. As patients, this gives us the chance to speak out and raise awareness about rare diseases and the desperate need for diagnosis and funding in a way that we could not otherwise do on our own.

The motto of the R4R team is "Alone we are rare, together we are strong." Alone I am just a patient with mast cell disease, together with the R4R team, I am one of many raising awareness for rare diseases and fundraising for better diagnosis and treatment options for others in the same situation.
That being said, I'd like to introduce my R4R runner for 2016! Meet Sarah Batchelder! She lives in the Boston area with her husband and is training for the Boston Marathon on April 18, 2016. She has run 12 marathons (many for other charity organizations) and is going for lucky number 13 with the R4R team.

Here is some Q and A to help you get to know Sarah (her answers are in blue below):

When did you get into running?

I started running when I was a freshman in high school, many many years ago! My friend recruited me to the cross country team and I ended up running all throughout high school. I was a hurdler and high jumper.

How many races (5k, 10k, half marathon, marathon, etc.) have you run?

I haven't kept track of all my runs but the marathons are a different story given the preparation and fundraising involved. I have run 12 marathons - 8 have been to raise awareness and funds for different charities.

What is your favorite race that you have done and why?

The Boston Marathon is my all-time favorite. It's really the best day to be in Boston. The crowds and sideline support is simply amazing. I'm excited thinking about it!

What do you do for a career?

I'm a registered nurse and work with a team of MS nurse educators who educate and support MS patients and caregivers on MS treatments.

Do you have any pets?

No, but we are looking for a rescue dog right now and hope to have a canine companion soon.

What do you like to do when you are not running or working?

I'd say doing something outside with my husband, Tim. The season determines the activity -  we love to x-c ski, cycle, hike, and kayak. I also love to bake, read, and garden. We also enjoy traveling and seeing new places and learning about new cultures.

How did you get involved with the Running for Rare Diseases team?

I learned about the Running for Rare Disease team at work. I wanted to get involved in a worthwhile cause and give back and also meet new people.

Why do you want to be involved in the rare disease community?

The awesome and unique aspect of our team is that we are paired with a partner. This marathon will be the first time that I am running for someone, Kylene, and I am beyond thrilled to have this partnership.

Sarah and I are excited to have been paired together and be a part of the R4R 2016 Team. I will be posting training updates from Sarah every so often, and of course, a race report after Boston, so stay tuned!

Tuesday, February 23, 2016

First Xolair Injection!!

It happened!!

After months of trying to get it approved, I finally received my first Xolair injection! When I got the call from my doctor yesterday saying they received it from the specialty pharmacy, it seriously made my day (especially since I had just finished the WORST blood work experience ever...).

It is technically still in the process of being officially approved, but they sent out a trial injection to start with while the rest of the paperwork is finished. My doctor called yesterday about 10:30 am, and they had an opening mid-day so I was able to go right then. That's a good way to start out a week =)

Xolair is an immunotherapy/antibody injection. No one is really sure why or how it works in mast cell patients yet, they just know that in many people, it does. Both Dr. Afrin and my local allergist felt that Xolair would be a very good option, and so we've been in the process of trying to get it approved since about November.

Since the mechanisms are not really understood yet, there is a lot that is unknown about Xolair still. One thing that is known is that there is a real risk for anaphylaxis from the injection. That meant that after I got it yesterday, I got to spend a few hours hanging out at my doctor's office so they could monitor me for symptoms.

I am happy to report NO ANAPHYLAXIS to the Xolair =) =) Yay! About 30 minutes before I was going to be allowed to leave, though, Leni got up from her deep sleep and came over to paw me. I immediately checked my blood sugar which was okay, so it was possible she was alerting to an oncoming mast cell reaction. I let the nurse know and asked if I could treat with my emergency medications. They agreed, so I was able to treat the possible reaction Leni alerted to.

About 20 minutes later, I started getting nauseas and itching on my arms where I got the injections. They kept me about 30 minutes after I was supposed to be able to leave to make sure my symptoms were not going to progress anymore. Thankfully they did not, probably due to Leni allowing me to start treating early so we could keep the reaction to a minimum. My doctor was pretty impressed and called Leni a "cool early warning system." What a good girl!

I've been feeling a bit "flu-ish" since the injections which are very normal side effects. My doctor said if I felt completely normal, THAT would be unusual. I've got some body aches, a slight fever, still a bit nauseas and itchy, and a bit of a headache, but that is all to be expected. There is still a small risk of anaphylaxis up to 48 hours post-injection, but so far I have no indication that things are moving that direction, we are just monitoring things for the next few days.

Once I get past the couple days of flu-like symptoms, we will be able to see how Xolair will impact my symptoms. It can sometimes take 2-3 injections to see an improvement, but many mast cell patients also see a benefit after the first, so we will see how I feel later this week. Assuming all goes well with my insurance (which is not really something to assume, but oh well...), I will get another injection in a month. Xolair has a half-life of 26 days which means after 26 days, there will be about half of the antibodies left in my body. At that point, the next injection will increase the amount of antibody in my system again to continue binding to the IgE receptors on my mast cells to help down regulate them (aka calm them down) so they are less sensitive to various triggers.

As with any treatments, there are always side-effects or things to consider. With Xolair, because it is an immotherapy treatment and binds to IgE receptors, in addition to calming mast cell activity, it also can suppress the immune system. Nick and I are already careful about me being exposed to infections and illnesses, but my doctor warned that we need to be even more vigilante. I am already considered "higher risk" if I do get "normal person" sick because my body reacts so oddly. Now I am also going to be a bit more susceptible to "normal people" infections which is not a great combination, but one we'll deal with. So if you see me wearing a mask anywhere, that's why!

Yesterday was special, not just because I started Xolair. This may not be the answer for me. Nick and I are well aware of that. But that doesn't mean that we can't stop and just enjoy some time in hope instead of discouragement and frustration. In the midst of a season of feeling worn down, exhausted, and spent, this was our rainbow yesterday. It was a reminder that even when there is no end in sight and we have no idea where we're going, God is still with us and sees what we don't. This was just a dove being sent out of the ark after a season of flooding. This dove may come back, but that doesn't mean there still isn't hope. We'll just have to wait a bit and send out another. Or maybe, this is the dove that won't come back.

I can't say this enough, but THANK YOU for your prayers. I am so humbled hearing that I am constantly being lifted up to God in prayer. Words truly do not express the emotion and gratitude that I feel toward everyone who has come alongside Nick and me during this season of life. It is still a weird place to be and at times difficult to be in a position of desperately needing so much prayer just to make it day to day. At the same time, I cannot wait to also share the joy and victory and healing that will come and is coming. A burden shared is halved, and a joy shared is doubled. THANK YOU for sharing in our struggles and eagerly waiting to also share in our rejoicing.

Tuesday, February 16, 2016


The irony of having to cancel a doctors appointment because I'm actually too sick to make it...possibly because I was too dizzy to drive or couldn't leave the bathroom because I couldn't stop throwing up.

The ticking time bomb that comes whenever it's time to clean the toilet and the directions say it has to sit for 30 minutes. Murphy's Law ALWAYS seems to kick in right then.

When preparing to move, the most important feature of the new place is the bathroom and the amount of storage available for all the medications and medical supplies. A normal medicine cabinet just isn't going to cut it. =P

Having Leni tattle on me to my physical therapist by alerting to an oncoming reaction just as I'm trying to convince her "I really am okay."

Having my co-workers think Nick and I are super romantic since we go on so many "date nights" until they realize that actually means an ER trip.

Always being cold, but needing fresh air to keep my nausea in Ohio...cue chilling under a heated blanket cranked all the way up and a dog on my lap with the sliding door open to allow a breeze that keeps my nausea at bay.

Making a last minute dash to the RiteAid down the street just before community group because I realized that our sink is stained with my stomach juices from draining my G tube, we're hosting this week, and we are completely out of Clorox wipes. (If anyone from our CG is reading this, yes, this happened last time we hosted =P)

Deciding how to arrange the bedroom based on putting my side of the bed closer to the door so I'm closer to the bathroom. Not just for when my stomach decides not to play fair, but also to cut down on the amount of objects I could trip over or run into on my way.

Realizing how important it is for me not to get pulled over when driving, because there is a good chance that I couldn't pass a sobriety test even when 100% sober due to my balance issues and muscle weakness.

When it turns out that I need x-rays, realizing it might actually be faster to go to our local ER rather than just an urgent care since at least the ER has my medical history on file. The amount of time it takes to go over my medical history is probably just as long as an ER wait.

Calling my neurologist to report my most recent passing out and her comment is "at least you didn't hit your head this time" in response to me telling her I broke 2 bones in my hand when I hit it on the dresser...and realizing how right she is....

Monday, February 8, 2016

My Feeding Tube Story

When was the last time you ate?

Since last night was the Super Bowl, I'm guessing for most people that's your answer. But the reality is that as simple as this question is, for many people, the answer is not so simple. When I'm asked that question, I'm not really sure how to answer.

If they mean solid food, it could have been weeks or longer. If thick liquids count, maybe days. If they mean tube feeds, then I'm probably running them as we speak. And then there's always the minor detail of whether or not I actually kept down any of what I ate orally. 

My first feeding tube was placed a year ago. It was an NJ tube that went through my nose into my intestine. It bypassed my stomach because my body had started to interpret digestion as an allergic reaction, and I was going into anaphylaxis just from eating. 

In the first 6 weeks of 2015, we made 7 ER trips and had one overnight admission just from me trying to eat. Something as basic and necessary as food was becoming a life-threatening situation. Put yourself in the position of knowing that every time you ate, you were at risk of anaphlyaxis. Doesn't matter how many times it happens, the feeling of not being able to breathe and having to stab myself in the leg with a 2 inch spring-loaded needle never gets easier.

The plan was for me to have the NJ tube for 6-8 weeks and in that time, find some treatment that would calm my mast cells and transition back to eating. As the end of those 8 weeks approached, though, it became clear that I was still not able to tolerate solid food or "normal" eating. In April of 2015, I had surgery to place a "permanent" feeding tube directly into my stomach.

My current tube is a PEG-J tube. It enters my body through a hole in my stomach below my ribs on my left side. I actually have 2 tubes (G and J) with the smaller tube running down the inside of the larger tube. The larger tube (G tube) goes directly into my stomach. This tube I can use to relieve pressure, and if needed, drain the contents of my stomach to help reduce vomiting and decrease the effects of my gastroparesis. The second tube (J tube) is about half the size of the G tube and runs through the stomach into the middle portion of my intestines. I run my feeds into my J tube. This allows me to bypass the most problematic areas of my GI tract (my stomach and top portion of my intestines) and still be able to receive the nutrition I need.

When I had my first feeding tube placed a year ago, I felt defeated. I spend so much time fighting my body just to be able to function, and it felt like giving in. When we had to make the decision for me to have surgery for my PEG-J, I was scared. It was never supposed to get to that point. The NJ tube was supposed to be temporary, and then I would be back to eating again. Instead, we were looking at a more permanent option since things didn't go as planned. I was scared what that meant for the future. At that point I didn't know if I would ever eat normally again.

Today, I still don't know when I will be able to eat normally again. But I can say I am thankful for my feeding tube. After I had the NJ tube placed, the ER visits and anaphylaxis were much less frequent. I stopped losing weight. I didn't have to force myself to eat knowing the pain and nausea and vomiting it would cause. I didn't have to sit at the table with an epi pen in my hand "just in case."

My feeding tube gave me so much quality of life back. I had more energy. I could enjoy short outings when before if I wasn't horribly sick, I just didn't have the strength. My weight is not longer critical, and I can receive the nutrition I need even when I'm unable to eat anything by mouth. I was able to go on a cruise with my family to Alaska. If I hadn't had my feeding tube, there is no way we could have risked that.

Don't get me wrong, I LONG for the day we can remove Herman (my feeding tube) and I only have a scar to remind me of this season of life. There are days that are painfully difficult to be unable to eat. My pain and nausea and vomiting are not gone entirely, but much more controlled and less completely debilitating. I can get severe pain where my tube enters my body when I have abdominal swelling and the bumpers holding my tube in place compress the wall of my stomach. There are days I just want to rip Herman out of my body and throw it across the room. I still have moments when I am in so much pain I can't move and so sick I can't even take my medications.

But I am thankful. Thankful to live in a country where I have this option. Thankful to have doctors who are doing everything they can to help me even when they don't fully understand my body. Thankful for modern medicine that is keeping me alive. Thankful for my feeding tube.

Monday, February 1, 2016

Happy February!!

Just wanted to share a blog post and say that I am glad that January is OVER. Not that I don't appreciate every day, but seriously, this was a rough start to 2016.

Not only did I get admitted for almost a full week, but I've been having insurance issues and have probably spent almost the same amount of time I was in the hospital on the phone with my insurance company. Can't live with it, seriously can't live without it...

I'll be honest, I'm tired. Tired of dealing with insurance companies. Tired to having to fix their mistakes. Tired of spending half my life at the doctors. Tired of pasting a smile on my face just so people don't know how bad I feel. Tired of having reactions when I'm not at home. Tired of having reactions when I am at home. Tired of trying to figure out what my symptoms mean. Tired of having new symptoms appear that make no sense. Just tired of being sick.

BUT it's a new month! Hello Februray! While I'm going to avoid setting any sort of expectations of what my health will do (cause let's be honest, my mast cell don't play fair =P), I am ready for a new month! February is a big month in terms of raising awareness in the chronic illness community. February 7-13 is Feeding Tube Awareness Week and February 29 (LEAP DAY!!!) is Rare Disease Day, so stay tuned for some posts about that.

I do have a bunch of doctor's appointments coming up in the next few weeks. I'm going back to my GI doctor in Pittsburgh this week to discuss changing my feeding tube and doing some scopes that I need done. Next week I see my PCP and allergist again. The following week I see another endocrinologist who will hopefully be able to offer some insight on my blood sugar issues.

Busy month! And that doesn't even include the fun stuff we have planned!

We are hopefully going to head down to Columbus for a day to talk with the trainer who trained Leni and get some more tips and advice on getting her alerts more consistent. Leni is doing great and getting much more in tune with my body. She is becoming a great partner for me and we are looking forward to getting her even more consistent with her alerts especially in distracting environments.

Later in the month, Nick and I are moving! We will be moving in with friends from church who have graciously offered their upstairs for us to live in. Since coming back to Ohio after Christmas we have been wondering if there may be something in our apartment that has been triggering some of my symptoms. Unfortunately, there is really no way to tell for sure, but since our lease is up soon anyway, we decided to get away and see if that helps. While we will miss living where we are right now, we're also excited for this move. Plus, it's going to shorten my commute to work!!

 Lastly, our church's women's retreat is coming up at the end of February. I wasn't able to go 2 years ago, so I'm super excited for this year. I know this seems like a small thing to pray for, but please pray that my body will cooperate so I can go and enjoy the retreat. There are so many things that I have missed because my body just wouldn't cooperate. Sometimes the disappointment of missing another event or meeting that I really wanted to go to is even tougher to deal with than the physical symptoms. So, prayers that my body cooperates February 26-27 are greatly appreciated!

That's what coming up for February in Bokatopia! We are ready to leave January behind and the rest of 2016 to start. Thank you for coming alongside us and praying for us. We are so grateful.

Happy February to you as well!