Saturday, October 31, 2015

PLEASE READ: We need your help!

THANK YOU for taking the time to read this. If you read my earlier post, you know that we are truly hopeful that Leni will be a big piece of the puzzle in terms of getting better control over my unpredictable symptoms. However, we cannot get her to that point without help from you as our friends and family.

Here's what you can do:

Ignore Leni.

I know, I'm asking a lot =P

But here's why:

When Leni and I are out in public, she is "on duty." She is not a pet but a working dog. According to the ADA, a service dog is considered medical equipment the same as a wheelchair or cane would be. I am allowed to take her with me because she is able to perform tasks for me that I am unable to do for myself. The main one that we are relying on her for is her ability to alert me to changes in my body so I am able to treat before I develop symptoms and avoid severe reactions. This means that when we are out, her focus needs to be on me.

I know it will be tempting to want to pet her and talk to her when you see us at church or school or in stores. PLEASE resist that temptation (please still come say "hi" to me, just don't focus on Leni). While she is very well trained and knows what her job is, she is not a robot. If she is distracted by petting and wanting to play (because she really is very friendly!) she is not able to do her job and could miss alerting me to an oncoming reaction. Please respect that and treat her like you would any other piece of medical equipment.

That being said, Leni is still a dog. When we get home and she is "off duty,"she is able to act like the 1.5 year old dog that she is. If you would like to meet her and play with her, let me or Nick know! We would love to have you over to hang out and meet the newest member of our family! Leni would LOVE to meet you (and Bonk would be super excited to see you too!).

Thank you for taking the time to read this. Please know that we do not want to be mean or rude, but we do need Leni's focus on me when we are out and about. There may be times when it is okay for a quick pet or greeting, but unless you ask us first and we okay it, please assume that Leni is working and needs to keep her focus on me.

Thank you for your support with this!

Friday, October 30, 2015

Race Report: Providence Marathon

No, I am not all of a sudden back to running...I wish!

BUT if you remember, earlier this year I blogged about being a part of the Running for Rare Diseases 2015 Team (read here). This team was formed with rare disease patients and running partners pairing up to raise awareness and fundraising for the Undiagnosed Diseases Program at NIH. I was paired with Fran Crofts as my running partner (meet her here!) who ran the Providence Marathon at the beginning of May.

I know it's 6 months later (and Fran is about to run her NEXT marathon!!), but here is her race report for the 2015 Providence Marathon from May 2.

This was my 3rd marathon start, and first marathon run on behalf of another. I found out about this opportunity through my employer and joined the team. The Genzyme Running Team exists to raise funds for the National Organization for Rare Disorders, specifically to fund additional testing of patients who seek a diagnosis for a rare disease. The GRT connected me with my patient partner, Kylene, whose name I wore proudly on my singlet. It was great to hear the cheers "Go Kylene" throughout the race, which reminded me of why I was running on this particular day.

It was a beautiful day, about 50 F at the start. I started very slowly based on my most recent marathon experience in New York City in November 2014, where I went out much too fast and struggled miles 12-26. For this race, the first mile was 11:30, second 11:45, third 12:00 - yikes, time to pick it up. By mile 7 or so, I picked up the pace to about 10:30 and was able to keep that up until nearly mile 21.

The race wound from the picturesque downtown, past several hills until a big hill at mile 6, then entered a residential area near the water where there were good, cool cross breezes and it was overcast. Around mile 10, the sun came out from behind the clouds and it was suddenly much too warm. Much of the second half was on a flat bike path. The hardest mile was mile 20 due to heat and fatigue. I slogged on a while longer and at mile 21.5 got a bit of a 2nd wind, and for the first time in any race over 10 miles long had a feeling that I had some gas left in the tank. I started getting excited around mile 23 when I realized it was completely within my grasp to beat my goal of 5 hrs. I finished in 4:50, thrilled to have beaten my goal. Thank you, Kylene for inspiring me!

Thank YOU, Fran for helping to raise awareness and funding for those of us that deal with these rare diseases every day! Being at a point right now where I am unable to run makes it even more real that we need awareness to get funding for research and ultimately find treatments and cures! It is cool to be able to "run" with the team even if I am not there in person and be cheered on by spectators. It is a reminder that just because living with a rare disease can feel isolating, I (we) will not be alone in this. THANK YOU to the Running for Rare Diseases team for encouraging us as patients as you run for us and the rare disease community!

Help me cheer Fran on this coming Sunday, November 1 as she runs the NYC marathon!

Thursday, October 29, 2015

Big News!

What do you do when you are the poster child for #modernmedicinefails?

What CAN you do?

For anyone living with a rare disease, and often just chronic illness in general, there comes a time when you realize that doctors really don't know more than you do. In fact, for me, a lot of times, doctors actually know LESS than I do. When everything that "should" or "might" help me doesn't work, sometimes you just have to take matters into your own hands...

Don't get me wrong, I'm still seeing way too many doctors (geneticist, allergist,  and endocrinologist in November, mast cell specialist in December, trying to get in to 2 specialty clinics sometime this get the picture) and still trying to figure things out, but we have decided that maybe there are other ways to better control my symptoms outside of what doctors can offer.

I've already tried a number of "alternative therapies" some of which have helped a bit and others have done nothing, so we are continuing to pursue other options. After a lot of prayer, hours of research, and God opening some doors, we have made a decision that we believe will help me gain some control over my reactions.

We have decided to increase the population of Bokatopia from 3 to 4!

No, I am NOT pregnant! But we are adding a member to our family. She is 1.5 years old, about 25 inches tall, and weighs close to 50 lbs. Her name is Lenore (aka Leni), she is a Standard Poodle, and she is my service dog.

Her primary tasks will be alerting to oncoming anaphylaxis, low blood sugar, and syncope (passing out). She is already trained in basic obedience and routine service dog tasks, and we will be continuing her alert training to be specific to the scents associated with my reactions so she learns to be in tune to changes in my body.

So that's our big news!! We are excited to welcome Leni to our home and hopeful that she will be a major part of my symptom management. Stay tuned for another post properly introducing her!!

Friday, October 23, 2015


Let's do some comparisons, just for fun!

Scenario 1:

You're relatively healthy, but all of a sudden start developing some new symptoms that could be not so good. You call your doctor and explain what is going on to the nurse. She may alleviate your concerns right on the phone, or schedules you for a same day appointment to see the doctor. If you do have to go in for an appointment, you'll likely walk out with some answers from the doctor either in the form of medications or suggestions.

Seems relatively straightforward, right?

Let's play again...

Scenario 2:

This time, you've got a chronic illness. For the sake of this purely hypothetical example, let's go one step further and say that you have a rare disease that is poorly understood by many doctors. Since you deal with symptoms on a daily basis, you don't feel the need to go to the doctor except when a new and potentially concerning symptom appears.

So let's say that happens. You call your doctor and he agrees to see you. So far so good. But since your new symptom is unexpected for your "normal" and unusual even for a "typical" patient, your doctor decides that it's beyond his scope and you need to see a specialist. Okay, fair enough, but since specialists only see special cases, and you don't yet have an established specialist for this new issue, you're at the back of the scheduling queue. 

When you finally get to scheduling, you are informed that the earliest possible appointment is more than 6 weeks away...but that's okay because it's not like you really NEED to see this doctor anyway, right? It's not like you're having repeated episodes of anaphylaxis and are frequently on "epipen watch" in case things progress all of a sudden to some unknown trigger...or that all of a sudden you can't walk well and had an inconclusive brain MRI so your doctor wanted you to see a neurologist to make sure things are okay...or that you started having very low blood sugars that won't seem to come up DESPITE being on continuous tube feeds...good thing or it might be SLIGHTLY hazardous to your health that you can't see these specialists for over a month...

And let's not forget that in all likelihood, when you finally get in to see the specialist, they'll tell you they have no idea why you've developed these new symptoms, have never heard of your rare disease or seen a patient like you before...BUT that's okay because at least they know the name of ANOTHER specialist who MIGHT be able to help you...

Oh, but wait, since this next doctor is now an extra specialized specialist, the wait time to schedule with him is now 3-4 MONTHS...but that's okay because it's not like you NEED to see him either, right? You're just in this because you have nothing better to, it's not like symptoms keep progressing in the mean time either...good thing, too, or you might be frustrated by the long waits and lack of answers...

Just seems ironic to me that the healthier you are, the easier it is to get in to see doctors and get answers to health concerns. The more you actually NEED medical help, the less likely your are to actually get it WHEN you need it.

Good thing this is all completely hypothetical, and I've NEVER had to deal with ANYTHING like this...

Wednesday, October 21, 2015

No news...

You know the phrase, "No news is good news?"

In the chronic illness world, "no news" usually means you are waiting...again...

Waiting on referrals...

Waiting to hear back from doctors...

Waiting on test results...

Waiting on insurance coverage...

Waiting on medications to be ordered...

Waiting to schedule with specialists...

Waiting for this season to pass... (sound like winters in Ohio anyone??)

So in the case of this blog, no news is not necessarily good news, it's just that...NO...NEWS...

We're waiting on referrals from my PCP to be able to apply for two specialty programs, one at the Cleveland Clinic and one at the National Institutes of Health in MD. We're waiting to hear back from my neurologist with results from the tests that were run to investigate the cause of my trouble walking and balance problems. We're waiting on my doctor to call in a prescription to my pharmacy to hopefully be able to monitor my blood sugar better. We're waiting on insurance issues to get sorted out so we are not receiving $750 ER bills that we shouldn't have to pay. We're waiting for a call from the scheduling department to get in with an endocrinologist.

Lots of waiting...

I get people telling me a lot "I don't know how you do it" or "You must be so strong" when they ask how I'm doing and I share that we still don't have any answers. I don't know how to respond to that...I'm not trying to be someone's inspiration or have super human strength in the face of adversity, I'm just doing what I can to keep my head above the water when I feel like I'm at the bottom of Niagara Falls.

If you were in my shoes, you'd do the same thing. You know why? Because you don't get a choice. I smile because if I don't, you'd be able to see the fear and uncertainty behind my eyes. I laugh and shrug things off because if I didn't, I'd probably start crying in frustration and discouragement. When you see me and ask how things are going, and I just smile and say "good," it's because I just don't have anything new to share.

That unfortunately is life with a chronic illness. There is no "getting better." There is hope for improvement and we ARE hopeful that one day I will have things managed much better than I do now, but I will live with mast cell disease for the rest of my life.

We hope that one day I'll spend more time with my friends than I do in emergency rooms and we'll be able to start investing in our own retirement plan instead of my doctors. We hope that one day our conversation starters are less "how are you feeling" and more "where are you going for dinner."

So when I say nothing much is going on health-wise, that doesn't necessarily mean that things are good or I'm feeling better. It just means that we have nothing new to share, my doctors don't know what to do, and we're stuck in the Bermuda Triangle of chronic illness, where referrals are lost, results take forever to get back, and nothing is being done in the mean time to help me feel better.

So right now, we have no news to share. I know, writing a blog post to share nothing...makes perfect sense...but we are still so thankful for all your prayers. Life doesn't get easier in the waiting time between doctors and referrals and prescriptions. If anything, those times are hard because there is nothing we can do but keep on keeping on and hope that maybe someday we'll hit the jackpot with a medication or treatment. It's during these waiting periods that your prayers truly carry us through.

We do the best that we can to manage on a day to day basis, but when doctors don't have much to add to what we already know, sometimes the waiting seems to stretch on forever. When I just get passed from doctor to doctor because no one seems to have any idea what to do for me, Nick and I are left on our own to try to figure things out for ourselves. We're getting honorary degrees out of this, right??

Thank you so much to those of you that reach out to me and Nick with encouragement or funny pictures or cute animals. Please know that the 2 minutes it took you to write a text or send a facebook message means SO much. I may not respond right away (or at all if it's been a rough week and I forget, sorry!), but please know that God is using every silly photo and emoji to brighten my days and lift my spirits.

Even thought no news isn't necessarily good news, God is always good and that's the best news of all!

Wednesday, October 7, 2015

It's my LIFE

I understand that I am not the only patient that my doctors see. I know that for most of the doctors I see, I'm the only patient they've ever had with mast cell disease. I get it. I don't ever want to be labeled as a problematic or demanding patient or the one that everyone dreads to see. I've worked in medical offices and I know what it's like to groan when certain patients come in. I don't want to be "that patient." I do my best to always have a smile on my face regardless of how I'm feeling. I try to be polite and respectful and not ask for special favors. But sometimes, I wish I could just look the doctors in the face and remind them IT'S MY LIFE we're talking about.

I was referred to a new allergist/immunologist by my PCP to look into some more specific treatment options that my mast cell specialist had recommended. The appointment seemed to go well, and I was encouraged when I left. He was going to contact my specialist in MN and come up with a plan of action. I was hopeful.

So we waited.

A month later, after not hearing from him, I followed up.

His nurse took my message, said he was out of town, but would get back to me once he returned. Then she called me a couple days later. The doctor had talked to a colleague of his who said that he was not sure my mast cell diagnosis was legit. So my doctor decided hat he had nothing to offer me. He did not contact my specialist and had no intention of doing so.

Like I said, I get that I'm not the only patient that my doctors see. I also understand that I'm a bit more complex than other patients may be. I'm not trying to ask for special treatment, but sometimes I wish my doctors would think about what goes on in between the appointments.

During that month that my doctor was supposedly contacting my specialist, he was still going about his every day business. He probably saw dozens of patients, wrote many prescriptions, and went home to his family at the end of the day. Did he ever once think about what that month looked like for me?

While I waited to hear back from the doctor...I had to use 2 epi pens, made 4 ER trips, missed Bible study and leading the high school youth group, had to cancel plans with friends and rearrange meetings at school. I threw up more times than I can remember, was too sick to walk from the bedroom to the bathroom to get my medications, passed out and gave myself a concussion because I hit my head, and spent many days and nights on "epi pen watch" and in a drowsy, drugged state trying to keep my reactions to progressing to anaphylaxis.


You made the choice that it was easier to not have me as a patient. But I don't get a choice. While you spent that month going about your business, I spent it HOPING I had finally found a doctor that might be able to help me. When I finally heard back after *I* called you to follow-up, it was just affirmation that as a rare disease patient, I am on my own to advocate for myself.

Most doctors don't like it when patients walk in to appointments with print-outs from online searches, or ask about specific treatment options, or seem to be well researched in their unusual medical conditions. But what are we supposed to do when we get brushed off by doctors more often than not and are left on our own to manage potentially life-threatening reactions???

I would like nothing more than to leave my care in the hands of a capable doctor who is truly invested in helping me manage my symptoms and regain my health. I have that doctor in my specialist in MN, but as a specialist 14 hours away, I need a local team of doctors who are willing to coordinate with him. When I get brushed off after waiting months to schedule and hear back from doctors, it may mean nothing to the doctors who dismiss me, but it just means that I have no choice but to be that patient that doctors don't like.

If they are not willing to help me, then I have no choice but to take control of my own healthcare. I don't like walking into appointments with an agenda and a list of requests for my doctor. I wish I could go in, just tell them my symptoms, and have them give me answers. But I don't have that luxury.

So to the doctors that I have to see in the future, I'm sorry, but I have no choice but to be "that patient" you I'm just another 30 minutes on your schedule, another name in your computer, but I've got a bit more riding on each appointment...