Category: rare disease

Not So Rare.

This is going to be a long one… so, either close out now or get comfortable, I guess.

Lately, I have been trying to go through some things quietly because I don’t know how to express myself, perhaps. If you know me, you know that it is a rare day that I don’t know how to express something. My journey with rare disease officially started with my diagnosis of Fabry’s in October of 2013. It has been a weird and long road since then. It really started long before that. Obviously, since this is genetic, it technically started at birth.

 I honestly think that it really started for me when my mom had a heart attack at age 49. At the time, we had no idea about the Fabry’s. We just knew she had an early heart attack that wasn’t actually caused by blocked arteries. It was weird, but it was real. Some time after that, a cousin was dealing with kidney disease/failure for unknown reasons and thankfully a doctor decided to dig deeper than just treating the symptoms. A genetic panel revealed the Fabry’s. Then, my uncle had a massive stroke in his early 50’s, which ultimately brought him to his death 5 years later. That was just over a year ago.

Since he passed, I have been fighting some internal struggles as I was not treating my Fabry’s. For the record, I was being compliant and working with doctors to basically cautiously wait. It was pretty much agreed upon that if I started showing any major changes or symptoms, I would start treatment. At that time, the only treatment available was an infusion every other week that took hours. Obviously, that is a lot to absorb into my life for any of you that know the kind of schedule I keep both at work and in my personal life. I also was cautiously waiting because there was a pill form of treatment that was being studied at the time.

Since my uncle passed, my stress level about cautiously waiting has skyrocketed. I made the decision a year ago to start the pill form of treatment. It sounds simple, but not so much. I had to undergo more genetic testing to ensure my genetic variant (basically the piece of my DNA that is broken) was amenable to the pill form of treatment. I also am dealing with navigating through patient assistance and other issues related to paying for this med. It is over $300,000 a year, so we aren’t talking about a med I can go to the local pharmacy and grab on my way home from work. So, last May I started working through all of this and thought my care team was on board.

Fast forward to today… almost a year later, and I am in the process of hopefully securing a new care team. Without going into too much detail, I stopped hearing from my previous doctors and in spite of leaving messages and other things, I am still sitting here not being treated. In addition to that, I was able to access my medical records and a year ago, there were some alarming changes in some of my cardiac tests. As I stated above, my mom had a heart attack in her late 40’s. I am 37 today… and, as you can imagine, cardiac changes definitely scare me. I am hoping that I will be able to better understand what is happening in my body soon and that I am on the path to treating this damn thing.

I guess that’s my back story… as far as my mention of dealing with things quietly, that has more to do with the mental stuff. Obviously, the pandemic has brought with it a myriad of mental health issues for so many people, and I was not exempt from that. Add in rare disease, a couple deaths in the family, and trying to navigate getting the right doctors in place, and my anxiety level has been high. It has definitely been worse the last several weeks. I feel myself withdrawing a lot more and trying to internalize things because I don’t want to force my problems on anyone else. Anxiety will also have you thinking you are having a heart attack sometimes, which doesn’t help anything.

You want to know what the toughest thing about all of this is? No one understands this disease. Hell, half the time I have to bring my doctors up to speed on what it even is. Trying to talk to my friends is basically pointless. They can’t relate so they don’t have anything to say, and I feel more alone when I do try to talk to them. My family understands and I love them for it, but sometimes I just want to talk to someone outside my family unit and have them understand. Sometimes I just want to cry and its hard to do that except when I am by myself.

I have tried really hard to be a voice of positivity in all of this, and I generally have a very good attitude about it all. My life is better because I value it more. I take the trips and do the fun things. I spend time with those that matter to me. I rarely turn down a glass of wine and conversation with a friend. That said, I still have some really down days and lately I feel like I have been dealing with the less positive side of all of this. My heart hurts and my spunk is lost for now. I am scared, more often than I want to admit, about what could be next for me and my family. Losing people you love sucks… and watching them suffer also sucks. Worrying about if an when something might happen to you also sucks. Its just the truth, even if it sounds negative.

I am hopeful that I can start treatment soon, but I am also just going through a lot of emotions right now. Despite this having been going on for so long, some days I feel like it is brand new to me. The reality of it has always been there but it is hitting hard these days. I know that I will be around for a long time, or at least I assume that, but it sucks to be 37 and really wondering if I will be dealing with major heart problems sometime in the next 10-15 years. Mostly, I just want to feel comfortable and safe talking to people. I want people to at least try to understand and be willing to let me vent. I don’t want to be dealing with this by myself. I don’t want to be crying alone anymore.

 I know that I am not the only one dealing with this kind of dilemma and I just hope that, if nothing else, maybe my experience will be relatable to someone who is struggling similarly and that they will know that they aren’t alone.

Beautifully Bipolar… A Mental Illness Story.

Here’s the thing about mental illness, you don’t know how to navigate it unless you have it, but even then, you don’t know how to navigate it.  I spent a lot of years thinking so many things I was dealing with were just normal things everyone goes through and that I was probably over exaggerating…

mindfulmeanderings's avatar by mindfulmeanderings

Low

A low point. A lull. A dark place. Depression. I would put money down on the fact that none of those words or phrases sparked good feelings in you. Yeah, me either. However, sometimes they are my reality… like right now. I am in a pretty weird place mentally right now. I can’t explain why…

mindfulmeanderings's avatar by mindfulmeanderings

Secret Time…

Secret time… I am a fitness junkie who is unhappy with where my body is at right now. Like so many others, I gained some weight in the last year or so. It feels like a dirty secret to say that I am not in love with my body right now. It hurts my heart…

mindfulmeanderings's avatar by mindfulmeanderings

Taking on Water

One year ago, my body tried to tell me to slow the hell down. One year ago, I might’ve been the worst listener on the planet.

Here’s the thing about our bodies… THEY KNOW. They try to tell us when we are going too hard, doing too much, and stressing too hard. Have you ever been in a life situation where you were proverbially taking on water and you knew it, but instead of fixing the problem, you just kept going until your ship sank? That is what I did last April. Bear with me, this is going to be a long post…

It started out simple enough. I woke up on a Sunday morning feeling crappy, lethargic, and exhausted. I ran a few errands and quickly realized I needed to lay down. I spent half a day in bed and decided to randomly check my temperature because of how I was feeling. 102… so I took some ibuprofen and went back to bed. The first of several critical mistakes came the following morning. I had a crazy busy six-day work week full of travel and chaos. Trips to Wyoming, Eastern Montana, and a medical conference requiring me to be out of town even on a Saturday. These weeks are not entirely uncommon in my work life, but this was a particularly busy week. I woke up on Monday still running a fever, and instead of resting like I should have, I packed up my car and grabbed some ibuprofen and took off for Gillette, Wyoming. I think back to this moment now and say to myself “what the hell, Kristin?”

I guess I assumed that the fever would resolve, and I’d be fine. That first night was when I noticed that I was getting these red blotches on my legs, but I assumed it was a side effect of the fever. My appetite was shot but again, just the fever, right? It’ll be better tomorrow, right? It wasn’t better tomorrow, or the next day, and the red blotches just kept multiplying until I had a solid rash covering my arms and legs. Wednesday night and Thursday were where the situation got ugly. I was alternating ibuprofen and Tylenol every 2 hours. Setting alarms all night because if I missed a dose, the fever would sky rocket to 102/103 so fast. I worked all day Wednesday and was supposed to get on a little tiny plane to Sidney, MT on Thursday. Wednesday night, I started vomiting… like a lot. I had barely eaten since Sunday. At 4AM on Thursday morning, I ended up canceling my trip and calling in sick. I was in a hotel room in Billings, MT but I was such a mess that I just had to rest. Friday, I still got up and went to work despite not really feeling much better. I was working a conference where there were two-hour time slots between times when we needed to be at the conference center and I was going to my car to sleep between every session. At this point, I even had rash on my chin and face that I covered with makeup. I had to go out and buy a long sleeve shirt to wear that day, so I could cover how bad this had gotten. When I finished working that day, I went back to my hotel room and laid on the bed and cried. Then I started throwing up again and laying there on the floor of my hotel room in between. At about 6:30 that night, I decided I couldn’t take it anymore and went to the doctor.

Shit got real quickly. The walk-in doctor gave me some Tylenol because my fever was back up and immediately sent me to the ER. Keep in mind, this is all happening in Billings, MT which is 3.5 hours from home. In the ER they hooked me up to IV’s and started running every lab test known to man. The ER doctors were very bothered by the fever with a rash and somewhere around 10pm, they told me I wasn’t leaving. I called my husband and told him to get ready to come down, but in the morning when it was light and safe to drive. Thankfully, my brother and his wife as well as some great friends live in Billings. They came to the rescue and hung with me because I was terrified about an impending hospital admission.

At the end of this, I spent 3 nights in a hospital bed on a lot of drugs. I had given myself aspiration pneumonia on top of the weird unknown virus that I had. I was severely dehydrated; my kidneys were in an acute state of distress called AKI (acute kidney injury) from dehydration and all the ibuprofen I had been taking. Additionally, my liver was really pissed off from Tylenol. They never did figure out what the virus was, but they made me stay till the fever had mostly resolved and the rash had started to look better. It was awful, and I have so many regrets about my epic failure to listen to my body. When all this happened, I did not put a ton of info out there. Lots of people knew what had happened but I didn’t go very public because I was exhausted and a little embarrassed by how dumb I was.

Now, looking back, this was an important moment in my life. Not only did I learn a valuable lesson about taking care of myself and listening to my body, but I also ended up making an epic comeback. The last year has been full of growth. I am talking about the kind of personal growth that only comes from facing something tough.

I had literally started doing CrossFit about two months before this happened. I was making some gains. Let me tell you what… if you want to see rapid strength loss, a hospital bed is the place to be. In a week, essentially, I lost 20 lbs. After I got out of the hospital, I was told to take at least another week off from work and working out. I was so exhausted even though I was on the mend, so I absolutely needed that time. Going back to the gym was so terrible. The first day, I remember we were doing back squats and that was when I realized how weak I was. I had to bail on a squat and I walked to a wall and kicked it because I was so angry. The second day, I cried through a bunch of thrusters. The pneumonia made everything cardio feel like actual death. That damn pneumonia took almost 8 weeks to recover from fully. On top of that, my white blood cell count was elevated for 8-12 weeks after I was “better.” It took so much mental tenacity to keep showing up and keep working out. I can tell you right now that if I hadn’t been surrounded by coaches who totally committed to helping me get through this and a support network of workout buddies who cheered me on and pushed me to show up even when I was crying, I’d have quit.

Those of you who know me, know that I have rebounded fully and then some. I am stronger and faster physically than I ever was a year later. On top of that, I learned so much about my ability to fight through tough stuff. I learned how strong I am as a person. I also learned to let go of “I can’t” or “I’m afraid” and set some serious goals and work my ass off to achieve them. I learned to be open about struggles, because we all have them. I learned to take leaps out of my comfort zone. I learned that a little confidence in yourself goes a long damn way. I learned that I only have one body and I need to listen when it needs something. I learned that I have a fierce and supportive group of friends who have my back and will take care of me when I need it most. Embarrassed as I was that I essentially did this to myself, I am so grateful I went through this. It drove me and taught me a lot about who I am.

In all of this, there are a couple big takeaways. LISTEN TO YOUR BODY, PEOPLE! Rest when you need it! Don’t continue taking on water until you sink. Ask for help. Do whatever you need to so you can ensure you have time for self-care, no matter what that means. Secondly, don’t ever let a bad situation of a little adversity take you out of the game entirely. Use it as fuel for your fire. Keep pushing, strive for more, and I promise you’ll be better for it.

For those of you that read this far, thank you for sticking with me… I know it was a long one, but I hope it was worth the read.

Why I Live Everyday Like It’s My Last…

I have a rare disease. It’s just a part of who I am. It’s not simple, it can be quite the opposite.

In the Fall of 2013, there was so much going on in my world. I had just finished training for my current job. I had finished my degree that Spring. Life was in transition. We had just found out my mom had inherited a rare genetic disease called Fabry’s and there was a lot going on with that. I got tested in September of 2013. The genetic specialist really didn’t think I was going to test positive based on what he saw. I had high hopes that I was going to coast by this thing and only have to passively deal with it as a thing in my family. We knew the disease had lots of potentially scary things attached to it. Things like heart disease, kidney failure, higher stroke risk, etc. Then came the day in October that the results were in and Shodair Hospital called me to say, “Your test came back positive, you have Fabry’s…”

Funny thing, I can tell you exactly where I was sitting when I took that call. I think I even know what I was wearing. Even funnier, I don’t remember my reaction. I don’t remember if I cried or sat there in shock or what. It is like I blacked that moment out except for mundane details like location and the outfit I was wearing.

To give a high-level overview, Fabry’s is an X chromosome linked genetic disease. Mothers have a 50% chance of spreading it to their kiddos, regardless of whether they are male or female. Fathers will pass it on to 100% of daughters, but fathers cannot pass it along to their sons. That’s all genetics. We all have all these enzymes in our bodies that keep us functioning. Most of them break down basic body wastes to make them easier to transport out of the body. Having Fabry’s means that I don’t produce enough of a certain enzyme. The waste products that don’t get broken down by this particular enzyme build up in the heart, the brain, and the kidneys, among other places. Unfortunately, this build up can cause the death of the tissues and muscle that make up those organs. When that happens, heart attack, stroke, and kidney failure are all very real possibilities.

That said, a lot of things changed for me on that day in 2013. First, I get to have a million tests every year to make sure I am healthy and that nothing is wrong with me. I also get to live in hyperbole because when I say, “a million tests”, it is really about 10. But hey, it’s a lot more than I ever had to have before. There is a treatment available via IV infusions that needs to be done every couple of weeks. I am not currently being treated, but rather keeping an eye on baseline tests and ensuring that I am not seeing any changes that are alarming. We call it watchful waiting. This is a personal choice, and I know some people don’t understand why I’ve chosen to hold off on treatment, but it is 100% my choice and only for me to understand. At the end of the day, I am still healthy and none of my baseline tests have shown any reason to be alarmed. The second that we see changes, I will have to reconsider my current stance. Honestly, I am never sure that I am making the right choice, but know that I didn’t arrive on foregoing treatment lightly.

This post is not about sympathy, at all. In reality, some really great things have come from this diagnosis. I try hard to take care of myself, mentally and physically. I work out regularly because it helps me physically, but more than that it helps me to sleep well and relieves stress in a way I can’t get anywhere else. I prioritize my relationships with people and go out of my way to spend time with the people that are important in my life. I think this is because, if anything, I have learned that you never know what could happen tomorrow, so take care of those who take care of you. I try not to miss out on opportunities to do the things I want to do. I am a big proponent of taking the trip you want to take, seeing things you want to see, and taking care of yourself when you need to. As I write this, I am in my pajamas, that I’ve been in all day (well, after I worked out this morning). Why? Because I’m tired today. I need downtime, so I am taking it.

Lessons I have learned from all of this:
1. Life can be short, so don’t take it for granted.
2. Control the controllable. I can’t control the fact that this happened. I can control how I handle it and make sure I take care of myself.
3. Be good to the people you love. You never know when something crazy might happen and you might need a shoulder to lean on.
4. Find a way to do the things you want to do while you can enjoy them. Go to Europe, learn to surf, take on CrossFit at 33. 😊
5. Don’t hold grudges. Ever. Resolve your issues with people and move on and keep loving them.

I hope all of you reading this have a wonderful Easter weekend full of family and fun. I appreciate you taking the time to read my ramblings!