Category: family

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

Auld Lang Syne

So begins another new year, and all the resolutions that come with these sorts of momentous occasions. Change is good and for some people a big event like a new year is a great time to start a change. I am not one to be a huge believer in resolutions, but I do see value in them. I think that anything that promotes positive change in our lives, whatever that may be, is valuable. That said, I have been thinking about the year ahead and some of my goals and what I want to accomplish and started making a list of things I want to do or change in 2020. Writing things down makes them more concrete for me, so I thought I’d share.

1. Read more. This year, I want to immerse myself in more books. Fiction, non-fiction, self-help, etc. All of the above. When I am reading more, I feel more mentally stimulated. It helps me at work, as well as in the rest of my life. For me, sometimes “read” more means more audio books because of all the time I spend in the car for work. I do plan to increase my time spent listening to audio books, but I really want to spend more time with… wait for it… paper books. I don’t want my time spent reading to be screen time. Part of why I want to read more is to reduce screen time.
2. Write more. Writing is an outlet for me. It helps me center myself and refocus when I am struggling with life and all of its anxiety. When I initially started considering this, I thought about setting a finite goal like “publish a blog every week,” but that’s not necessarily reasonable. Sometimes I just don’t have an experience or feeling I need to write about. I do hope to publish blogs more often this year, so I hope you all enjoy.
3. Maintain a more positive attitude. This is something I have been working on for a while, and I do believe I’ve made progress, but this will forever be a goal. Life is a gift, and it is important to treat it as such. Every second spent in a bad headspace is a second that you cannot get back. Our seconds of living are not infinite. That said, maintaining a positive attitude does not mean that a person must walk around bubbly happy every second of every day. For me, it means little things like remembering that things don’t happen to me, they just happen, and how I handle them matters. It also means that having the “I can’t” attitude needs to be a thing of the past.
4. Minimize my alcohol consumption. In 2019, I made a lot of positive diet changes and got consistent with my workouts. One thing I continued to hold onto was my alcohol consumption. I don’t drink to excess constantly or anything. However, I am basically mentally trained to cure boredom with food and drink. It isn’t uncommon to fill a Saturday afternoon with “lets go grab pizza and beers.” While I do think this is something that is okay to do on occasion, its become a thing I do too often. It is often harmful to my training and doesn’t align with the fitness goals I have set for myself.
5. Avoid situations and people that don’t feel positive or happy. This goes back to maintaining a positive attitude for me. While I know and appreciate that I am very much in charge of my mindset, part of that is surrounding myself with like-minded, positive people and situations. I wrote a blog a little while back about a change of scenery and the importance of cheering each other on and not being in situations where an entire group of people are having a conversation that is nothing but bashing someone else. I meant everything that I wrote. I want to be in good situations with uplifting people whenever possible.
6. Stop minimizing my feelings and allow myself to be more vulnerable. You guys, I can be a lot to handle. I am so emotional. At my worst, I am sensitive, stubborn, difficult, and borderline depressive. I care about everything and I feel everything. At my best I am generous, caring, and always available to the people I love. I spend so much time trying to fit in a box and not be “too much” for people. While I do think it is important to have control over emotions, I also think its important to let people see me for who I am, even on the tough days. Looking back, I think most of the times in life when I have fallen into a longer term, negative attitude has been the result of burying feelings.
7. Stop worrying so much about what my body looks like and focus on what it is capable of. I have spent too many years thinking I weighed too much. 2019 was maybe the first year that I really started to appreciate all the things my body can do. We ask our bodies to handle so much, and really, we should appreciate them instead of hating them. I can lift heavy weights, do gymnastics movements, run long distances, and climb mountains, among so many other things. I have a lot to celebrate. I am physically capable of so much, so why do I still let a scale define me some days? That is some crap that needs to be left behind.
8. Take space when I need it. This is simple really. I do not need to be constantly available to the world. Of course, it is important to be there for friends and family, but it is also important to be available for oneself. I am done showing up for every little outing that comes up. This year I am going to take time away from people when I need it. I am going to give myself space to breathe. I am going to allow myself to say no and be okay with missing out on things. Mostly, I am going to allow myself time to reflect and be alone when I am tired either physically or mentally.
9. Prioritize sleep. Anyone who knows me knows that sleep is such an issue for me. I am either getting 9 hours of sleep or 3. I have a hard time falling asleep sometimes. I am on prescription medication to help me sleep. I am going to try to be as consistent as possible with bed time. From a training perspective, it is so important for recovery. From a life perspective, it is so important for a good attitude. Getting enough sleep is also detrimental to controlling my emotions.
10. Spend more time talking about the present and future than the past. We cannot change what has happened in the past, but we can sure as hell plan for the future. We can also be present in the now. I want to talk about hopes and dreams for the future with my people. I want to put my phone and other distractions away and be present to have these conversations in the moment.

 
I truly hope that 2020 is the best year yet for all of us. I really hope that in a year’s time I can look back at this blog and say that I made some progress towards all these things. It’s the roaring 20’s and its time for a glow up.

Grateful…

This morning I am sitting here in a particularly quiet house drinking coffee and thinking about how fortunate I am. Thanksgiving is one of my very favorite holidays because it is truly about spending time with family and enjoying a meal of foods that we don’t eat often. There are no gifts, no big productions (at least not with my family) and we get to just sit around a table and visit. I get the opportunity to get some cuddles from my nephews, and I can just relax and decompress for a whole day.

 

I was trying to think of what to write about this week and it occurred to me this morning that I have so much to be grateful for in this life. Instead of being too deep or introspective, this post is truly about all the things I am thankful for in this life.

 

First things first, I have an incredible husband who loves and supports everything I do… even when it is crazy. He is an amazing human being and I get to call him mine. We have gone through some tough times, and, let’s face it, who hasn’t? That said, we manage our tough times. We survive them, and we try to come out the other side having learned something and being better. I am so lucky for all that he brings to my life and I wouldn’t change anything for the world.

 

My family is my rock, and I am forever grateful for a support system and many friendships I was born into and married into. We are all very different people, yet we take care of each other. I often find myself looking around and feeling my heart swell at family functions. As this generation of my family is fighting through the growing pains of becoming adults with spouses, kids, mortgages, etc. I am so thankful to be the oldest cousin on both sides and to be able to occasionally give some advice because it means I get to hear from all of them regularly.

 

I have a tribe. They are hands down some of the best people I have ever encountered. I don’t know how I have stumbled into having the friends I do but I thank my lucky stars every day for them. I have the kind of friends that are family. We are there for each other, we cry together, we laugh together, and we celebrate each other every single day.

 

In 2018, I was also lucky enough to stumble into a gym family that amazes me with their support every day. I cannot believe the changes I have made this year and it is due in part to the people around me who have helped keep me accountable, cheered me on, and listened on my bad days. I can honestly say that I feel like I am at home at RPP. That’s how comfortable I am there, and I don’t think everyone has that luxury at the gym.

 

The truth is, these are just a few things that I count as blessings in my life. I could probably go on for days, but as I was thinking this morning I realized that it truly is the people in my life that are the difference makers. I hope each of you reading takes the time to express gratitude to your loved ones as we enter this holiday season. Be grateful, be kind, enjoy times with your people, and have fun.

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!

The Elephant in the Room

So, in the room of my life, there is a very big elephant. It sits there a lot just waiting to be brought up… and when it does, I always get a little bit uncomfortable. No, I do not have children. No, I do not plan to have children. Yes, there are people who make this choice for one reason or another. There are also people who choose to have children. Neither is wrong, nor are the reasons behind those decisions. They are very personal choices and I can say with a fair amount of certainty that they were not arrived upon lightly.

I got married 8 years ago, and at that time my hubby and I absolutely planned to have children. I wanted to have kids and I just figured we’d have the fairy tale life with a white picket fence, 2 dogs, a cat, and 2.3 children. You know, the quintessential American family. I think that my extended family really thought that would happen and hoped for it. Let me tell you what, life doesn’t always go as planned. Things don’t always work out the way you hope they will.

Unfortunately, 4 years ago or so, I was diagnosed with Fabry’s disease. I talked a little about that in a post a while ago, but essentially, I have a genetic disease that I got from my mother’s side of the family. It is linked to the X chromosome, and if I were to have children, it would be a 50/50 chance with each child that I would pass on the disease. If I am totally honest, this disease is total garbage. It’s no one’s fault and I have accepted it, but my family has gone through some serious hell because of Fabry’s. In some people, it is a docile disease. In the case of my family, it has resulted in heart attacks, strokes, and kidney failure for some of my relatives at a young age. Not fun stuff. The idea of passing this disease on to someone else knowingly is really hard to wrap my head around and not really something I wanted to do.

Coincidentally, I also started my current job just a few months ahead of my diagnosis. My job is amazing and I absolutely love it. I love the travel and the chaos of it. I wouldn’t trade it for the world. I have learned so much about myself since I started down this path. I also feel like I have really come into my own and accepted who I am as a person, which has resulted in my confidence being in a great place. Is it stressful? Yes. Are there challenges? Yes. Ultimately, it is worth it, completely. That said, while I don’t think it would be impossible to do this job with children, it would be hard for me, as an individual. I see lots of mothers do what I do every day, and I am enamored with them. I wish I could tell every single one of them how amazing I think they are without it coming off as a bit creepy. So, full time working moms, I think you are incredible. Keep doing what you do because it is amazing.

So, then there was a decision to not have kids. As far as I know, we can have kids without any issues. We just never got the chance to try. When both of those very monumental things landed in my lap, we decided to put off trying until we could digest all that was going on in our life as a married couple. A few months later, we had a very difficult conversation after a conversation with my genetic doctor. I will never, ever forget that conversation. We were driving home from Helena after one of my doctor’s appointments and a nice dinner, when I asked my husband if he’d be okay not having kids. I knew damn well that he would be sad about it. I recall even telling him that I wouldn’t begrudge him if he chose not to stay with me. That car ride was both amazing and difficult. He told me that while it made him sad, we would adjust and take care of each other, because that’s what you do when you love someone. Life throws us curveballs sometimes, but we must keep moving forward.

All of that said, I think I would be a great mother, but I am not a very maternal type really. Most people who know me well, know that is true. In hindsight, maybe it was a blessing in disguise that we made this decision, because as difficult as it was, I feel so lucky to have the life I do. Because of not having children, we have committed to doing all the fun things and traveling because we have the time and the luxury of doing so on a whim. I love being the “childless friend” that can be called at 11PM on a random Tuesday to go for a drink because one of my friends needs to talk. I can run out of the house in 5 minutes when things like that come up, and I love being able to be that person. I am also fortunate to have several friends and family members who have kids that I get to be an “aunty” to. This means I get to almost always be a fun adult to some of these kids. I also get to volunteer to give my mom friends and family members a break and take their kids occasionally so they can do whatever they want for a few hours or have a much-needed date night. How lucky am I, really?

There is a downside to all of this, and it gets a little dark. I feel a lot of societal pressure because I am not a mom. I know that this is within me, and very rarely do people make me feel like I am less of a person because I don’t have children. I can’t help but feel it though, so sometimes I feel the need to throw myself into work and volunteering because I want people to know that I am fulfilling some strange obligation. When the subject of having kids comes up, I kind of freeze up and get uncomfortable. I dread the moment when someone asks, “when are you guys going to have kids?” or “why don’t you have kids?” I HATE those questions because, without going into a ridiculous amount of detail, I can’t really explain it. I generally just say we aren’t going to have them and then pray that no one questions further. It’s a challenge, but mostly a burden I put on myself.

This might be the first time I have fully addressed my “elephant in the room” publicly. It doesn’t bother me to tell all of you, because my goal in all this writing was brutal honesty. So here it is, my truth about a semi-uncomfortable topic. Please know that I am not remotely sad about this choice. I know we made the right choice as a couple on this one, and it was well thought out. We are so lucky to have a fulfilling life and so many amazing relationships and friendships to fill our time with.

On that note, I’ll sign off for now. I hope you all know how much I appreciate you taking the time to read. Keep on keeping on!