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.