I have been wearing a heart monitor for about 46.5 hours… I have to make it to 48. I haven’t been able to shower since I have had it on, and for some reason these last few hours have been torture. I decided it might be time to share an update with all of you. Quite frankly, I need to kill some time and try to stay sane until I can enjoy a hot shower.
I made a social media post a couple days ago about doctor’s appointments and tests and rare disease. Many of you know that I have been dealing with a rare disease called Fabry’s Disease. I was diagnosed officially in 2013, but I was born with it. My grandmother, great aunt, cousin, uncle, mom, and brother also were diagnosed with this disease. I know I have written about it in my blog before and posted several times on Instagram and Facebook. I try to be an open book about it for a couple of reasons. For me, it is easier to deal with things if I am not hiding them. Some of how I cope is by being honest with others and with myself. This is real and it’s a forever thing. I can barely keep a secret for a week, so there’s no point in trying here. I also feel like the best way to be there for others is to share my story and, in turn, hope that they are more comfortable sharing theirs. I know that not everyone is comfortable being public about these types of things, and that is okay. We all cope differently.
I am going to give a brief overview on the disease itself, and then I will share some of my thoughts and things I am dealing with right now.
Fabry’s Disease is a rare, progressive, X chromosome linked genetic disorder. It is classified as a lysosomal storage disorder. Since it is X chromosome linked, it can only be passed down when a parent passes an X chromosome. To keep it simple, females are born with an X from both parents, and males only get an X chromosome from their mother. My brother and I both had a 50% chance of inheriting this from our mom, and we both did. Men can only pass it on to daughters. I won’t dig any deeper into that because genetics are hard to explain. The genetic mutation causes people with the disease to produce less or zero of an important enzyme. Enzymes break down all kinds of wastes in our bodies so that they can be excreted. In the case of my lacking enzyme, there are certain lipids (fats) that my body doesn’t readily break down. They build up in places like the kidneys, the heart, and the brain. There isn’t anything I can do from a dietary standpoint to fix this. The result is that Fabry’s patients are at increased risk for stroke, severe kidney disease, and heart disease. There are lots of other symptoms such as neurologic pain, inability to sweat, and weird spots that can be seen on the corneas, among other things. So, there’s the overview. If you have more specific questions, I’d love to explain more… but it gets deep fast.
Now, onto an update surrounding me and some of what has been going on. There has been a treatment available for Fabry’s for some time now. It comes in the form of an I.V. infusion every other week that is time consuming, especially to start. I had opted out of doing infusions for a number of reasons. First and foremost, my doctors had said they were okay with me waiting because I am not showing signs of damage yet. The infusions did present an intrusion on my life that I wasn’t quite ready for. I know it sounds selfish, but it was my reality. I had also been following a new treatment option in the form of a pill that was being studied and had hoped it would get approval prior to any signs of damage to my organs. Long story short, the pill is now approved and I should be able to treat my disease with it (only 30-50% of patients have a genetic defect that is amenable to this treatment option). It is not a cheap option, but none of the treatments for this disease are anything other than extraordinarily expensive.
I must see a nephrologist, neurologist, and cardiologist twice a year in Billings, MT. For those of you unfamiliar with Montana, that’s over 200 miles from home for me. I must have tests… a lot of tests… to check on my heart, lungs, brain, kidneys, eyes, and ears. The result is a very long couple of days. I did that this week. Combined with wrapping my head around getting treatment, figuring out the assistance necessary to afford treatment, and the drive time, all those tests exhaust me. I usually need a day or two just to process and this time was even worse. The heart monitor and the lack of showering that came with it are part of the tests. 🙂
On top of all that, the cardiologist noticed a slightly abnormal heart rhythm on my EKG. It is completely unrelated to the genetic stuff, but I also have a cardiac disorder called Wolff-Parkinson-White that has also likely been there since birth. In simple terms, we all have an internal electrical system that keeps our heart beating. There is a bundle called the AV node that oversees that electrical system. It is basically the heart’s natural pacemaker. Well, I have a second node. Basically, my heart’s electrical system has a short. For now, I don’t have to do anything for it as my heart rhythm is regular almost all the time. In the future, I may need to have a procedure done to correct it.
Many of you also know that my Uncle Duane passed away in early March. I think that is maybe my biggest driver in treating my Fabry’s Disease. I loved him dearly, and I miss him very much. 5 years ago, he had a massive stroke. Unfortunately, he had declined Fabry’s testing up till that point but tested positive after the stroke occurred. He was 51 when he had the stroke and he was 56 when he passed away. His 57th birthday would’ve been at the end of this month. He passed away as the result of a fall and a brain bleed. However, all that goes back to the major stroke as well as several others he had as a result of the Fabry’s. Here’s the truth… I was asked to write his obituary and it occurred to me that my brother and I have a real chance at starting treatment before the symptoms ever rear their ugly head. Unfortunately, there are others in my family living with heart and kidney disease as a result of all this. My heart is still recovering from the loss of my uncle, but it gave me the gift of seeing my longevity and mortality as something of importance.
I have a real shot at living a very normal life with treatment. There are places on this planet that I want the opportunity to visit. There are mountains I haven’t climbed. There are laughs with friends and family that I haven’t had yet. There are hugs and kisses and moments with my husband that I haven’t had yet. Every single day that we get to enjoy the beauty of this world and share time with those we love is a gift. We get one chance to cherish the gift of life and I am going to try to make that last if I can.
On another note, I have nearly made it to the end of 48 hours and will soon be able to shower and go spend an evening having backyard drinks and enjoying some of the laughs I haven’t experienced yet with my dearest friends. Please do not hesitate to reach out to me privately if you want to know more about any of this. I am an open book and I’d love to talk to you.
Life Of Kristin: An Experiment in Creativity 