Glycogen Storage Disease Awareness Week

Hello beautiful people!

I want to start out by saying that I am not one to really get into awareness days, weeks, or months. Not because I think diseases or illnesses do not need awareness, but because really – it’s not my thing. Despite having this blog and my IG account to connect with others sharing similar struggles, I am actually a pretty private person, and I am careful about who I share my struggles with and who I let in to see the whole picture. This being said, for those who lay it all on the line, more power to you! I think it’s brave and awesome and I wish I could do the same, but this is me. I also do not find a need to talk about the specifics of my diagnoses and exactly what I have been diagnosed with, because I am really trying to adopt the notion that I am not just a diagnosis – and neither are you. I do not want to get caught up in listing all the things wrong with me, and feeling like I need to connect with others on the sole purpose of sharing a diagnosis. We are all in this together. All chronic illness sufferers across all walks of life and various diagnoses, we can come together to share our experiences, offer suggestions, bounce ideas around, and support one another.

This all being said,

I am going to go out of my comfort zone on this one and write a little bit about my experience with the disease that greatly affects me on a daily basis: Glycogen Storage Disease.

Why?

Because it is Glycogen Storage Disease Awareness week, a group of diseases that are not very well known. I have been diagnosed with two types, and for one of my types in particular, there is very little information and research out there on it. There are about nine cases total in the literature on one of my types, YET, about nine individuals diagnosed by my doctor in my local area. Crazy, huh?

Anyway – I will make one awareness post for this and one only. Not only am I writing this blurb because it is rare and it really impacts my life, but I hope that it can help spread the word, and get people thinking. Maybe, just maybe, it can result in a diagnosis that someone has been searching for years on end. You never know.

I am not going to go into the two types I have and their specifics, but I am going to talk a little bit about my experience and my doctor.

Let me start out by saying that getting my diagnoses for this was not easy. Let me also tell you that it did not get easier after the fact. I faced plenty of people who did not believe me, despite results, including other doctors and patients. Some say it’s just too rare to have two types of GSD. Some say you cannot get diagnosed through a muscle biopsy, only genetics. Some say for certain types you need a muscle biopsy AND genetic testing, and if both are not positive, you cannot possibly have it. I have heard it all. And from people who are supposed to be supportive like other patients! Here’s the thing: metabolic muscle diseases are rare, but they are not as rare as we think. My doctor would say to all of these naysayers: medicine is constantly evolving, and there is still a lot we do not know.

I trust my rheumatologist/immunologist who diagnosed me. Why would I trust the doctors who have not invested their time and energy into getting me well? Why would I trust the doctors who do not go the extra mile, and consider the “rare” or “impossible” when my symptoms line up? Why would I trust the doctors who, to put it simply, do not believe me? I have OCD. I already think I am crazy and one of my obsessions is that I think I am making this whole thing up 99.9% of the time. I don’t need doctors feeding that. But that’s a little besides the point…

The POINT here is this: there is a lot we do not know in medicine just yet, and a lot that we are still learning. I do know my symptoms, I do know the results from my tests, and I do have doctors that can put two and two together, despite there being some gaps and little holes of uncertainty if you will. This is because the disease is rare. The rarer it is, usually the less is really known or understood. Thirty years down the road, I do have to wonder if things will be different regarding metabolic muscle diseases, and I predict they will be.

I believe that there are many more out there suffering from GSD maybe without knowing, and who are searching for the right diagnosis.

So, in many ways I am lucky.

My advice to anyone in the frustrating process of being undiagnosed…DO NOT GIVE UP. Your symptoms are real. Your experience is valid. And you are deserving of appropriate care from doctors who will fight for you. They are out there.

GSD Awareness .jpeg

** Follow me on IG, and if you would like to know more about GSD or have questions on the specifics of the disease, DM me! I don’t know about all of the types, just mine, but I am wanting and willing to help others along the way. 🙂

 

 

 

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Trial And Error

Trial and Error. Two words that seem to sum up my experience in the last month pretty darn well.

I could go into a long spiel as to why it has (yet again) been so long since I have written on this blog, but I will spare you the extra details. This being said, trial and error is a large part of why this blog has taken the back seat. That, and just a lack of creative juices flowing through this overstimulated brain of mine.

Trial and error, I have learned, is an inevitable and sometimes crucial part of living with chronic physical and mental illness. Having a chronic illness is kind of like living in a shoe store. You are constantly trying different sizes to get the right fit. In order to find the best doctors with the best treatments, we must shop around. We must go to different appointments, see various doctors, get a host of tests or assessments done, and try divergent treatments. Usually, after some time is spent in this shopping spree phase, we can settle with the right doctor who orders the right tests and prescribes the right treatments.

Looking at my own personal story, it has been almost four years since I became sick. Just when I thought I was at the end of my road, something else always popped up. I have been to more doctors than I can count and taken way more medications than I can remember…and I’m still going on this journey! Hopefully it is winding down as there does not seem to be many more tests that I can forego, but now I am digressing.

Okay, I’m back – trial and error.

We need this process of trial and error. It is the only way that we will actually learn what we want and have the means to GET somewhere. Take doctors for instance. I have skipped, hopped, and jumped from doctor to doctor in search of a good fit, one who will take me seriously, and one who will not be afraid of a challenge. I finally found a wonderful primary who cares and who will fight for me. I was able to see a doctor who is very difficult to schedule appointments with, who ended up diagnosing me with something that no other doctor could.

Just last week, I went in for an MRI. The doctor who set up my MRI was a new doctor that I hadn’t been to before. I went there to get a second opinion and rule some other illnesses/problems out. I was not fond of the doctor who I saw; he basically told me that my illnesses were too rare and I probably wasn’t suffering from any of it. Instead, I was probably just deconditioned. No doubt I am deconditioned, but who will I stick with…the doctor who doesn’t believe me, or my doctor who does and will fight to figure out these last pieces of the puzzle? Who will help me along and get me the best treatment? Because let me tell you, there is more to the picture than deconditioning.

So I’m sorry, but in my eyes, it’s a no brainer.

I have experience with failed treatments. For example, I went in for my first iron infusion for low ferritin levels to gain more energy (at least that was the hope). What happened? I had a reaction. I felt worse leaving than I did going. I repeatedly cursed in my head (okay, and out loud) on that drive home, while praying I would make it home okay – which are two pretty contradicting actions. You would be surprised at how you react when your feeling that poorly. I ended up going to the Emergency Room two days in a row. Not fun.

BUT – now I know, thanks to trial and error.

Home sleep study? My breathing was normal. We did what the insurance company wanted, now we need to push for an in lab sleep study to actually be able to look at my brain waves.

Not only is this whole process trial and error, but it is almost like a game. I could go on and on with examples of trial and error with both my physical and mental health, but I won’t put you through that. I think you get my point. But if it did somehow get lost in all the ramblings, my overarching idea here is that trial and error is a part of life, and especially so in life with chronic illness. It can be a royal pain to deal with sometimes, but it is most likely the only way to get to where we want to end up.

So we keep going.

The Real Answer to the Question “Are You Feeling Better?” When Living With Chronic Illness

“Are you feeling better?”

A question that makes me cringe. It’s an awkward and uncomfortable question that, unfortunately, is asked frequently by friends and family members of those who are chronically ill.

I personally do not get upset with the people who ask me this. After all, if one does not experience chronic illness first hand, can we really expect them to understand? However, I was asked this question by classmates of mine for the first time, and I have to say, it was one of the most uncomfortable encounters I have had with my classmates to date.

And I thought and thought about this.

Why is that question so darn awkward to answer? Why does it make me stutter over my words, not knowing what to say, almost as if I were a deer in headlights?

Because I don’t want to tell them the truth. And the truth is, no I am not feeling any better. Sure, I may not be feeling as bad as I was that day I missed class, but I am never 100%. My battery is never fully charged. But that’s just how I live. In fact, I don’t even know if I really remember what normal feels like. This is my new normal. I live with this fatigue every single day. Little things make me tired. Doing nothing makes me even more tired. Sleeping does not cure the fatigue. In fact, it makes it that much harder to get out of bed. My heart rate jumps when I stand, I get dizzy, my legs feel like spaghetti noodles. I have learned to live with it, and I continue to learn how to best manage each day. And you wouldn’t guess that I struggle like this, because I show up with (most of the time) a smile on my face. I talk and engage in conversation. I laugh. I participate. But the effort it takes to just do these things is more than you know. I push myself.

Of course, this is too much to say in brief conversation. Does anyone really want to hear the truth anyway? Even if they did, the effort it takes to verbalize all of this is too great. So, I am writing it down. I am much more cohesive with my thoughts when I write than when I speak. Words seem to escape me when I try to talk, yet another symptom of my chronic illnesses.

So, to truthfully answer everyone’s questions that come my way about if I’m feeling any better, the answer will be no. The likelihood that I will actually say this is slim to none. You can expect a big old “yes” to come out of my mouth, but in case your wondering, that’s not accurate. It’s just easier because it uses less energy, and diffuses the awkwardness from the situation. I appreciate the thoughts and intentions behind this question, as I believe they are usually good ones. I just have not figured out how to live like a healthy person in a sick body, and I don’t know if I ever will.