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.
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.
** 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. 🙂