What Requires Maintenance?

I started this blog about 2.5 years ago after joking with my mom when the maintenance required light came on in my car. I want to use this as a way to encourage others going down the same road I am, as well as to be a resource for others starting this journey. For many people managing chronic conditions, especially rare diseases, the internet can be a major resource. In my case, we used the internet to ultimately find the doctor who diagnosed me and has been a huge part of managing my symptoms. Hopefully, this blog can be a resource for others on this same journey!

Here is what "requires maintenance" for me:

I was diagnosed with mast cell disease in January 2015 after about 8 years of progressing symptoms. Almost 3 years later I was diagnosed with secondary carnitine deficiency. The jury (aka whole exome sequencing) is still out on any possible genetic conditions, although mitochondrial disease is high on the list of suspects. As of Rare Disease Day 2018, both mast cell disease and secondary carnitine deficiency are classified as rare diseases. I'm by no means an expert on either condition, but I have learned (and am continuing to learn) what it means to live with these diagnoses. I hope to share some of that here.

Mast cell disease

Mast cells are produced in the bone marrow and located throughout the body. We need mast cells to survive as they are a part of our immune system; however, in my case, mine are hypersensitive and do not have an "off switch." This presents as my body having allergy-type reactions ranging from mild (flushing, hives, itching) to severe (full-blown anaphylaxis) that are caused by the mast cells degranulating (releasing their contents) in response to a trigger. Because mast cells are located in every organ, along the nerve pathways, and pretty much everywhere in our bodies, symptoms are systemic (i.e. impacting multiple organ systems) and present differently from patient to patient.

Mast cell disease is not considered terminal and does not necessarily shorten my life span. The main risk with mast cell disease is anaphylaxis. Mast cell can be triggered by anything I mentioned above (food, scents, heat/cold, etc.), unknown triggers, or even things that happen in my body (i.e. low blood sugar can cause mast cell degranulation which can then, in turn, lower blood sugar...see the challenge?). The unpredictability is the hardest part of managing this condition. About half my reactions are to unknown triggers, so I always have to be prepared with emergency medications, epi pens, and just knowing that sometimes, there is nothing I can do.

Secondary Carnitine Deficiency

This is a newer diagnosis for me, so I'm still learning myself. Carnitine is necessary for fat metabolism within the mitochondria. Not having enough carnitine means my body is not able to utilize fat as an energy source efficiently. That means that once glucose is used up, my body has to being breaking down muscle to use the protein for energy since fat is not an option. This can also cause systemic symptoms as ATP is required for pretty much any function in the body. We suspect that my muscle weakness, balance issues, and coordination deficits may be related to this diagnosis. It may also have resulted in increased mast cell degranulation as muscle breakdown is not a friendly process, and my mast cells are quite testy.

We don't yet know what is causing this deficiency. Low carnitine levels are very common in many forms of mitochondrial disease, so are hoping the whole exome sequencing will be able to shine some light on this for us. It can also be a stand alone diagnosis due to an inability to absorb carnitine from diet (formula or oral intake) or due to an inability of my body to produce endogenous carnitine. Either way, treatment is the same and involves supplementing carnitine, avoiding fasting, and reducing fat intake. In the coming months we hope to have a better understanding of what this means and whether this is only a piece of a larger diagnosis or stands alone.

So that's what's up! I have other diagnoses that are likely caused by one of these conditions (things like POTS, hypoglycemia, Raynaud's phenomenon, asthma, etc), but to me, they are not really diagnoses in and of themselves but just symptoms of these larger systemic conditions. Like I said, I'm still learning what life with mast cell disease and secondary carnitine deficiency looks like, so don't take anything on this blog as set in stone. I'm just sharing my experiences and connecting with others walking similar paths.

2 comments:

  1. I love the title of your blog! And as I read through I definitely relate although I do not yet have an "official" diagnosis. The only doc that somewhat gets it so far is my allergist PA. I found your blog because I was researching service dogs for MCAS. I jam in the midst of a terrible reaction, and was thinking how nice it would have been to have a warning and maybe it would t be so bad. My husband travels a lot for work and while I have kids and other animals, having a dog that has a job to take care of just me, I think would help greatly.

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    1. Thank you for the comment! I'm not glad you're dealing with this stuff, too, but I'm glad this blog could be of some help. Leni has been a great addition to help manage my mast cell disease. I am so very grateful to have her! If you think a service dog could help, it is definitely something to research and look into. Feel free to find me on instagram (@kboka27) because I post a bunch about Leni and what she does for me. And I'd be happy to answer any questions if you have specific things you are wondering.

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