Wednesay is Rare Disease Day 2018! This is a day dedicated to people who live with rare diseases, awareness of rare diseases, fundraising for research, treatments and cures, and a day for those of us with rare diseases to share our stories.
Living with a rare disease can be incredibly isolating and at times, frustrating, scary and challenging. You get used to knowing more (or anything) about your disease even when talking to medical professionals. You get anxious trying new things or going new places in case something happens and the medical staff don’t know your condition. Every year during rare disease day I strive to spread awareness not only for rare diseases (most of which have no cure), but also for orphan drugs and the researchers and companies supplying them. Orphan drugs are drugs that are designed for a problem or disease that is rare. They often struggle to find funding and complete clinical trials and most do not get through the trial phase. Additionally, if these medications or therapies do make it past clinical trials, they are often ridiculously expensive (think >$10,000).
Today, and every day, I challenge you all to inclusion, acceptance, and understanding. I challenge you to make a new friend, communicate in a new way, expand your knowledge and experience and above all, be kind. Ask questions, do research, and do not ignore differences. Lets start 2018 with more open dialogue because everyone deserves to feel loved and accepted.
Here’s what some other people say about inclusion and acceptance:
“Coming together is a beginning: keeping together is progress; working together is success.” -Henry Ford
“Love isn’t a state of perfect caring. It is an active noun like struggle. To love someone is to strive to accept that person exactly the way he or she is, right here and now.” -Mr. Rogers
“You are imperfect, you are wired for struggle, but you are worthy of love and belonging.” -Brene Brown
“The world is no real home without all of us here.” -Brian Andreas
Once you’ve racked up enough diagnoses and spent enough time in hospitals the lingo starts piling up and it can get confusing but I held on. Until I got to mast cell disorders and mmmaaannn it is alphabet soup up in here. MCAD, SM, ASM, IgE, HSCs, H, UFH, DAMPs, PAMPS, ATP, TNF, and more! The good thing is you could read one article about this stuff, memorize it and sound REALLY smart rattling it back off at some party. Furthermore, mast cell disorders are not well known, relatively newly discovered, and effect each patient differently. Simple right?
So here is my attempt to spell (badumchh) it out for you guys. If you haven’t already, read my intro posts to mast cells here.
Types of Mast Cell Disorders
Indolent Systemic Mastocytosis
Systemic Mastocytosis with clonal hematologic non-mast cell lineage disease
Systemic Smoldering Mastocytosis
Aggressive Systemic Mastocytosis
Mast Cell Leukemia
Mast Cell Sarcoma
Mast Cell Activation Disorder (MCAD) *note: Mast Cell Activation Disorder and Mast Cell Activation Syndrome (MCAS) are the SAME disorder BUT they are not the same as the term “Mast Cell Disorders” which is an umbrella term for Mastocytosis and MCAD*
Difference between Systemic Mastocytosis (SM) and Mast Cell Activation Disorder (MCAD)
*note again: I don’t know enough about other forms of mastocytosis to formulate anything useful*
When looked at basically, the main difference between SM and MCAD is MCAD patients have the normal amount of mast cells in their bodies, they are just hyperactive and hypersensitive vs SM patients have too many mast cells throughout their bodies and they build up in various organs and cause issues. Symptoms of both can be identical and like most conditions, follow a spectrum from mildly affected to severely affected and can easily be life-threatening. High risks for both include anaphylaxis, severe bleeding from heparin release, seizures, organ damage from mast cell accumulation, even multiple system failure in severe cases.
Common Treatments and Therapies
*note: I do not know of everything, this list is by no means exhaustive*
H1 Antihistamines (stabilize one type of histamine, mainly hives, headaches, nausea): hydroxyzine HCl (Atarax), diphenhydramine (Benadryl), cyproheptadine (Periactin), cetirizine (Zyrtec), levocetirizine (Xyzal), fexofenadine (Allegra), loratadine (Claratin), desloratadine (Clarinex)
H2 Antihistamines (stabilize a different type histamine, mainly GI): famotidine (Pepcid), Nizatidine (Axid), Ranitidine (Zantac)
Leukotrine Inhibitors (respiratory): montelukast (Singulair), zafirlukast (Accolate), zileuton (Zyflo) *if you don’t feel like these are fictional sci-fi names by now… just wait*
Xolair (omalizumab): this is an injection that was originally marketed for asthma but works to desensitize the body. Must be taken at an office every time, can be very expensive and hard to get covered by insurance, can have different reactions at different times. That being said I know people who have had amazing results from it
Epinephrine injection (EpiPen & AuviQ) for anaphylaxis or anaphylactoid reactions
Diphenhydramine injection (Benedryl IV/IM) for those who react poorly to epi or as a first response for reactions or if patient can’t take oral medications
All right folks. Think that’s enough to chew on for now. More later to come later!
***At the suggestion of a friend I will keep two running posts to be updated randomly, this one for fellow bloggers and vloggers with EDS and another one for information, research and studies. Please let me know if any links are broken/nonfunctional or suggestions for additions!***
***At the suggestion of a friend I will keep two running posts to be updated randomly, this one, for educational resources, studies, etc and another of fellow bloggers and vloggers with EDS. Please let me know if any links are broken/nonfunctional!***
The Ehlers-Danlos Society is a great resource for information, guides, and awareness. They also have information to help with diagnostics, emergency information, and education for medical professional.
Joint Hypermobilty Handbook by Brad Tinkle. He also wrote another book but it is very hard to get your hands on but can be found here. This is a very useful handbook covering common issues of EDS by body system. Great to share with healthcare providers or to just understand your body more.
Living with a mast cell disorder is like being a human and trying to live on Mars, you’re living in a world that is dangerous, unknown and clearly not made for you to be there. It is becoming really really good at adapting because your health and well being depend on it. It can be tricky, but it is not impossible.
Mast cells are a type of white blood cell that play a major role in immune function and allergic reactions. Mast cells are formed in your bone marrow and are located throughout your body but with clusters in your marrow, stomach, skin, heart, lungs and brain. These cells are mediator cells meaning that they contain certain hormones and chemicals and the release of such chemicals/mediators can happen when your body senses something is wrong and triggers the mast cells. This is commonly called mast cell activation.
Mast cells carry several different mediators and each mediator has an effect on the body. The most common and well researched are the mediators histamine, tryptase and heparin. Histamine release is the driving force behind allergic reactions and the well known symptoms that come with those (hives, rash, swelling, headache, GI upset). When you take benedryl, you are taking a class of drug called antihistamines which help reduce and calm down released histamine. Important clarification, mast cell reactions are not the same thing as “true/IgE mediated allergies”. Unlike “true allergies” mast cell reactions can be triggered by different things at different times and triggers can be things like heat and emotions.
Mast cell disorders are systemic and complicated disorders that can vary greatly from patient to patient. For me, my mast cells have reacted to everything from coughing to the sun, to peanuts one day and not the next. I have had more anaphylactoid reactions then I can count and have to carry several emergency meds with me at all times. I wear masks in public because cigarette smoke and perfume are some of my worst triggers. Yet despite all these precautions and more, I still maintain a constant reactive state and always run the risk of spontaneous anaphylaxis. Sometimes it isn’t even possible to figure off what started a reaction… it is frustrating to say the least. That being said, it makes you a master at adapting and very very aware of chemicals in foods and products. This is a really big topic to chew off so I plan to do several posts about it if I don’t bore you all silly.