Happy (very gloomy and rainy) Thursday! As promised in my last post earlier this week, I said that I would update about my two appointments in Toronto (Wednesday) so I’ll do my best to explain what I have been diagnosed with and where we’re going from here.
The first appointment was with my immunologist at St. Michael’s Hospital, he has diagnosed me with mast cell activation syndrome (MCAS). So what is mast cell activation syndrome? Good question, I didn’t know either but I’m going to use a description from a research article, it says: “Mast cell activation disease comprises disorders characterized by accumulation of genetically altered mast cells and/or abnormal release of these cells’ mediators, affecting functions in potentially every organ system, often without causing abnormalities in routine laboratory or radiologic testing. In most cases of mast cell activation disease, diagnosis is possible by relatively non-invasive investigation. Effective therapy often consists simply of antihistamines and mast cell membrane-stabilising compounds supplemented with medications targeted at specific symptoms and complications. Mast cell activation disease is now appreciated to likely be considerably prevalent and thus should be considered routinely in the differential diagnosis of patients with chronic multisystem polymorbidity or patients in whom a definitively diagnosed major illness does not well account for the entirety of the patient’s presentation.” (Molderings, Brettner, Homann, & Afrin, 2011). So basically, it is an immune system disorder where my mast cells don’t work properly and they release certain chemical mediators inappropriately which cause a variety of chronic issues and/or allergic reactions (including anaphylaxis). In order to treat my symptoms I was started on ranitidine and cetirizine. Ranitidine (or as you may know it as, Zantac) is often prescribed to reduce acid in the stomach for people suffering with indigestion and reflux and cetirizine (also known as Reactine) is what you would take over the counter to treat seasonal allergies. So how do these help MCAS patients? Well ranitidine is a histamine-2 blocker and cetirizine is in antihistamine so for people with MCAS the two medications will attach to histamine receptors and prevent the histamine that is released from the mast cells from attaching instead. There are long term stabilizing medications but at this point in time the two that I have been started on have reduced my symptoms quite a bit so my immunologist wants to wait as I’m on so many medications and we’re still waiting to see if Humira is going to work. He didn’t want to add another medication or medications and cause that to confuse my other specialists if I was having reactions, etc. I will go back in 6 months for a follow up and then we’ll decide which medications to use, unless I start having issues before that in which case I would follow up sooner.
Then we made the drive up to Sunnybrook where I had my first ever appointment with an amazing specialist who works in the dermatology department, this doctor also specializes in Ehlers-Danlos Syndrome (EDS). So patients that have POTS and MCAS are generally going to have a form of EDS, this is the ‘trifecta’ as they like to call it. First, we met with a medical resident who asked me all kinds of questions in regards to my past medical history, family history, etc., then she herself performed a specific set of tests with me that are used to diagnose EDS, it is based on something called the Beighton Score. There are five different things that people with suspected EDS are asked to do and for each thing you can do you receive points. For adults, a positive Beighton Score is 6/9 or higher, I scored a 6/9 and out of the five things they ask you to do the only one I couldn’t do was bending my knees backwards by 100. The only reason for this is due to the fact that I more than likely have psoriatic arthritis in my knees and that would prevent me from bending my knees further than normal. So based on my history and my Beighton Score I was diagnosed with EDS yesterday, I was sort of expecting it but it is still difficult to hear that it’s all true. The last thing (that I was NOT expecting at all) was a muscle biopsy. This biopsy is sent for testing and provides more information in regards to the collagen in my body, etc. So for that they have you come into a procedure room that has 4 stretchers and curtains, they have you lay on a bed (on your stomach), the doctor and nurse come in and they cleanse the area for the biopsy (it was taken from my lower back area on the right side). Once ready to start, they inject lidocaine with epinephrine into the area (this freezes the site) and then they use a 4mm punch to go through your skin, down to your muscle and they remove a piece for testing. One issue that people with EDS face is a lack of response to localized freezing and also sedation. So they made sure to inject a ton of freezing into me, which worked for the actual biopsy stuff but had already worn off by the time I got to the car. Anyways, today and probably for a week or so it feels like I’ve been kicked in the back. I have 1-2 stitches and they need to stay in for three weeks because people with EDS also heal much slower than someone without EDS. To say that this diagnosis explains so much of my life is an understatement!
Ok, I’ve gotten a bit ahead of myself here, I’m sure you’re all wondering what the heck EDS is. “Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. The Ehlers-Danlos syndromes (EDS) are currently classified into thirteen subtypes. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes when the gene mutation is known—all but hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype. For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered. Please remember that an individual’s experience with an EDS is their own, and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant solely to distinguish an EDS from other connective tissue disorders, and there are many more possible symptoms for each EDS than there are criteria.” (The Ehlers Danlos Society, 2017). So, they believe that I have EDS-hypermobility and I go back in six weeks to follow up, review the results of my biopsy and discuss things I need to know in order to live with EDS. The specialist will also provide me a list of things I need to inform my other doctors about in order to keep me safe and healthy.
So, overall the day was productive but it was unbelievably long and stressful. I have to send a big thank you to my Mom who drove me and came to both appointments with me. I’m sure it’s not easy for her to have to sit through these appointments and find out more issues that I have medically but her and my Dad have been such amazing supports for me and I honestly can’t ever thank them enough. So that’s it for today, I need to go rest and ice my back before I can’t move anymore. 🙂
Wishing You All Health & Happiness,
P.S. I have attached links at the bottom of this post that show all kinds of information on MCAS, EDS and the Beighton Score if you want to learn more.
Molderings GJ, Brettner S, Homann J, Afrin LB. Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. Journal of Hematology & Oncology. 2011/4/10. doi:10.1186/1756-8722-4-10.
The Ehlers Danlos Society. (2017). What are the ehlers danlos syndromes. Retrieved from https://ehlers-danlos.com/