Today is Rare Disease Day. There are over 6,000 diseases and disorders that are considered rare. Meaning in Europe, it affects fewer than 1 in 2,000 people, and in the United States, fewer than 200,000 people are affected. While these diseases and disorders are rare, being affected by one isn’t. In fact 1 in 20 people will live with a rare disease sometime in their life.
I have a few rare disorders, although some are considered “rarely diagnosed” and thought to be more prevalent than the actual diagnosed percentage. One of my rare disorders is Mast Cell Activation Syndrome, a disorder in which my mast cells (apart of the immune system) inappropriately release chemical mediators. This causes allergy-like symptoms such as swelling, itching, redness, hives, and in more severe reactions, anaphylaxis. Mast cells are almost everywhere, but there is a higher concentration in the gut, which is where I am most affected causing severe pain, bloating, and cramping shortly after eating. It also can affect your lungs, which is a reason we think I have had asthma symptoms all my life, but was never improved by typical corticosteroid inhalers. I take antihistamines daily and take Cromolyn before meals to help decrease my GI symptoms. Sometimes, I have to take additional antihistamines because my mast cells decided to be extra active that day. My reactions can even wake me up at night because my sinuses are so swollen I can’t breathe. This is a fairly tricky disorder because triggers can vary. New triggers can pop up randomly and the intensity of a reaction can change at a moments notice, so I have to be vigilante when I introduce new foods, soaps and washes, and scents. Thankfully, as of now I have not been experiencing any anaphylactic or severe reactions like I used to have when I was younger.
Another rare disorder I have is Ehlers-Danlos Syndrome, a collagen disorder. I have the more common, Hypermobile type, but it is thought that EDS is actual just under-diagnosed and not in fact rare. Collagen is a protein found in connective tissue, and it is literally everywhere. Joints, muscles, ligaments, organs, eyes, and even ears. So considering its all throughout your body, lacking collagen or making faulty collagen can have serious and sometimes devastating effects. Frequent dislocations, subluxations (partial dislocations), joint pain, joint swelling and stiffness, GI dismotility, poor eyesight, and hearing deficiencies are only some of the problems people with EDS have. And there are 13 sub-categories of Ehlers-Danlos, each with specific symptoms relating to the sub-category. Vascular Ehlers-Danlos is considered the most severe form of EDS. This is because the symptoms include veins and arteries that are prone to collapse and organs that are prone to rupture. Vascular EDS can even be fatal. Thankfully I only have the Hypermobile type, but it still affects my veins in that they are small, roll easily, and blow frequently with IV’s. That is why I have a central line, that way I can avoid being poked 6 times only to get an IV that blows an hour later. EDS is the disorder that causes me some of the most pain. It can leave me bedridden at times and is one of the reasons I am in the process of getting a custom wheelchair. Some of my joints, such as my Temporomandibular joints, are already deteriorating. Ehlers-Danlos is a degenerative disorder, meaning it causes progressive, often irreversible damage to parts of the body. As of now bracing and physical therapy to strengthen the muscles surrounding joints are the only way to treat EDS. Occasionally, invasive procedures like spinal fusions and joint replacements are needed to keep the damage from becoming worse.
Lastly, I have a form of Postural Orthostatic Tachycardia Syndrome called Hyperadrenergic POTS. While POTS itself not considered rare (just underdiagnosed), it is thought Hyper POTS patients make up only 10% of total POTS patients. Hyperadrenergic POTS is where you have abnormal sympathetic nervous system activation alongside the normal high heart rate, dizziness, and fluctuating blood pressure of regular POTS. Basically, the flight or flight response is activated almost all the time and adrenaline is being released into the body in inappropriate amounts. This results in tremors, anxiety, higher heart rates and higher blood pressures (for POTS patients, which BP is typically low). Hyper POTS and Mast Cell often feed off of each other and can cause flares in the other disorder. Their symptoms, especially their GI symptoms can overlap which can lead to one going undiagnosed until the other is more under control. Unfortunately, walking around with adrenaline constantly flooding your brain isn’t as fun or awesome as it may seem. I shake and have weakness, I have anxiety and PTSD, I have a slurry of sleep problems including sleep paralysis, insomnia, and nightmares/terrors, and my heart rate hang out at about 90-100 resting. My body is constantly in hyperdrive and honestly it sucks. Hyperadrenergic POTS is probably my most mentally draining disorder apart from my chronic pain.
As I stated in the beginig of this post; these diseases may be rare, but the number of people affected by a rare disease isn’t. Awareness and advocation is key. Its critical in many of these Zebras’ survival. Because being left undiagnosed because of lack of awareness can cause long term, and sometimes life threatening problems. And while many of these diseases have no cure, some do not even have FDA apporved treatments. Imagine searching for years; being told “it’s all in your head”, “your faking”, “try yoga”, then finally getting answers only to be told “We don’t have a cure, in fact these treatments probably won’t even work since they are not designed for the thing you have.” It took me 4 years to get answers. And as of now, all I’m doing is juggling a swath of problems with ‘symptom managment’. I take Pill A to level out one thing, Pill B to ensure Pill A doesn’t swing me too far in the opposite direction of said thing, Pill C to manage side effects from Pill A and B. And Pill D to manageside effects from Pill C and manage symtpoms G,F, and E. And if I forget to take even one, its an avalanche of problems because the delicate balance I can survive in is thrown off. One day I want to be able to say I had POTS, I had EDS, I had MCAS. And if not me, the future generations of people with these rare disorders. The reason I am so vocal about my struggles and my journey isn’t because I want your pity or because I am complaining (though a vent ever now and then is cathartic). I tell my story in hopes it furthers awareness, alerts people to a diagnosis they’ve been searching for, and sparks discussion and investigation regarding the causes and treatments of these disorders.
In honor of Rare Disease Day, I am sharing my stripes. So one day we can say, “I had”.