By Molly, Undiagnosed Mast Cell Activation Syndrome, Undiagnosed Ehlers Danlos Syndrome type III, Idiopathic Urticaria, Conversion Disorder, United States, February 29, 2020
My name is Molly, and I'm almost 16 years old. I am from New York State and I am living with multiple chronic and rare illnesses. My journey started when I was about 12 years old. I was constantly in and out of the hospital for facial swelling and idiopathic anaphylaxis. All throughout this experience I have missed large amounts of school. They had no clue what was wrong with me. I had seen many allergists and specialists who tested me for possible allergies that I could have, but the tests all came back perfectly fine. After a few months of this, my doctor's sent me away with more prescriptions for antihistamines and a referral to a therapist because they thought I was faking it.
My question is, how could someone fake an anaphylactic reaction? You cannot willingly make your throat close or cause your heart to stop. It just doesn't work that way. Anyways, eventually after lots of very stressful near death experiences with no answers, I had another life threatening reaction, but this time the epi pens didn't work. I went into cardiac arrest, and had my first pseudoseizure, which we later learned was a new condition I had developed; because of all of the traumatic experiences I was having with my diseases, and lack of a diagnosis, called conversion disorder. I woke up in my local hospital, and was shortly transferred to a hospital about an hour or so away from me.
Once I was at the new hospital, they were concerned with the amount of pain I was in. They did lots of tests, but again found nothing physically wrong with me. Keep in mind, at this point I had been in excruciating pain every day, and still continue to be in this pain today. At one point during this stay at the hospital, my doctors decided to run an MRI because the lack of physical evidence of a problem led them to believe I could possibly have a brain tumor that was causing the seizures and anaphylactic reactions. When nothing showed up on the MRI, I was given a three day EEG to try and figure out what was causing the seizures, AGAIN, nothing showed up. A few days later, when I was a bit stronger, I tried to get out of bed and discovered that I couldn't walk, and soon, my hands became locked and I couldn't move my fingers either. I was sent home with another referral to a therapist, and referrals to physical and occupational therapy as well.
To this day, it appals me how doctors continued to brush off evidence of a physical disease and kept sending me away to therapy, believing that I was just being a hysterical 13 year old girl. After I was sent home, I continued to have seizures and anaphylaxis. They kept pumping me full of steroids and antihistamines. At this point, my doctors had now finally started to look into evidence of an autoimmune disease, and referred me to an endocrinologist and a rheumatologist about two hours away from where I live. At the endocrinology appointment, the doctor looked at my scans and said there was nothing wrong with me. At the rheumatology appointment, the doctor looked and my hands and ankles for about 30 seconds, and then sent me away saying "she doesn't have arthritis". Again, we left another doctors appointment with no answers, and even more questions than we went into it with. Soon after this, my seizures were diagnosed as conversion disorder. I had so much stress because of everything that was happening to me that it was presenting in a physical way.
After this diagnosis, it was even harder to communicate with doctors, as they just saw me as a hysterical girl who was faking everything. After about a year or so of more idiopathic anaphylactic reactions I had lots of recurrent chest pain from the repeated use of epinephrine autoinjections, and this caused me to pass out a lot. My doctors had concluded that I had idiopathic urticaria that caused angioedema, because they still couldn't find any reason for this to be happening to me. This went on for about two more years, up until 2019. I was prescribed more antihistamines to try and get rid of my reactions, when my doctors thought it was possible that I could have a rare chronic illness called Mast Cell Activation Syndrome. MCAS is an immunological condition in which mast cells inappropriately and excessively release chemical mediators resulting in a range of chronic symptoms including facial swelling, hives, tachycardia, and anaphylaxis. The trigger for this is usually excess amounts of histamine produced by the body or other environmental factors.
This condition is debilitating and is very difficult to diagnose, because even with the correct tests, if the timing isn't exactly perfect, the tests could still show up as normal, even if a person does have the disease. With my range of symptoms, it was agreed that I most likely have the disease, even though my allergist did not believe that testing for it would give us a definitive answer. I was put on the correct antihistamines and I now have an allergen free and low histamine diet that has helped me to somewhat avoid allergic reactions, and moniter my histamine levels. At this point in my life, there are very little foods that I can eat without triggering a reaction, and I have to be very cautious and aware of my environment to avoid triggering a flare. Towards the end of 2019, I was sent to another rheumatologist. Here, they looked at my symptoms of chronic pain and severe joint hypermobility and dismotility. My new rheumatologist examined me, and determined that I definitely have joint hypermobility, and that I am also the poster child for type three hypermobile ehlers danlos syndrome.
Based on the updated 2017 criteria for hypermobile ehlers danlos syndrome, I scored an 8/9 on the Beighton scale. This meant that I had definite joint hypermobility, and with the evidence of multiple joint dislocations and subluxations, daily chronic pain, stretchy translucent skin, and previous heart and organ problems, I was evaluated for hEDS on December 20th, 2019. Lack of genetic testing so far is one of the reasons I am not yet formally diagnosed. For reference, ehlers danlos syndrome is a connective tissue disorder characterized by multiple dislocations, joint problems, blood vessel problems, and defective collagen proteins. This was a major relief, because with the possibility of this new disease, everything else could be explained. Mast Cell Activation Syndrome and Ehlers Danlos syndrome are what is called in the medical community, "comorbidities". This means that one already present disease, caused the appearance of another disease. In my experience, I have most likely had ehlers danlos syndrome, or another similar connective tissue disorder, since I was a young child, but it was never diagnosed due to lack of awareness, and a lack of willingness to look for the possibility of a rarity instead of a common condition.
Diseases are commonly given a trademark; like breast cancer is a pink ribbon, and autism is a blue puzzle piece, but ehlers danlos syndrome is a zebra. This is because the disease is extremely rare, and only about 1 in 20,000-40,000 people have the hypermobility type, with even fewer people being diagnosed with the 12 other subtypes of the disease. Doctors and medical students are often told, "when you hear the sound of hooves, think horses, not zebras" demonstrating that a zebra is an uncommon thing and rarity in the medical community. The fact that zebras represent the Ehlers Danlos society exemplifies how truly rare and undiagnosed this condition really is. There could be thousands of people in the world who could be helped if the medical community would bring light to this condition, instead of only diagnosing people with it as a last resort.
In my experience, I have lost weight, become weak, and have not been able to do some of the things that I love without it causing me pain, or causing me to pass out from extreme fatigue and other symptoms related to my conditions. Please help to raise awareness for people all over the world who have Ehlers Danlos Syndrome by sharing my story, and join the fight to find a cure so others like me can be heard.
*Find others on RareConnect, the online platform for people affected by rare diseases