I am the Murphy’s Law of people – if something can go wrong with a body, it is going to go wrong with mine. Whatever unlikely or rare ailment I have at the time will confuse doctors and leave me misdiagnosed. That was until I was FINALLY diagnosed with EDS and the EDS cluster.
Like most people with the EDS cluster, my journey started at birth. I was bendy, clumsy, injured easily, took forever to heal, had stomach problems, fainting spells, random allergic reactions, was chronically fatigued and on and on and on… In my first 30 years of life, I saw so many doctors who were unable to help me or figure out what was wrong with me. I had just accepted that my body was weird, and my health suffered as a result. And just like my body, my diagnosis story happened completely backwards.
The Hives
Fast-forward to thirty-five. I had to get a standard, run-of-the-mill vaccine for my job. While this is a common vaccine received by millions each year, I had never had the vaccine before. I was fine for the first three days, then day four hit, and it was a doozy! I woke up COVERED in itchy, painful hives. They were everywhere – from my scalp to between my toes. Have you ever had the joy of having an ant bite between your toes? Well, it felt like that, but everywhere.
I started with a primary care physician, who had no idea what could have caused my hives. He said that it couldn’t have been the vaccine since it was too long between getting the vaccine and onset of hives. (P.S. he was wrong, very wrong) He gave me some steroids, and sent me on my way. Over the next two weeks, the hives steadily got worse, until I went into full anaphylactic shock. My lips started to swell (I looked like a Kardashian, let’s just say lip fillers would not look good on me!), and my throat started to tighten. I took 3 Benadryls, my husband threw the kids in the car, and we rushed to the ER.
When I got to the ER, they gave me several IV medications and my swelling went down. The ER physician again said that the reaction couldn’t have been from the vaccine and had to be from a food or other cause.
The next morning, I made an appointment with an allergist. He finally agreed, based on peer-reviewed literature, that the reaction was related to the vaccine. My allergist explained there were rare cases of reactions to the vaccine I received. He put me on FOUR antihistamines, gave me an Epi-pen, and tested my tryptase levels. The enzyme tryptase is found in white blood cells, mostly mast cells. High tryptase levels can be indicative of higher levels of mast cell activation.
The Game-Changer
After several high test-levels over the course of a month, my allergist referred me to a hematologist. My hematologist became my saving grace! My hematology appointment started differently from any other doctor’s appointment I have ever had. After the initial pleasantries, he asked me to, “tell me everything that’s wrong with you.” And boy, did I have a lot to tell him! He sat there and listened to me offload every weird thing that my body has ever done. I told him about being bendy, having fainting spells, having horrible GI issues, and on and on.
When I was done with my little diatribe, he pulled up a scientific paper on his computer to show me. The article was, “The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS),” published in the July 2020 issue of Clinical Reviews in Allergy and Immunology. After explaining what all the acronyms meant, he told me he was pretty sure I had all three diseases. I was overwhelmed with the names of the diseases and what they meant for my long-term health. However, I was relieved to know that my whole medical life made sense for the first time ever. After getting over the initial shock, Dr. Rivero started telling me about the next step in my medical journey – officially getting the diagnoses and setting up treatment.
Dr. Rivero referred me to every specialist under the sun to confirm the cluster (EDS, POTS, and MCAS) and to rule-out all types of other issues. I was sent to genetics, gastroenterology, dermatology, physical medicine and rehabilitation, cardiology, endocrinology, rheumatology, psychiatry, and back to allergy. When it was all said and done, I was officially diagnosed with:
- EDS
- POTS
- MCAS
- Mastocytic Enterocolitis
- Osteoporosis
- Hashimoto’s Hypothyroidism (previously diagnosed)
- OCD, Anxiety, and Depression (previously diagnosed)
All the Tests
MCAS Testing
First, Dr. Rivero had to rule out Mastocytosis to diagnosis me with MCAS. According to healthline.com, “MCAS occurs when the mast cells in your body release too much of the mediator substance that causes allergy-like symptoms. Mastocytosis occurs when your body produces too many mast cells and is a type of primary MCAS.” To rule out Mastocytosis, you must have a bone marrow biopsy, which is the absolute WORST. They take a GIGANTIC needle and stick it in your pelvic bone to suck out your bone marrow for testing. Because I have POTS (undiagnosed at this point), my blood pressure was too low to give me any anesthesia. This meant that I had to go through the procedure awake and feeling the whole thing. Did I mention it was worst? Because it was the worst! The testing came back negative for Mastocytosis, so I was diagnosed with MCAS.
GI Testing
After that, I “got” to have an upper endoscopy and colonoscopy. I have had several upper and lower GI’s over the years given my stomach problems. Previous procedures found a hiatal hernia and colon polyps, but they were never tested for mast cells. This time, Dr. Rivero asked my gastroenterologist to perform biopsies and have them tested for mast cells. Needless to say, I was positive for mast cells. Finally, I had an answer to what was causing all my stomach problems my whole life – I had Mastocytic Enterocolitis.
The National Organization for Rare Diseases (NORD) defines Mastocytic Enterocolitis as a, “term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic mastocytosis or cutaneous mastocytosis. The infiltration of mast cells is thought to be a reactive, gut-specific phenomenon from unknown stimuli. It is unclear whether the accumulation of mast cells causes, or is a response to, the inflammation that causes the symptoms. Most people with this condition respond well to treatment, which may involve medications such as cetirizine, ranitidine, cromolyn sodium, or corticosteroids.”
So yeah, I have that too. As NORD said would happen, I took oral cromolyn sodium (the most disgusting thing you will ever taste) for several months. I rarely ever have diarrhea anymore.
POTS Testing
Next up was my POTS diagnosis. To be diagnosed with POTS or other forms for dysautonomia, you “get” to have a tilt table test. The test is exactly like it sounds – they put you on a table and tilt it to see what your body does. Essentially, if you pass out, you are positive. I passed out; and therefore, I was diagnosed with POTS – pretty straightforward.
FINALLY, the EDS Diagnosis
For my EDS diagnosis, I went to a geneticist. It took me MONTHS to get in to see her, but from what I hear, that was actually fast compared to what others have waited (upwards of two+ years!!). This appointment was very interesting, as I learned so much about EDS and connective-tissue disorders. I learned that there are 13 types of EDS, with Hypermobile EDS (hEDS) being the most common. hEDS is the only type of EDS that doesn’t have a defined genetic marker at this time (it exists, but scientists haven’t found it YET). hEDS affects about 90% of all patients with EDS, and it is believed that 1 in 3,100-5,000 people have hEDS.
Prior to the appointment, I had to fill out a VERY LONG questionnaire that detailed all my health history, as well as the health history of all my family members for three generations back. The geneticist went over my history with me, as well as asked me pointed questions about my health and body and asked me to perform a series of body movements.
Since there is no genetic marker for hEDS YET, a clinical diagnosis must be made. You can find the diagnostic criteria for hEDS here on the Ehlers-Danlos Society website. Criterion 1 is the Beighton Scale, which tests for joint hypermobility. Criterion 2 tests for other clinical factors seen in hEDS, and Criterion 3 requires other heritable diseases and EDS types to be ruled out. I met the requirements for both Criterion 1 and 2, so I had to do genetic testing to rule out the other EDS types for an official diagnosis. The testing took a couple weeks for the genetic testing results to come back. They resulted in me being negative for the other types of EDS, finally confirming my diagnosis of EDS!
Let’s add another diagnosis in there just for fun…
After being diagnosed with hEDS, my geneticist ordered a Dexa scan, which is an x-ray of your bones to measure your bone density. Lucky me again, my Dexa results were horrible. I was referred to a different geneticist who specializes in bone diseases.
When I met with this second geneticist, he explained what my results really meant. He said to imagine that there are 1,000 women the exact same age as me in a line. They are ranked from the very best bone density at number 1,000 down to number 1 with the worst bone density, with number 500 being the average. He said I am somewhere between person 1-15. So yeah, I have really bad osteoporosis at 37. Yay me! I am still in the process of working with this doctor to determine the best course of treatment for my osteoporosis, given all the other medications I am on for all my other merry ailments.
So that’s my story. EDS is usually diagnosed first, and then other comorbidities are diagnosed as they arise throughout life. Just like my weird body, my journey was backward – I was diagnosed with all these random diseases, and then was diagnosed with hEDS, which was the overarching explanation I had been looking for all my life.
What was your journey like? I’d love to hear about it in the comments!
One response to “How I was FINALLY Diagnosed with the EDS Cluster”
[…] it is actually how I started my journey to being diagnosed with the cluster (see my diagnosis story here). I get hives just from looking at something funny. Ok, not really, but it does feel like it. The […]