Community Spotlight: Megan's Experiences with POTS, Ehlers-Danlos, and MCAS (Part 1)
Searching for the Correct Diagnoses
From a young age, Megan displayed symptoms that told her parents something was not right. She couldn’t tolerate the heat, frequently turning bright red/purple and overheating. The first diagnosis she received was Anhidrosis, the inability to sweat. However, this didn’t feel like the correct diagnosis for her symptoms, and her parents kept managing her health the best they could.
As she got older and went to school, new symptoms began to develop; migraines, sensory issues and syncope. Her mom knew she had to push the doctors to take these symptoms seriously, and at age 7, she underwent a tilt test which was used to diagnose her with Dysautonomia. At the time, the only doctor who specialized in Dysautonomia was hours away, so every month, Megan and her mom traveled to see him. This specialist confirmed Megan’s diagnosis of Dysautonomia, and also diagnosed her with POTS. Even with these two major diagnoses, Megan and her family kept searching for answers that would explain all of her symptoms. At age 11, she was diagnosed with Ehlers-Danlos Syndrome, and at 14 she was diagnosed with Mast Cell Activation Syndrome.
What is POTS?
Postural orthostatic tachycardia syndrome (POTS) is a condition of the autonomic nervous system in which Orthostatic Intolerance (OI) is a primary symptom. (1). Orthostatic intolerance is when individuals develop symptoms while moving from laying to standing. In the case of POTS, individuals experience a rise in heart rate of at least 30 bpm from supine (laying on the back) to standing, or a heart rate that exceeds 120 beats per minute within 10 minutes of standing. These symptoms can be relieved by lying down again.
POTS can run in families, but researchers have yet to associate POTS with a genetic component that can be attributed to generational diagnoses. (2)
What is Ehlers-Danlos Syndrome (EDS)?
Ehlers-Danlos Syndrome, or EDS, is a group of hereditary connective tissue disorders that manifests as skin hyperelasticity, hypermobility of joints, atrophic scarring, and the fragility of blood vessels. There are 13 different variants of EDS, and 6 types that cause a range of symptoms. (3) The most common symptoms are over flexible joints, and stretchy or fragile skin. Individuals with EDS may find that their skin does not heal well, and wounds can tear, causing a greater injury.
EDS is associated with genetic components that can be inherited and passed on from parent to child. If you have the most common form of EDS, Hypermobile Ehlers-Danlos Syndrome, there is a 50% chance that it is passed from parent to child. (4)
What is Mast Cell Activation Syndrome (MCAS)?
MCAS is a condition that causes an individual to have repeated severe allergy symptoms affecting multiple parts of the body. This can lead to symptoms in the skin, gastrointestinal tract, heart, respiratory, and neurologic systems. Symptoms can include episodes of abdominal pain, cramping, diarrhea, flushing, itching, wheezing, couching, lightheadedness and rapid pulse and low blood pressure. (5)