Crystal Goodwin, from South Portland, Maine, was diagnosed with mast cell activation syndrome (MCAS) back in 2011. A rare disease diagnosis can turn one’s life upside down, and Crystal is no exception. She had to adjust to symptoms, avoiding allergens, and spending a lot of her time in the emergency room. Then she faced more drastic change: two more rare disease diagnoses. Crystal was told she has postural orthostatic tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (EDS).
In the face of her diagnoses, Crystal remained strong and even worked to help others in her community affected by rare disease. Now, to pay her back for all that she has done, those she has helped are working to get her a service dog.
Mast cell activation syndrome (MCAS) is a rare condition that sees episodes of allergic symptoms caused by defective mast cells. While medical professionals do not know why mast cells are unable to properly function, they do believe that there is a genetic component. They also know that while allergic episodes can be brought on by triggers, some are also idiopathic. Regardless of cause, symptoms include fainting, rapid pulse, low blood pressure, abdominal pain, shortness of breath, nausea, diarrhea, vomiting, itching, hives, swelling, skin turning red, and swelling in the throat. The goal of treatment is to relieve patients of these symptoms, and the first step is to administer epinephrine. Antihistamines, montelukast, corticosteroids, omalizumab, aspirin, zafirlukast, and histamine type 2 are also used in treatment.
Postural orthostatic tachycardia syndrome (POTS) is a form of dysautonomia. It causes symptoms like a rapid increase in heart rate, orthostatic intolerance, blurred vision, dizziness, headache, fatigue, gastrointestinal symptoms, and anxiety, among others. Like MCAS, doctors are unsure what the exact cause is; however, episodes are often triggered by pregnancy, trauma, major surgery, or a viral illness. There are a number of medications that doctors use to treat POTS, all of which intend to relieve low blood volume and regulate circulatory problems. Examples include midodrine, clonidine, and benzodiazepines.
Ehlers-Danlos syndrome (EDS) is a group of rare, inherited disorders that impacts connective tissue, most commonly within the skin and joints. Affected individuals have very fragile and elastic skin, widening scars, and skin that bruises easily and heals poorly. Joints are loose, flexible, and unstable and are also prone to sprains. Muscles and tendons tear easily, and there may be deformities in the spine, fingers, and neck. Other symptoms may include cardiovascular symptoms, stroke, malfunctions of the digestive tract, pregnancy complications, and dysfunction of the brain and respiratory system. Proteins and collagen are defective in affected individuals due to an inherited mutation. There is no cure, and treatment is symptomatic.
Crystal was diagnosed with the first of her three rare diseases in 2011, when doctors told her that she has MCAS. She had episodes frequently, causing her to wind up in the emergency room every few weeks and eventually leaving her housebound in an effort to avoid allergens. Doctors also prescribed numerous medications.
She lived in this way for a few years, until random episodes of fainting became a new symptom. It was then that she received her POTS diagnosis. Soon after, doctors told her that she also had EDS, completing the rare disease trifecta. While doctors are not completely sure of the connection between these conditions, research has suggested that they are “a new disease cluster.”
While these diagnoses and the resulting life changes are a lot to handle, Crystal prefers to focus on the positive. She has a beautiful baby girl, Gisele, with her husband Stanley. Her allergic symptoms even went into remission during her pregnancy, and doctors say that it could last for upwards of a year.
Beyond focusing on the positive, Crystal also helps those around her. She guided Martina Baker in her MCAS diagnosis after she woke up one day covered in hives. Martina’s mother said that without Crystal, they would have never made it to Boston to receive an official diagnosis. They also value the support that she consistently provides.
Giving Back to Crystal
To thank her for all that she has done for them, Martina’s family is helping to get Crystal a service dog. Martina already has one, Keeva, who alerts her when her histamine levels rise. This allows Martina to take emergency medicine and reduce the severity of an anaphylactic attack.
When Crystal gets her dog, it will be trained to alert her to fainting spells, detect allergens, and sense when her heart rate is high or blood pressure changes. First, the dog has to be trained in Florida, which costs $20,000.
Crystal is excited to have a service dog, as she believes that it will bring stability into her life. She has a lot of hope and gratitude for all of the positives in her life, and it is these positives that push her forward.
Read more about Crystal’s story here.