For Patricia Murray of Easton, every day is a struggle. Diagnosed with Mastocytosis and Ehlers Danlos Syndrome (EDS) in 2005, life has been a series of painful tests, surgeries and an overall degenerating quality of life that would bring most people to their breaking point.
Nevertheless, Patricia remains positive, not only fighting for her life but launching a world-wide effort to raise awareness for Mastocytosi, EDS, Postural Orthostatic Tachycardia Syndrome (POTS), and Chronic Fatigue Syndrome to generate much-needed research dollars to combat these conditions.
Mastocytosis is a group of rare disorders caused by an overabundance of mast cells in the body. Part of the immune defense system, mast cells help defend from disease by releasing histamine. Patricia’s hives and allergy symptoms were the first signs leading to her diagnosis. A skin biopsy confirmed the cutaneous form of the disease. While two bone biopsies were inconclusive, she was also diagnosed with the systemic form affecting internal organs and bone marrow.
With elevated histamines, Patricia is at risk for allergic reactions including life-threatening Anaphylaxis whenever she contacts any triggers. With latex on that list, hospitals must be prepared if she requires medical attention.
EDS is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. As Patricia explains, collagen is the glue holding things together. She is always at risk of dislocating her joints and never knows when or where in her body it might happen. As a result, Patricia has been unable to walk for four years.
POTS, an increase in heart rate of 30 bpm to to 120 bpm, caused by her EDS also plagues Patricia and is severely debilitating. She is on a special diet to avoid gastric complications caused by these conditions and constantly requires I.V. hydration. Some days, even swallowing is a challenge.
Little is known about these diseases, but Patricia says with funding, research may establish the link between ELS MCD, POTS and other autonomic nervous system disorders. According to Patricia, more than 200,000 people suffer from ELS alone. “If we could just get one of these symptoms alleviated it would be worth it,” she says.
Although depression often accompanies chronic illness, Patricia remains hopeful. A genetic disease, EDS and POTS also affect her 23-year-old son, Dustin Wood, who has undergone radical surgeries and suffers seizures and chronic fatigue. “I have to set an example,” she says. “If he saw me crying and being depressed he would too.”
While Patricia’s pain is constant she says, “It can always be worse and you have to be thankful for what you do have.” Patricia says she believes God helps those who help themselves.
Her disabilities prohibit her from working but she still devotes energy to generating awareness via a MySpace page and promotes the Tour America Concerts To Raise Awareness For Mastocytosis & Ehlers Danlos Syndrome. Dustin, an aspiring standup comedian, also uses his talents to raise awareness for the diseases.
Patricia credits Doctors Fraser Henderson of Metropolitan Neurosurgery Group in Bethesda, Clair A. Francomano, Director of the Harvey Institute for Human Genetics and pulmonologists Alan Chanales with any health progress she has made. “I’m so thankful for what they are doing to try to help me,” she says. “They know they have a long road as I have lots of medical issues but they are still trying to treat me.”
For more information about these conditions, visit Patricia at www.myspace.com/patriciamastoandeds.