A 33-year-old woman in Latest Zealand succumbed to a rare genetic condition following her persistent battle with the “invisible disease,” which her doctor initially dismissed as feigned illness.
Stephanie Aston died on Sept.1 after affected by Ehlers-Danlos syndrome (EDS) for around eight years.
Aston began experiencing symptoms reminiscent of frequent migraines, easy bruising, joint dislocations, abdominal pain, anemia and dizziness on the age of 25. Nevertheless, her doctor dismissed the symptoms saying it was “all in her head.”
EDS is a set of hereditary conditions that affect the connective tissues, mainly the skin, joints and the partitions of the blood vessels. It’s a rare disorder that affects one in 5,000 people.
The condition is taken into account an “invisible disease” as patients most frequently appear healthy, despite affected by excruciating fatigue and pain.
“I believe most individuals in these rare positions or invisible illnesses, definitely experience setbacks and disbelieving because things cannot be seen but really the clinical symptoms are there which are being ignored,” said Kelly McQuinlan, founding father of the EDS community in Latest Zealand. “Most individuals in our community have experienced some type of type of doctors not believing them or questioning their diagnosis which is incredibly hard.”
Symptoms of EDS
There are 13 forms of EDS, based on the affected area of the body and the symptoms related to it. Listed here are the common symptoms seen in EDS cases:
1. Overly flexible joints – For the reason that connective tissue that holds together the joints becomes loose with the disease, the joints change into overly stretchable, way more than their normal range of motion.
2. Bleeding – In lots of forms of EDS, bleeding from rupturing of the blood vessels is a typical symptom. The condition results in issues like bruising, internal bleeding, rupturing of the uterus while pregnant, holes within the intestinal wall and stroke.
3. Overly stretchy skin – Patients with EDS could have soft, velvety skin that is very stretchy.
4. Wounds that don’t heal fast – Small wounds on the skin may cause unusual scarring and take an extended time to heal.
5. Headaches, dizziness and fatigue – Extreme fatigue, joint pain, overall body ache, headache and dizziness are a few of the common signs of EDS.
6. Digestive issues and lack of bladder control – Symptoms of digestive issues reminiscent of constipation, heartburn and urinary incontinence are also common.
7. Delayed development of motor skills – Children with EDS could have delayed stages of development reminiscent of sitting, standing and walking.
Treatment
Most forms of EDS don’t affect the longevity of the patients. Nevertheless, complications reminiscent of bleeding and stroke can turn fatal.
The treatment strategy is determined by the style of EDS and is especially focused on managing the symptoms and stopping complications of the disease. The treatment involves physiotherapy, occupational therapy, counseling and cognitive behavioral therapy to administer pain. Avoiding certain activities like heavy weight lifting and speak to sports can also be advised for patients.
Published by Medicaldaily.com