A 33-year-old woman in New 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 suffering from Ehlers-Danlos syndrome (EDS) for around eight years.
Aston started experiencing symptoms such as frequent migraines, easy bruising, joint dislocations, abdominal pain, anemia and dizziness at the age of 25. However, her doctor dismissed the symptoms saying it was “all in her head.”
EDS is a collection of hereditary conditions that affect the connective tissues, mainly the skin, joints and the walls of the blood vessels. It is a rare disorder that affects one in 5,000 people.
The condition is considered an “invisible disease” as patients most often appear healthy, despite suffering from excruciating fatigue and pain.
“I think most people in these rare positions or invisible illnesses, definitely experience setbacks and disbelieving because things can’t be seen but really the clinical symptoms are there that are being ignored,” said Kelly McQuinlan, founder of the EDS community in New Zealand. “Most people in our community have experienced some form of sort of doctors not believing them or questioning their diagnosis which is extremely hard.”
Symptoms of EDS
There are 13 types of EDS, based on the affected area of the body and the symptoms associated with it. Here are the common symptoms seen in EDS cases:
1. Overly flexible joints – Since the connective tissue that holds together the joints becomes loose with the disease, the joints become overly stretchable, much more than their normal range of motion.
2. Bleeding – In many types of EDS, bleeding from rupturing of the blood vessels is a common symptom. The condition leads to issues like bruising, internal bleeding, rupturing of the uterus during pregnancy, holes in the intestinal wall and stroke.
3. Overly stretchy skin – Patients with EDS may have soft, velvety skin that is highly stretchy.
4. Wounds that do not heal fast – Small wounds on the skin can cause unusual scarring and take a long time to heal.
5. Headaches, dizziness and fatigue – Extreme fatigue, joint pain, overall body ache, headache and dizziness are some of the common signs of EDS.
6. Digestive issues and lack of bladder control – Symptoms of digestive issues such as constipation, heartburn and urinary incontinence are also common.
7. Delayed development of motor skills – Children with EDS may have delayed stages of development such as sitting, standing and walking.
Most types of EDS do not affect the longevity of the patients. However, complications such as bleeding and stroke can turn fatal.
The treatment strategy depends on the type of EDS and is mainly focused on managing the symptoms and preventing complications of the disease. The treatment involves physiotherapy, occupational therapy, counseling and cognitive behavioral therapy to manage pain. Avoiding certain activities like heavy weight lifting and contact sports is also advised for patients.
Published by Medicaldaily.com