Ehlers-Danlos Syndrome
Andie had a rare genetic disease, vascular Ehlers Danlos. Genetic means that in every cell in her body, she had a mutation, a defect, in her DNA. The gene that codes for a type of collagen, the COL3A1 gene, had a defect. How did we know? She had a genetic test done when she was about 15 years old that gave us those details. What is collagen? It’s an extremely important protein that makes up most body structures. You can think of it as a building block that gives every body structure its shape; from skin to organs to blood vessels. The COL3A1 gene that was defective in Andie made a particular type of collagen (Type III) structurally unsound. This made Andie’s blood vessels, uterus, digestive tract, skin, and really any hollow organ extremely fragile.
Andie was fortunate that, like many other vEDS patients, she had a high pain tolerance. That means when you would see her with giant bruises from broken blood vessels often times she did not feel the pain like a normal person would. This also meant if she did feel pain she had a major problem. One day in school, she tore the skin on her arm on the door jam just by brushing up against it. She was shocked when she saw how bad of an injury it was as she did not have much pain from it. She ended up needing a bunch of stitches to repair the wound. This is why it is extremely important for doctors to take extra precautions with vEDS patients. They have less pain detection than that of an average person.
Hoping to help spread awareness and help at least one vEDS patient! More information below.
Andie was fortunate that, like many other vEDS patients, she had a high pain tolerance. That means when you would see her with giant bruises from broken blood vessels often times she did not feel the pain like a normal person would. This also meant if she did feel pain she had a major problem. One day in school, she tore the skin on her arm on the door jam just by brushing up against it. She was shocked when she saw how bad of an injury it was as she did not have much pain from it. She ended up needing a bunch of stitches to repair the wound. This is why it is extremely important for doctors to take extra precautions with vEDS patients. They have less pain detection than that of an average person.
Hoping to help spread awareness and help at least one vEDS patient! More information below.
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