Published: 19/06/2019

Learning how to adapt to life with cEDS

By Liz H.

My daughter, Frances, was diagnosed with cEDS when she was almost 2 years old. We feel lucky that we were able to obtain a diagnosis so young, knowing that many EDS patients spend much of their lives trying to figure it out. It’s possible that we also would have been in the same guessing game, or that we would not have noticed the differences in Frances had we not already had two older daughters without EDS.

By way of comparison to them, I knew right away that something was not right. Her skin was so velvety, and her feet were pronated. More noticeably, she had small fatty cysts that popped out on the insides of her arches whenever she put weight on her feet. I took her to a pediatrician who told me nothing was wrong, but a parent knows. I then tried an orthopedist who, thankfully, knew to send us directly to a geneticist. The rest is history — she was diagnosed with a mutated COL501 gene causing her to have cEDS. Immediately my husband and I were tested. When nothing was found, her case was described as sporadic, or “de novo”.

Frances’ main issue is her fragile skin. This is not to say she doesn’t have joint pain and occasional dislocations. Her skin, however, is a double whammy. First off, she is much more prone to lacerations that an average person. Second, her skin takes longer to heal and scarring is worse. Her first accident was falling lightly on rocks at her preschool. We quickly found out that stitches make most lacerations worse because the skin is so thin that the stitches can tear through, creating still more healing time and more scarring.  We use glue and steristrips, unless the cut is very serious.

The worst of her accidents was in 2016 when she fell off of a kids scooter and onto its metal edge. On any other child this may not have even torn the skin. She was put under anesthesia and sewn up inside and outside of the skin. She was later splinted to immobilize her entire leg, as by now her doctor knew that any stretching of the skin would pull these stitches out. Later, when the splint was removed, she had to do a month of PT, as her immobilized ankle caused her to develop “drop foot”. Again this outcome was more than likely due to her propensity for joint difficulties. The only fun that came of this accident is that her scar looks, literally, just like a shark bite. Frances likes to tell people when they ask what happened to her leg (and it’s incredible how many people actually do ask), that she was attacked by a shark.

At times we find that the most unsuspecting thing can cause a laceration. For example, she was once cut by the end of her spiral notebook while trying to place it in her backpack! After a month of steristrips it was healed, but not without a scar.

Now Frances is 11. We have known from the start how to limit her activities. Instead of playing lacrosse and volleyball like her sisters, or doing gymnastics with friends, she swims, sews, golfs, and is an avid reader. She is in and out of PT to strengthen her joints. There are times when she feels left out. There are times when her friends think she is exaggerating a pain or “faking it” but luckily (or unluckily), she has the scars to show that she really is more prone to accidents and gets hurt more easily.

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