About eighteen months ago now, my youngest daughter was diagnosed with Ehlers Danlos Syndrome (EDS) by a geneticist at the same time as my husband was.
For a long time prior to her diagnosis, she was experiencing symptoms that left me and my husband confused and concerned.
When we finally got her diagnosis, it all made sense and we felt relieved because we knew what was bothering her, what exacerbated her symptoms and what we can do to help her.
I knew something wasn’t quite right when she would constantly complain of pain when walking and couldn’t walk far, and needed constant carrying. And she wasn’t a small child, either!
It was heavy for me. She told me it felt like the soles of her feet had glass in them. I remember as a toddler she would walk a little bit, but after too long would flop down on the floor and not be able to move anymore.
I would have to carry her a lot and make space for her to rest constantly.
Being the youngest of four daughters, my youngest daughter’s condition meant that a lot of the time we had to go slower as a family and not do as much activity-wise, because she couldn’t handle it.
I also have distinct memories of the way her wrists felt when I held her hand as she walked, because her joints would grind together and pop out, subluxing (partially dislocate). She seemed to always be sort of ‘floppy’ in her body, like a noodle, and experienced a lot of fatigue and pain on a daily occurred.
Symptoms of Ehlers Danlos Syndrome
Other symptoms she was experiencing include:
- Flat feet, with knees turned in
- Hypermobile joints which extended way beyond the ‘normal’ range including wrists, hips, elbows, knees and ankles
- Increased proprioception that is, she was very heavy on her feet when she walked, because she was seeking deep pressure to help her establish her space in an environment
- Skin that bruises very easily and doesn’t heal well
- Overall pain throughout her body
- Increased sensitivity to food, with gluten making her pain worse
- Lower muscle tone
- Pain when holding a pencil or doing fine motor activities for extended periods of time
Constantly needing to move around/shift body when seated due to pain from being in one place for too long
Reduced capacity for physical activity and increased fatigue
Lower than average gross motor skills
Whilst all of these symptoms are not diagnostic criteria (you can find that here), they all definitely helped to explain her condition and why it was affecting her like it did.
What is EDS, anyway?
It is a rather long name for a rare condition which affects the connective tissue in the body of individuals. That is, someone diagnosed with EDS has a body that doesn’t produce collagen properly which is something that basically acts like the ropes that tie the body parts together. And no, you can’t take a collagen supplement for it either.
There are currently 13 different types of EDS, each unique and with different symptoms and at this time with ever-expanding research it affects between 1 and 2500 people and 1 in 5000 people, depending on the type. The condition can affect every single part of the body in different ways, ranging from limbs and joints to teeth and skin.
People like my daughter (well, daughters now, because #2 also got diagnosed later on) and husband who have EDS have very fragile skin that can rip and tear and bruise very easily, and they can also metabolise medication differently to everyone else too. To say it’s a complicated condition would be an understatement!
EDS is a genetic condition, which means it is inherited through families. As soon as my daughter was diagnosed, my husband was also given a diagnosis for his large list of symptoms which previously, had not been connected together as being part of the same condition. In being diagnosed, we were all now able to get the right support.
Individuals can have EDS for a long time in their life without having symptoms or experiencing pain, it isn’t always obvious in presentation at first.
So how is EDS managed for a small child?
For my daughter, it means she needs to take regular breaks. Because her pain and fatigue isn’t instant, it’s delayed, a lot of pre-emptive down times are built into her daily routines both at home and school. She is not allowed to do any high-impact sports at all because this can cause dislocations and damage to her joints leading to more pain.
It is super important for her though to build on her core strength because this is what helps her to keep moving.
Due to my advocacy skills as a parent, we are fortunate enough to access a range of support services for my daughter, including a podiatrist who fitted her with custom orthotics, an occupational therapist who visits her weekly, a physiotherapist and also a psychologist.
She does weekly swimming and although she can’t walk far some days, she can ride her bike for about 4 km without training wheels! We are in the process of accessing a wheelchair to her to utilise on days out when she
Ehlers Danlos Syndrome can be an incredibly debilitating disability, largely because it is invisible. To the outside, my daughter looks like any other child. Awareness about EDS really helps to make my daughter feel more included, and less alone.
This article was first published in Kidspot and was republished on theAsianparent with permission.
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