Quite a lot of children have extra movement in the joints and that is normal and tightens as they age. Hypermobility means more than normal and the severe end is when they call it Benign Joint Hypermobility. It is an inherited condition which means both parents have some form and pass it on to their child. Andrew looks like he has nothing and I have it all though. My symptoms were never recognised as a child and I was seen as flexible and suffered from growing pains. I can remember even as an adult laying on my stomach and getting my feet onto the back of my head....fancy party trick.
With Miss A we new she had BJH and low muscle tone and just worked on ways to improve it. She never saw a specialist and a lot of her symptoms were tied up with the cerebral palsy diagnosis. At age 5 she still has low tone and struggles with sitting for a long time and too much running or joint impact. I'm hoping it eases as she gets older and learns when to stop pushing herself.
For Miss L I asked to see a rheumatologist to get an idea of how she is affected. As she was a sick floppy baby it's hard to tell what was medical and what was BJH. Today we saw Dr Kevin Murray at
PMH and I got an earful :) I love a Dr who takes the time to listen and answers all questions even if some were about me.
After being checked over he said her left hip was clicky, her knees were extremely mobile, her shoulders, fingers and wrists were loose and her feet. Overall pretty much every part was affected some more than others. The knees and hips were a concern and the shoulders were visibly loose. No wonder she gets out of her clothes all the time. He noticed her bruises and looked at her skin and then told me she has Ehlers-Danlos syndrome.
Ehlers-Danlos syndrome is a connective tissue disorder. Ehlers-Danlos Syndrome EDS Organisation
Miss L is more likely to have hypermobile classification
She has the soft velvety skin (which I thought was just her keeping her baby skin), easily bruises and cuts, slow to heal, poor muscle tone and joint hypermobility. Her skin is looser and more fragile than normal. She crosses over into the Classical group which is normal as well. It's rare to fit perfectly into any diagnosis.
So what does it all mean? Basically she will have it for the rest of her life the same way I deal with BJH. It is unlikely to lead to arthritis but they have an increased risk. It did explain a few things like the delayed speech may not just be developmental delay it could be due to her loose jaw and the difficulty in closing and opening. It also explained her reflux and gagging. The Dr said the swallowing muscles were affected so she has trouble moving food down. At the moment she doesn't chew which we found out last week so now we know why and we know it may be an ongoing issue. Having an explanation also means the therapists can run a targeted program to improve her skills. Although the tissues won't improve and she will still face issues with therapy she can work around them and start achieving some goals.
I want to see her eating food properly, walking without tripping, swallowing normally, staying in her clothes!!!
Another one with no clothes but here on her back especially you see the loose skin.
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