Finally, A Diagnosis

This little girl has had a rough last year - she seems to get hurt all the time. Little bumps and falls turn into big bruises (with goose-eggs) and big cuts needing stitches. She's had stitches (or dermabond glue) 6 times in the last year. Her legs are always black and blue and covered with goose-eggs. She seems to get hurt by things that wouldn't hurt your average kid, like falling and cutting her knee on a hard plastic toy. Every time she gets hurt we just wonder what is wrong with our little girl?? Of course every time I asked my doctor he would just say that she's a little kid, she's going to get bumps and bruises.

Well Brent and I couldn't shake the feeling that something is not normal with her skin. I started researching online (somewhat dangerous in my opinion, since that can just scare you). I found out about a skin disorder called Ehlers-Danlos Syndrome that had symptoms very similar to those we had already noticed in Sadie: fragile skin, bruises and cuts easily, low muscle tone, even having a collapsed lung (which she had at birth). There were other symptoms listed that I checked to see if she had - velvety textured skin, hyper-elastic skin (stretches far when you pull on it) and she had both of those. Still, I wasn't totally sure if she had this skin disorder, since some of the pictures and symptoms listed online were more extreme then she had. So we decided to make an appointment with a pediatric dermatologist.

Meanwhile, Sadie had her 2 year check up (we had to do it late because of some weird insurance policy - lame!) and I again asked my doctor about her skin. He didn't think the injuries were any cause for worry, but I asked if he would check the elasticity of her skin. He did agree that it seemed more stretchy than normal, then he tested her joints for hyper-mobility by pulling her thumb towards her forearm - and she could totally touch it with no strain at all. He said she probably has a genetic skin disorder and wants me to see a geneticist for a diagnosis. Interesting .....

So we have an appointment with the geneticist for the end of September (these doctors are a rare speciality and so high in demand). I just decided to keep my appointment with the dermatologist for a second opinion. This lady was wonderful (Sadie hates doctors - surprise - so I really appreciate when we see a warm and patient doctor). After looking at Sadie's legs and knees, and the scars of the cuts she already has, she immediately said that Sadie has Ehlers-Danlos Syndrome, which is a genetic skin disorder. Typically someone else in our family would have this and passed it on to her, but we don't know of anyone else with similar symptoms in our family history. She said it also can happen because of a genetic mutation, but that is more rare. Sadie has all the symptoms of Classic EDS (rather then some of the more rare, scary forms) such as "doughy" and "velvety" skin, the way her scars spread as they heal, becoming more pronounced instead of straight, the hyper-elastic skin, the hyper-mobility of her joints (she said Sadie is very prone to dislocation and to avoid heavy contact sports), the bruising, the goose-eggs, the fragile skin that cuts easily, all these things are caused by this skin disorder.

There is nothing they can do to treat EDS and it doesn't affect mental abilities or life span, etc. It just means that she'll be more susceptible to injury. It is just a relief to have a diagnosis, to know there is a reason why she gets hurt so easily and know that we are not just paranoid parents. It also makes me grateful for the promptings of the Spirit (or as doctors call it - mother's intuition) that made Brent and I recognize that something wasn't right and try to figure it out. The dermatologist would also like us the meet with the geneticist to confirm the diagnosis and see if further testing is needed. I'm still learning about this disorder and am grateful that it is not something more serious. I'm grateful to live near a large city with all these specialists readily available. And I'm very grateful for a little girl who is so sweet and tender and keeps on smiling (unless she sees someone in scrubs and realizes that she's in a doctor's office).

sorry for the super long post - this is for my own journal too.