Chewymom

I have been accused of being a hypochondriac. I have no idea why. Just because I diagnosed myself with a brain tumor on Web MD, only to learn that it was, in fact, a sinus infection….Oh, and there was the time I discovered that Sally and I both had Celiac disease, and darned if it didn’t turn out that we had a parasite.

And I have been known to spend a lot of time on medical websites whenever a slight abnormality appears. For anyone in my family. Maybe I just like playing doctor.

Lately I have been barking up a different tree. And I did not initiate the hunt. Since Sally began walking, five-plus years ago, she has over-pronated. At first, it was so bad her two smallest toes did not touch the ground, but her inner ankle did. Over time she straightened up a bit, but her gait has continued to look awkward and uncomfortable. I mentioned it to her pediatrician. Repeatedly. And I suppose I finally wore him down. He referred us out to a pediatric orthopedist.

This orthopedist x-rayed her little ankles, then fiddled around with her feet, bending them this way and that. He watched her walk, then hop, then stand on tippy-toes. And then he sat her on the table and said, “Sally, show your mother how you can touch your thumb to your forearm.”

And I’m thinking, “HUH?”

Sally complied, and the doctor asked if she ever had growing pains. I said no, but her brother had HORRIBLE ones. He then asked if anyone else could bend their thumbs down like Sally. I said, “Well, yes, and in fact, one of my sons can bend it BACKWARD and touch the BACK side of his arm.”

The doctor looked at me and said, “Your family needs to be tested for Ehlers Danlos syndrome.

This was a few weeks ago, and life has not been the same since. To shorten up this story a bit, all five of my children and myself were diagnosed by a geneticist with Ehlers Danlos syndrome, type 3 (hypermobility). There are a million symptoms that can go along with this, and I am still learning new ones every day, but the two main ones are that you have hypermobile joints and stretchy skin. Which I have.

Call me Elasti-girl.

If only. If this EDS were actually USEFUL in that way, I might be thrilled! But in fact, it can lead to dislocations and significant pain. I am happy to report that none of us has severe pain at this point, and hopefully we have learned about this early enough to prevent problems in adulthood for my children. But we are definitely on a path of learning and discovery as I research all I can, try to get us in to see the nation’s leading specialist on this disorder, and work to balance protecting our joints with maintaining our normal life.

If you want to read more about HEDS (that’s shorthand for hypermobility Ehlers Danlos syndrome), check out this link, given to me by our geneticist.

This entry was posted on Thursday, April 16th, 2009 at 8:19 pm and is filed under This and That. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.