I took a hundred-mile drive (each way) to meet with a geneticist today.  She went over a detailed family history, went over my medical history, examined my joints, took a Beighton Score, and examined scars on my body.  And she diagnosed me with Ehlers-Danlos Syndrome: Classical Type.  The diagnosis of EDS did not surprise me, but I had been expecting the Hypermobility Type rather than the Classical Type.  There is no cure for EDS, and there really is no treatment, either.  To manage the disorder, we manage the symptoms.  Treat pain, use physical therapy to strengthen the muscles so that they can take some of the stress from the connective tissues.  Avoid activities – like contact sports – that are riskier for injury, and keep up with low- or no-impact exercises like walking, bicycling, and water exercise to keep the muscles in shape.  Be prepared for early-onset osteoarthritis.  And stay informed of the latest research and news.

My reaction, now that I’m home in the quiet, is mixed.  I’m glad to have this diagnosis confirmed, since it’s what I’ve strongly suspected since early this summer.  At the same time, there is a definite sense that today is a threshold.  All the days before today are different than all the days after today, even though I’ve had this inherited disorder since before I was born.  Today, I no longer suspect.  Today, I know.  I have an inherited connective tissue disorder.  My sister has it, and my mother, and my mother’s mother.  My daughter may well have it, too.  It has been amazing to read accounts of other people online who have this rare disorder, to read their stories and gasp, because it sounds just like my own life.  My mother and sister had similar reactions.  And when I call them tonight, they will know they have it, too.

I haven’t reflected on this a whole lot yet.  I’m sure I’ll have more maunderings to write in a few days, a few weeks, a few months.  For now, I’ll just say I’m glad I pushed the pain management specialists, and I’m relieved to have a name for this great unknown.  Now to grieve for the self I leave behind, and to look forward to shaping and forming the self I am growing into.