Monday, July 2, 2012


My niece has a debilitating disease.  It’s not life threatening.  It’s best described as quality of life threatening, and it has become a recent source of fascination for me to watch her maneuver through its ramifications.  She claims she was always “the weird kid,” but my recollections of those sorts of symptoms are vague and fleeting, mostly due to the 1500 miles that separated us when she was younger.  I do remember her always scratching what I thought were mosquito bites until they bled, something she in fact still does, and that a fall at camp when she was 12 resulted in her wearing an embarrassing and uncomfortable back brace for an entire year.  That was just the beginning.

The back issue was diagnosed as the unpronounceable Spondalylisthesis, and, coupled with a pair of cracked vertebrae, led to much-delayed fusion surgery.  A year later, she was in at least as much, if not more, pain than prior to the operation.  A new set of x-rays surprised her celebrated orthopedic surgeon—the fusion had failed.  His first such failure.

There were many strange symptoms that seemed unrelated until a friend suggested she visit a holistic M.D. who specializes in diagnoses.  The conclusion was Ehlers-Danlos Syndrome, a little known but not so rare collagen disorder that impacts joints, bones, skin and so many other things.  Suddenly, it all made sense, so now she navigates a maze where one discovery leads to more research and several new phone calls before resulting in some useful resource or information, all very time consuming and energy draining.  I’ve always referred to her as nothing less than resourceful, and in these last several months since she has relocated here, she’s been the definition of the word.

The challenges (a favorite word) are endless because no two days are the same in terms of pain, symptoms and energy levels, and new things crop up unexpectedly.  This is not a condition with a well-defined set of symptoms and therapies.  There is nothing consistent about it other than it’s a puzzle that requires constant attention and flexibility.

Exasperation at constantly having to explain her condition led her to query the genetics department of a major local hospital as to whether they had a research project on her particular illness.  They not only do, but the team of researchers immediately wanted to meet her.  They, in turn, referred her to a team of local specialists, ones to whom she no longer has to explain, so now she has the qualified medical support she needs.

What strikes me most is her ability to soldier on despite the challenges.  The actual diagnosis was liberating—it said “I’m not crazy after all.”  It allowed her to make plans, and finishing college was one of those, which is why she is here.  Now, seeral months in, it seems doable though not at any rapid pace.  She has sought out help for even the simplest of tasks, but she has also done excellent work she can now be proud of.  The task ahead is to keep up the momentum of learning while addressing her health issues, which are two full-time endeavors.