Journey to Diagnosis: A New Signpost on the Path

It’s been a long journey to try to achieve a diagnosis. Sixteen years ago I began this quest at Stanford University Hospital with a diagnosis of Marfans Syndrome. After more thorough tests and physical examination, it was switched to Sticklers Syndrome. I was then accepted to a clinical study of connective tissue disorders at the National Institutes of Health. I visited twice for extensive testing and lab work. The second time I was seen, they decided that I did not perfectly fit the diagnostic criteria for Sticklers Syndrome - but neither did I fit clearly into any of the other connective tissue diseases. One doctor told me that I very likely have a new genetic mutation as yet not named. So I left there with an “undiagnosis” of a non-specific genetic connective tissue disorder. It was quite a let down to not have an actual name for what I was living with. I did stay connected with the Sticklers patient group which gives wonderful help and support to members.

After experiencing twelve years of new symptoms and debilitating pain, I hoped maybe at last I could get an actual diagnosis which could give a prognosis and better treatment. I’ve been with my new insurance and doctors for about three months. Although I’ve met some very nice doctors, my hope of finding one who would be eager for the challenge of deciphering my symptoms and specifically diagnosing me did not happen. I decided since my new insurance covers Stanford University, I would go back and be genetically evaluated again and see if anything new could be determined. 

Two weeks ago, my wish of seeing someone who was truly interested in figuring out my case came true. I spent an entire day being tested, measured, interviewed, and evaluated by a group of very caring people in Stanford’s Marfans Clinic. It was fantastic to have so much time dedicated to my case - not getting rushed through in fifteen minutes - and all my concerns were listened to and addressed. I want to send out a big “Thank You!” to Sunny the center coordinator, Char the nurse coordinator, and Dr. Liang the cardiologist and associate professor.

And what is my new diagnosis? I still do not fit exactly into the diagnostic criteria for any of the connective tissue disorders. However, Dr. Liang felt the best match for my current symptoms is Ehlers-Danlos III - Hypermobility Type. I agree with him. I am still doing some research on the disorder and starting to connect with people in the patient group, but it think this disorder is a much better fit. However, I have to admit that given my journey and what I know about genetics, I wouldn’t be surprised if in the future my diagnosis is once again changed, perhaps to a new disorder yet to be discovered.

For now, however, it is reassuring to have a name for my condition and a place to go for information from doctors and patients. Next week I’ll be having MRI and CT scans of my spine and then I’ll have a consult in Stanford’s Pain Clinic. Wish me luck!