We’ve partnered with Inspire, a company that builds and manages online support communities for patients and caregivers, to launch a patient-focused series here on Scope. Once a month, patients affected by serious and often rare diseases share their unique stories; the latest comes from Maryland resident Shani Weber.

I have Ehlers-Danlos Syndrome (EDS), a rare disease that most doctors don’t know much about. There are few specialists in the world, so I worked to find local doctors who were willing to learn about EDS and willing to help me manage it.

EDS is a genetic connective tissue disorder that causes the production of defective collagen. Collagen is found throughout the body so those with EDS can have problems with joints, skin, organs, GI system, vascular system, autonomic system, teeth, eyes, and more.

When I was diagnosed a year ago, I realized that if I'm going to get the best possible medical care, it's crucial to educate my practitioners about the condition. I also knew, though, that I depend upon the expertise and knowledge of my primary doctor, specialists, and therapists. In other words, I needed to view my relationship with my providers as a partnership.

It’s not always easy to form a strong relationship with one's doctors, but here are some ways I help to make my medical appointments more productive:

I write a summary of symptoms and interventions.

I provide charts or graphs, which give my doctors a summary of my health at a glance.

I write questions - no more than three per appointment.

I identify the objective for the appointment so my doctor can start thinking of treatment options.

I speak in a calm manner, understanding that a lot of emotion can take time away from finding solutions.

Since being diagnosed, I've gone to my primary doctor once every two months or so. Sometimes she orders tests. Sometimes she makes referrals to specialists. Sometimes she examines me. But every time I come to her, I bring information about EDS from the Ehlers-Danlos National Foundation, NIH, and various medical journals. It's always material that is relevant to the symptoms I'm currently having, and she always accepts my offerings - laughing about how I supply her with Sunday-night reading.

On a warm summer day, I had the most incredible appointment with her. We got through the questions on my list and devised a treatment plan for new symptoms I was having. She examined my spine and verified that I'm subluxing my vertebrae. I gave her a copy of a study about hypermobility and its association with anxiety, and as we were finishing up the appointment she said the most amazing words to me.

Here is what she said, as I remember it:

I want to thank you for teaching me all you have about EDS. I now know EDS can mean anything can happen. I mean, we were taught in medical school that ribs are stable, but you taught me how they can dislocate. Well, it has made me look at the other EDS patients I have differently. It helps me be open to what they are saying and has meant they are getting better care. I'm also looking at my other patients differently. Now I keep wondering if each one coming in with odd or persisting problems could have EDS. I just want to say thank you.

I replied something along the lines of, "I want to thank you for being a really incredible doctor willing to listen to her patients, learn about a condition that's new to her, research on your own time, and problem solving solutions no matter how bizarre the symptom is. Thank you for being my doctor."

Then we hugged it out.

There are wonderful doctors out there who really care and are willing to learn. It's important to know that building a relationship of mutual trust and respect can help both parties: Patients get the care they need, and doctors can become more educated. Together, these partnerships can make a world of difference.

Shani Weber is a volunteer with EDNF. She advocates for those with EDS, co-leads a support group, moderates and educates about EDS on EDNF’s support community on Inspire, presents (.pdf) at conferences about EDS, and helps others build support groups. Shani lives successfully with EDS thanks to her husband, children, and brilliant medical team.