Rare Disease Sufferers Connect With Internet

Colin T. Son, MD


October 13, 2009

Patients with rare diseases often feel like outsiders. They suffer not only the effects of their illness but also from a lack of access to specialist care and patient education. Luckily, the Internet has helped patients with rare diseases learn more about their conditions and connect with others who have the same symptoms and/or diagnosis.

Robin S, who publishes the blog Survive the Journey, has faced a dilemma such as this with Cushing's disease.

Consider that approximately 90 million Americans (maybe more) have high blood pressure by some estimate. Now, consider that perhaps 5000 or 6000 Americans have Cushing's disease. The sources of frustration are obvious.

I recently spoke with Robin about the long path to diagnosis and what she does to help others struggling with the symptoms associated with Cushing's disease. She provided an insightful glimpse into the world of a patient living with a rare disease.

Colin Son, MD: I'm always impressed by patient bloggers. They're sharing an incredibly personal part of their lives with the whole world. Do you ever have any reservations about blogging?

Robin S: Yes, I often have reservations. In fact, some of my family and friends are just now discovering my blog. I'm a very private person, and sharing some of the not-so-private aspects of this disease can be intimidating to me. But if I and others do not share, how can we educate others about the disease? So I tend to share less than I should but more than I'm comfortable sharing. It is a perpetual conundrum.

Survive the Journey hosts Grand Rounds
on October 13, 2009.

Dr. Son: Tell us a little bit about coming to your diagnosis of Cushing's disease. It seems that you had a lot of frustration with the healthcare system before you finally got the appropriate diagnosis and treatment.

Robin S: I have had symptoms of Cushing's disease since at least my early 20's. I am now 52. I was diagnosed with Cushing's disease in 2006 at the age of 49. That's a long time to be riddled with a disease which essentially destroys the body. No one ever even mentioned Cushing's to me, and I didn't know about it at all.

With my primary care physician's help I saw specialists. [They asked me things like], "What do you want me to do for you?" Or they refused to test me and advised me to have bariatric surgery and go on antidepressants. My primary care physician encouraged me to go elsewhere. I chose to see an endocrinologist in Los Angeles who specializes in endocrine disorders. He ordered the appropriate testing. Within 3 months I had plenty of high tests [of cortisol] and then had an IPSS [inferior petrosal sinus sampling] at UCLA Medical Center to make sure that the source was pituitary. It was. I then had surgery at Allegheny General Hospital to remove a tumor that had grown into my cavernous sinuses.

I have had a lot of anger about this. If someone had just tested me years ago, I might not have the medical issues that I have now. Before the availability of the Internet, it would have been hard to find information, too. I am now in recurrence and retesting (with lots of highs) and have to make some decisions about what to do next, with the guidance of my endocrinologist. In the short term, I'm debating trying ketoconazole to lower my cortisol. I worry about the side effects, especially on the liver. There are no good options. I'll probably have a BLA [bilateral laparoscopic adrenalectomy].

Dr. Son: Who are you trying to reach with Survive the Journey? What are your goals with the blog?

Robin S: I started my blog with 3 goals in mind:

  • to educate others about Cushing's disease;

  • to educate the medical community about the disease and about new research that applies to it; and

  • to keep a record of my journey.

Since then, it's really become more than that. There are many of us in the "Cushie" community who blog. We have a radio show. We tweet. We have Facebook groups, and more. We are a community determined to keep others from suffering like we have suffered. I want to extend all that I've learned to help others find a clearer path to their own diagnosis and cure. I believe in paying it forward. Others helped me.

Dr. Son: Say that a cure for Cushing's disease comes tomorrow. How would your life change?

Robin S: There are so many facets to Cushing's disease/syndrome that I have little hope of one single cure for all. I sure wish there was. Right now, a BLA is the surest way. It is essentially trading an uncontrollable disease for Addison's, which is controllable. And a BLA is not a guaranteed cure due to rest tissue, ectopic tumors, and more.

How would my life change with a "cure?" I would hope that it would include weight loss, regaining of lost muscle, no hypertension, and less cardiovascular risk. I'd love to be able to walk a good distance and ride a bike like I used to. I dream of running on a beach again. Shoot, I'd love to wear normal clothes instead of the maternity look. Most of all, I'd like to hope for time with my parents, my daughters, and any potential grandchildren. Right now, I fear I won't have it.

Reading Robin's story is inspirational for any patient and should be at least a little humbling for any healthcare provider. This week, Survive the Journey hosts Grand Rounds. Grand Rounds is a blog carnival that collects the best online writing each week from physicians, patients, nurses, and others and features it in one easily accessible place.