Contributor: Ann Poorboy
When living with a rare disease, you often have to wait until you’re a textbook case before you can be properly diagnosed and connected to therapy. Until then, you’ll often have to go through one misdiagnosis after another, and solutions that don’t solve your underlying problem. This is true for Cushies. Those folks who suffer from Cushing’s Disease. “Cushies” is a name they give themselves. Some attribute it to the fat deposits that come from the disorder, others are more focused on the moon face that is often attributed to the disease. One woman, Maria, describes her entire diagnosis journey as a series of selfies. She walks you through one selfie after another describing how she felt about herself in each photo. In the beginning she was a normal, healthy, athletic person. As the disease progression continued, despite attempts at therapy, she talks about how she didn’t want to leave the house since she was so ashamed of who she became. Weight gain and acne aren’t for everyone. Neither is living in pain each and every day or feeling exhausted all the time.
These are common symptoms of corticosteroids. Some folks who have needed to take prednisone for any length of time may be familiar with these symptoms. But even they can’t appreciate the extent to which those who have the exogenous form of Cushing’s syndrome endure. But when you’re body is producing its own, such as in the endogenous case where your body is simply overproducing cortisol, and the internal triggers to shut down that overproduction are silenced, you need to find answers. Often those answers are found in a tumor. Pituitary tumors are reported as being the underlying cause of 70% of endogenous cases, while Adrenal tumors account for only 15% of the endogenous cases. This is a situation where a very small tumor makes a very big impact. The pituitary gland is about the size of a pea, and the tumor (adenoma) is often smaller than that. Surgically removing the pituitary adenoma often offers the only long-term cure of Cushing’s disease.[i] Experienced surgeons sometimes use a minimally invasive approach entering through a nasal passageway. A number of people with Cushing’s who undergo surgery find that months, or even years later, their symptoms return. In these instances, or if a patient is not fit for surgery, physicians will have to explore other options.
But what does this mean for the folks suffering from Cushing’s? It means a moon-shaped face. It could mean they notice they have more frequent and more severe headaches, it could also mean they start to bruise very easily or have excessive facial or body hair. But on a serious note, while these may be what the individual patient is focused on, we need to understand they are also facing other conditions that coexist such as diabetes or osteoporosis. If Cushing’s is the underlying cause, these may side-track a physician and leave the underlying cause unknown. As I mentioned earlier, Cushing’s usually requires a patient to get to “textbook status” before they’re diagnosed. And by textbook status, I mean having all or most of the signs or symptoms of Cushing’s.
If you are living with Cushing’s, you may need to be your own advocate until you get diagnosed and properly treated. UCLA has a pituitary program that offers clinical trials on the treatment of Cushing’s disease. One patient says it this way – because it took so long for her diagnosis, the abnormal cells had time to have a party inside her body and the damage is irreversible. Her diagnosis was by a mid-wife. Her years of pleading with physicians that something was wrong went unheard. Her cries that she wasn’t just “fat” were silenced by doctors looking at the obvious, and ignoring the subtleties of the rare disease phenomena. My orphan drug team sees this all the time – the people medically managing the patient aren’t people any rational brand manager would ever suspect.