The Path to Diagnosis Took Everything I Had

I have Langerhans cell histiocytosis (LCH). LCH is so rare that it is not classified yet; it has attributes of an autoimmune disease and a cancer. Also, LCH afflicts mainly children and smoking adults. That makes my case in particular all the more rare.

I started having symptoms about ten years ago.  It started fairly innocently: I was constantly thirsty. I would drink a liter of water or soda and then experience great thirst ten minutes later. I was initially checked for Diabetes Mellitus; my sugar levels were fine. I was sent to an endocrinologist and was diagnosed with Diabetes Insipidus (a condition that causes the body to make too much urine). That was controlled for several years; during that time I had no other symptoms. But my brain MRI showed an anomaly around my pituitary. The likely cause was thought to be lymphocytic hypophysitis. Several years later I started gaining weight at a rapid pace and was constantly tired. The doctor attributed it to stress, but I knew there was something more. I finally went to Massachusetts General Hospital (MGH) for a second opinion. It was determined that the anomaly was a tumor, and thought to be pilocytic astrocytoma. A biopsy was determined to be high risk, and so it was determined that the best course of action was radiation. After my treatment, I started getting vertigo. After one doctor spent a month not resolving the issue, I went to a top ENT in the area. I found out that there was something odd in my mastoid bone. This time the doctors were able to obtain a biopsy. The first biopsy came back with no diagnosis. On the second attempt, they removed all of what appeared to be a tumor. It took Holy Cross, Johns Hopkins and MGH four months to gain consensus on a diagnosis. Finally, a blood test confirmed that I had LCH.

Over the years I was having symptoms and waiting for a diagnosis, it got harder for me to do anything. The exhaustion was totally consuming, like nothing I had experienced before. When I wasn’t working, I slept. It created quite a strain on relationships with my family and friends. I developed asthma. The weight gain made certain activities impossible. I was always considering how far I needed to walk. I was worried that I would be holding people back. I had to learn to prioritize what I was going to do each day and week. Otherwise I wouldn’t be able to handle all of my activities. It was so frustrating to remember what I could do before the illness. The weight gain was my only outward symptom. People didn’t understand the change in me. It was painful to watch my relationships change.

I am fortunate that LCH tumors respond well to treatment. Today, I am tumor free. Because there is no cure for LCH, I am always at risk of growing new tumors. As a result, I have to get yearly PET scans from head to toe. Unfortunately the delay in my diagnosis resulted in my pituitary not functioning at all. So now I have to take daily medications to mimic the pituitary gland’s function. I will always have hypothalamic weight gain (a disorder where your body thinks it is starving), and I am just so tired. Every day is a challenge.

Trish Russel has been a technical Director at Vencore for 22 years.