A Rapid Diagnosis for a Rare Disease
Cathy Sanders is the kind of person who rarely goes to the doctor and never expected to have to go to the hospital. But all that changed in March when her daughter came home from school and found her barely conscious. The 51 year-old Arnold resident was in critical condition and suffering from a very rare disease in which the body’s blood vessels leak fluid, causing swelling, fluid in the lungs and extremely low, unstable blood pressure.
What I have is called systemic capillary leak syndrome or SCLS. It’s very rare: I’m the 151st person in the world to get this diagnosis. I was so lucky, that not only did Dr. Patel figured out what it was, but Dr. Morganti was able to do the surgery I needed. The whole team was just excellent.
After about 24 hours in the hospital I’d received 34 liters of IV fluid, which was keeping me alive, but my blood pressure wouldn’t stabilize. I was getting compartment syndrome which is when fluid builds up so severely that it cuts off circulation to the muscles. I needed surgery, which involved cutting through the skin and connective tissue to allow all those fluids out and release the pressure before there was severe tissue damage. I was in very bad shape. My heart rate was dangerously low, I had metabolic acidosis, and was going into respiratory failure. In spite of all this, Dr. Morganti and the two anesthesiologists were able to intubate me and keep me alive and do the surgery.
Meanwhile, no one knew what was wrong with me. There were four different critical care doctors all consulting to figure out what was going on. Dr. Patel was actually driving home after work when it hit him. He called Dr. Kirk Druey at NIH, who is one of the few people in the world studying this disease, and he confirmed the diagnosis.
It’s incredible that I was able to wake up after that surgery and be told “here’s what’s been happening to you.” Of the four stories I’ve read about SCLS cases, one woman in Louisiana had attacks for ten years and had seen 70 specialists before being diagnosed. The three others were not able to get the surgery I had, and spent months in ICU, burn units, and rehab to relearn how to walk with the permanent tissue damage. That didn’t happen to me because of the incredible staff at the hospital.
I spent 15 days at AAMC, and had a few weeks of physical therapy at home. About two months after it all happened I was able to work again, and now, it’s just a matter of building up my strength. I have a small massage therapy practice, and it meant a lot to me to get back to work and see my clients again.