Imagine feeling normal one day, then waking up the next day barely able to see. Within a few months you are paralyzed, your blindness has worsened, and doctors are unable to find the cause of any of it.
That had been the progression of Devic’s disease or syndrome since Dr. Eugene Devic first described the mysterious symptoms of his patients in 1894. In the years since, patients have often been misdiagnosed with multiple sclerosis (MS) because of the similarities in symptoms. Yet doctors remained puzzled as to why patients with Devic’s disease didn’t respond well to the treatments traditionally given for MS.
Recent research has improved the diagnosis and even enabled early diagnosis before the onset of the severe, debilitating symptoms of blindness and paralysis initially described by Dr. Devic. Since early diagnosis is now possible, the disease is now preferably called neuromyelitis optica, or NMO. The name also accurately describes the two areas of the body most affected by NMO – the optic nerve and the spinal cord.
Researchers discovered the presence of a protein, Aquaporin-4, in the blood of NMO sufferers that is not present in patients with MS. They also have identified early symptoms that doctors can look for in a patient to alert them to test for NMO. Early symptoms include pain in one part of the eye, unexplained nausea and vomiting, numbness, tingling or weakness in the limbs, vision changes, loss of bladder and bowel control, painful spasms, and even persistent hiccups.
Although these symptoms can be indications of other diseases, including MS or stroke, the persistence and worsening of the symptoms indicates to doctors the serious nature of the patient’s condition and the need for testing to determine which disease is the cause. Hopefully, the doctor will order the blood test for NMO as well.
That was the case in 2008, when 14-year-old Ali Guthy suddenly began to lose her eyesight overnight. Her doctor made the unusual, but fortunate, decision to test for NMO to rule it out. Instead, Ali’s test came back positive for the rare disorder. She and her family were told the disease could progress to blindness and paralysis within five years.
Finding doctors who specialize in the treatment of NMO, however, was more difficult. Victoria Jackson, Ali’s mother, searched exhaustively for doctors, researchers and websites that could shed light on the mysterious disease. Finally she located Brian Weinshenker, MD, a specialist in NMO, at the Mayo Clinic in Rochester, Minn,. Jackson soon learned, however, that there was no cure for NMO and very little research being done. So she began to assemble a team of researchers and doctors in major research institutions who could contribute their expertise to her mission. She and her husband, Bill Guthy, founded the Guthy-Jackson Charitable Foundation to fund research into NMO.
“I became a mom on a mission to find a cure for NMO,” explained Jackson. “Today, the Guthy-Jackson Foundation is funding 80 researchers and scientists in 12 countries.”
It remains the only foundation focused solely on solving the mysteries of NMO. A large part of the foundation’s goal is to educate the public about the rare disease so more people can be accurately diagnosed and more research funded.
Currently, it is estimated that approximately 4,000 people in the U.S. suffer from NMO. Exact numbers are difficult to pinpoint because sufferers are still often misdiagnosed with MS. Many more women than men appear to be struck with NMO, at the rate of 6:1. Although more women than men suffer from autoimmune diseases in general — where the body inexplicably turns on itself and develops antibodies that affect various parts of the body — NMO has an even higher number of female sufferers than most autoimmune diseases. Triggers appear to be genetic or environmental and have not been definitively determined.
NMO is typically treated aggressively with steroids to “calm down” the immune system so it stops making the antibodies. Steroids also reduce the swelling and inflammation that can cause pain and other symptoms. Then doctors determine whether longer term treatment with steroids is necessary. There is still no cure for NMO. Yet research has made huge strides in changing the progression of the disease for patients. Ali Guthy’s severe symptoms were reversed with treatment, and other patients are experiencing similar outcomes. It’s a far cry from the dismal outcomes patients once were told to expect. The Guthy-Jackson Charitable Foundation plans to continue to fund more research into better treatment and a cure for NMO — answers that may help unlock the secrets to other autoimmune diseases as well.