Susan Shine recalls attending a fundraiser where the host handed her a glass of wine. This simple gesture of hospitality had a mortifying result. “I spilled it all over the place, in front of everyone,” she says.
That can happen to anyone, of course. But for Shine, 68, it happens quite often. “A day doesn’t go by without my spilling or breaking something,” she says. Now she only accepts a drink if she can hold it with two hands or set it down between sips.
Shine suffers from essential tremor, a neurological disorder that causes a person’s hands, head or other body parts to shake involuntarily. The condition affects about 7 million Americans—and one in 12 people over 65. Essential tremor is the diagnosis when the shaking is not caused by another condition such as Parkinson’s disease. It may be hereditary. Shine’s uncle and grandmother had shaky hands.
Shine started to notice subtle tremors in her hands about 15 years ago. They slowly worsened, and she began to have difficulty with basic tasks, such as putting in contact lenses, slicing meat or peeling a potato. Now even bringing a mug of tea from the kitchen to the sofa is “a major expedition.”
Shine first sought treatment in mid-2011, when she met with a neurologist in her hometown of Great Neck, N.Y. She tried three medications over two years, but none curbed the tremors. Shine also experienced significant side effects. Topomax, an anticonvulsant, left her nauseated, with no appetite and low energy. She found herself in bed often, and over a few years lost 30 pounds.
Shine knew that essential tremor is a progressive disease and was concerned. In August 2013 she asked her neurologist, “Who’s the guru?”
The essential tremor expert
Shine’s doctor pointed her to Elan Louis, MD, MS, who was then working at Columbia University. The world’s leading expert on essential tremor, Dr. Louis is now chief of the movement disorders division at Yale Medicine’s Department of Neurology. (He also has a practice in Greenwich, Conn., about an hour’s drive from Shine’s home.)
Dr. Louis has a particular approach to the use of medication. He administers each drug in very small doses at first, increasing doses slowly and tapering off unsuccessful drugs equally slowly. Using this process with Shine, he discovered that one of her medications, primidone, could be more effective in alleviating the tremors if taken at a slightly higher dose.
There were complications: Primidone made Shine irritable, so Dr. Louis suggested that she see a neuropsychiatrist. That doctor prescribed another drug, the antidepressant fluvoxamine, to help her mood, but it worsened the tremors. Now, Dr. Louis has helped wean Shine off the antidepressant, and they have had some success with a new drug, the beta-blocker propanolol.
Despite the frustrations, Shine has no intention of stopping the treatment. She finds the tremors too disruptive. “I’m too young for this old person stuff,” she says.
Today, treatments for essential tremor go beyond oral medications. Many patients benefit from a type of brain surgery called deep brain stimulation (DBS). This procedure involves implanting an electrode into the brain’s thalamus, which relays sensory and motor signals within the brain. The electrode gives off an imperceptible, high-frequency discharge to stop the tremor.
Other patients, especially those with head or vocal tremors, are helped by the injection of botulinum toxins into affected areas of the body.
Shine is still considering the prospect of brain surgery but says she trusts Dr. Louis’s recommendation. Her talks with Dr. Louis have helped her deal with frustration over her worsening condition, she says. He is “a sensitive human being. He listens and gives you his full attention.”
Shine also values Dr. Louis for his expertise. Yale Medicine has the best-financed essential-tremor research program in the world. It was founded by Dr. Louis, working closely with the neuropathologist Phyllis Faust, MD, at a Columbia University laboratory. Dr. Louis is also the founder of the Essential Tremor Centralized Brain Repository, a brain bank that gathers donated organs from across the country, which makes his research possible.
About 10 years ago, Dr. Louis began investigating where in the brain essential tremor originates. Now he and his team know that tremors begin in the cerebellum, in the back of the brain, and they have isolated a location in the cerebellum that they believe is involved in causing essential tremor. They are also exploring a hypothesis that mutations in certain genes can increase the risk of tremor, and another in which a dietary neurotoxin called harmane, which can be found in many foods, coffee and tobacco smoke, may be associated with the condition.
Yale Medicine will soon be home to the world’s first comprehensive tremor center, founded by Dr. Louis. Housed in a new musculoskeletal center, it will provide long-term, multidisciplinary care for patients with tremor disorders.
Patients at the center will have a “gatekeeper,” or primary advocate, along with a range of health care professionals such as social workers, psychiatrists and physical therapists. They will be given what Dr. Louis calls “a menu of services,” including a range of physical, psychological and emotional treatment options including help navigating work, social and personal challenges associated with tremor disorders.
The tremor center will serve as a bridge between Yale Medicine’s patient care and its research network, Dr. Louis says. “It will be a counterweight for our immense research program,” he says. Specialists from across the world will share research and evaluate treatments together.
“We’re learning from patients and giving back to them,” he says.
A better life
Shine’s quality of life has improved. She has figured out ways to complete routine tasks. She has also learned to tell people about her condition before beginning activities, such as eating a meal, that make her tremors obvious. This helps allay her embarrassment and others’ surprise.
Dr. Louis has told Shine that most of his patients who have had DBS wish they had had it sooner. She says she is warming up to the idea, so long Dr. Louis is involved.
“I’m not going to another neurologist,” Shine once told Dr. Louis. “I’ll follow you anywhere.”