Patient perspective: Essential tremor with onset in childhood

INTRODUCTION — This topic was written by an individual patient diagnosed with essential tremor (ET). It is intended to offer clinicians insight into the experience of a single individual from that individual's point of view. This description of a particular patient's experience is not intended to be comprehensive or to provide recommendations regarding diagnosis, treatment, and/or medication information. It is not intended to be medical advice or to be a substitute for the medical advice, diagnosis, or treatment of a health care provider based on the health care provider's examination and assessment of a patient's specific and unique circumstances.

For related clinical topics, please see:

●(See "Essential tremor: Clinical features and diagnosis".)

●(See "Essential tremor: Treatment and prognosis".)

●(See "Surgical treatment of essential tremor".)

UpToDate also offers patient education materials. "The Basics" topics are short overviews written in plain language, at the 5^th to 6^th grade reading level, that answer the main questions a patient is likely to have about their condition. "Beyond the Basics" topics are written at the 10^th to 12^th grade reading level and are intended for readers who are seeking more detail and are comfortable with some medical terminology. You can share this content directly with your patients:

●(See "Patient education: Tremor (The Basics)".)

●(See "Patient education: Tremor (Beyond the Basics)".)

BACKGROUND

Signs and symptoms — I first felt the symptoms of ET when I was around 12 years old, which is quite young. Over the years, the condition has taken an enormous physical and emotional toll on me.

The first sign was shaking of my hands, more pronounced on my nondominant side. Over time I developed head tremor, and in recent years, a moderate voice tremor. My symptoms have worsened dramatically as I've aged, and they are incredibly debilitating. ET has made even the simplest of daily tasks exponentially more difficult, and the harder I try to control it, the more I shake.

Unfortunately, people have often misinterpreted my ET as nervousness. ET is not a nervous person's ailment. My tremors are exacerbated by any extremity of emotion, whether good or bad: excitement, sadness, joy, nervousness, or anger. They are also worsened by caffeine, fatigue, temperature extremes, and certain types of medications.

My painful introduction — I was keenly aware that I shook more than the average person, but it didn't faze me until high school. When I was a sophomore, I had to give a speech in civics class. The teacher refused to let us use a binder, notebook, or podium for our notes. The only thing we could use was a set of 3x5 index cards; as a result, my hands, and the cards, flailed wildly throughout the speech. When I was done, my teacher grabbed the note cards from my hand and mockingly said, "Wh-wh-who, m-m-me, n-n-nervous?" while shaking his hands violently. The class roared with laughter.

I don't think the teacher ever realized what a profound effect that experience had on me. I was traumatized: I became acutely aware that I had a condition that was painfully obvious to the rest of the world, and they didn't mind making fun of me for it. At the time, I had no idea what was going on with my body. I was adopted, and nobody in my adoptive family had tremors, nor did anyone else I knew. I assumed I had a character defect, a moral failing that manifested itself repeatedly. I beat myself up for being a weakling who didn't have the fortitude to handle life's challenges. It was crushing.

DIAGNOSIS

Fear and shame — Ironically enough, I became a teacher, perhaps because I wanted to give children the safe space that I never had when I was in school. This is also the time when my symptoms accelerated. I was beginning to have significant issues with my handwriting, and as an English teacher, this was a potentially devastating impediment: I needed to leave comments on kids' essays, bubble in grades on prepared forms, write on the board, and pass out papers. The more my symptoms worsened, the more I worried that my shaking might cost me my job.

A stroke of luck — I didn't seek medical advice until the age of 30 or 31. My head had begun to shake along with my hands, and I began to suspect that my shaking might be a sign of a brain disorder. I was extraordinarily lucky that I unknowingly made the appointment with a neurologist who specialized in movement disorders such as ET, Parkinson disease, and Tourette syndrome. Many patients are misdiagnosed until they see someone with the right expertise.

Finally, my enemy is revealed — The neurologist meticulously cataloged my symptoms and reviewed my medical history. He examined tendon reflexes, muscle strength, tone, posture, and gait. He then used several tests – drawing concentric circles, going back and forth between touching the tip of my nose and touching the tip of his finger, drinking water out of a paper cup, walking back and forth down a hallway – to confirm that I was almost certainly suffering from ET.

He explained why he was conducting each test and how the results helped him reach his conclusions. One of the key points he stressed was that I had an action tremor; thus, my tremor kicked in when I attempted to use my hands to perform a task. He explained that this symptom was a hallmark of ET, whereas patients with Parkinson disease tended to shake when their hands were at rest. Mine didn't shake at all when they were resting in my lap.

Despite the questions swirling in my mind, I wept with relief because I finally knew the name of the enemy I was facing. And it wasn't a character defect. I also discovered that I was not alone: ET affects millions of people and is much more common than Parkinson disease.

Postdiagnosis questions — I peppered my doctor with questions, which I hope all clinicians explore with their ET patients:

●What caused this condition? Did I inherit it? Was it something in my environment? Was it a result of head trauma that I might have suffered earlier in my life? Was there a psychological cause?

●Could ET turn into Parkinson disease? Did it make it more likely that I would develop Parkinson disease in the future?

●Were there imaging tests like computed tomography (CT) or magnetic resonance imaging (MRI) scans that could help with the diagnosis?

●Was this just a physical disorder, or could it lead to cognitive impairment as I aged? Were there other symptoms to expect in the future, like balance issues, speech impairment, or postural difficulties?

●What were my treatment options, from most conservative to most aggressive?

●Were there alternative approaches to gaining relief from the symptoms, like meditation, acupuncture, herbal derivatives, or massage? What about adaptive devices, exercises, or occupational therapy?

●Were there informal things I could do, or things I should avoid, to help calm the tremors?

●Would my symptoms get worse as I aged?

●Were there other specialists I should consult to ensure the best outcomes from my treatment?

The answers to my questions reassured me that my neurologist was on the right track, and we started to construct a battle plan.

TREATMENT

Medications — As we explored the possibility of using various medications, my neurologist explained the potential benefits and side effects of each drug.

Our first try was propranolol. I knew a number of musicians and actors who took beta blockers on an as-needed basis to help steady their hands before performances, so I was hopeful it might be the answer. In my case, however, the drug was only mildly effective, and it left me feeling tired. I stopped it after a year or two because the benefit was moderate at best, and I felt sluggish most of the time.

Next, we tried antiseizure medications. Gabapentin didn't have any side effects, but it also didn't help my tremors. With primidone, the side effects (numbness in the lips and fingers, upset stomach) were far worse than the condition they were meant to mitigate.

When all other medications had failed, my neurologist prescribed clonazepam. We knew there was a risk of physical dependence, so we explored it as a last option. Clonazepam was the first drug to provide significant relief of symptoms. The biggest problem was that it left me sedated; I always felt like my emotions, thoughts, and personality were muted. And then disaster struck: I fell asleep at the wheel of my car.

Thankfully, it was only a minor fender bender, and no one was hurt. My physician had warned me about the potential for somnolence, and I was careful to take only the prescribed amount. I had been on the drug successfully for several months prior to the accident and had never experienced sedation on that scale. But for whatever reason, that day, the drug caught up to me. When I got home, I threw out all the remaining pills. For me, at least, the benefits no longer justified the risk.

Adaptive and alternative interventions — I tried various adaptive devices, including special pens, special cups for drinking, a special mouse designed to help ease the difficulty of using a computer, and wrist weights. Unfortunately, the amplitude of my tremors exceeded any device's ability to counteract them. That even applied to expensive devices that were designed specifically to assist people with tremors.

I also experimented with meditation. It helped me to feel more centered and at peace, but it did little to reduce my tremors.

Acupuncture was next. It had helped a couple of patients with ET whom I knew, so I was hopeful it might work for me, too. I discovered that it eased the chronic neck pain I had been experiencing due to degenerative disc disease, but it had no appreciable impact on my shaking.

Surgery — By the time I reached my early 40s, I had tried and abandoned all measures short of surgery. I was aware that device-assisted or lesioning therapies like deep brain stimulation (DBS) or focused ultrasound (FUS) were available, but I didn't want to pursue that course of action unless I were truly desperate. For me, the point of desperation was when I couldn't feed myself because of the ET.

Because of the risks involved, I opted to hold off as long as possible, but eventually I decided to move forward with DBS because it's reversible. With FUS, brain cells are destroyed, and while I am aware that both procedures have a good track record of reducing tremors, I didn't want to take the risk of having a procedure where the damage to my brain was permanent.

My first step to DBS was to find a neurologist with the right experience who understood my perspective. This took some time. Patients shouldn't be afraid to switch neurologists if they aren't comfortable with the options they are being presented with. I wanted relief of tremor on both sides of the body, so I found a neurologist and neurosurgeon who had experience with the bilateral version of DBS surgery.

Once my care team was in place, we discussed potential risks and benefits of DBS. Although my main goal was to regain function in my arms, I was also hoping for at least some relief from my head tremor. My neurologist made it clear that bilateral DBS would almost certainly bring significant relief of my arm and hand tremors. However, he indicated that while some people experience a lessening of their head tremors after DBS, it's not an expected or typical outcome. We also discussed my claustrophobia, and the team decided that I was a good candidate for the fully anesthetized version of the surgery.

Finally, in September of 2022, I underwent bilateral DBS surgery, and it changed my life. The procedure brought roughly 95 percent relief of my hand tremors and 100 percent relief of my head tremors. Every day I can do things with ease that I couldn't do before or could only do with tremendous physical and emotional exertion and concentration. I'm no longer exhausted at the end of every day, having fought my body for 16 to 18 hours straight.

One word of caution — Five months after the original DBS operation, I unfortunately developed an abscess and wound dehiscence along one of the scar lines. This necessitated an additional surgery for wound debridement and repair. So far, I have not had to have the entire DBS system removed, but this is a risk. Removal would be a huge setback.

While I was given clear and comprehensive instructions on how to care for my incisions, and I followed those instructions to the letter, I still wonder whether I could have avoided this with more careful attention to my incisions.

COMMUNICATION

Overall satisfaction — In the years leading up to deep brain stimulation (DBS) surgery, I was very happy with the treatment I received from the neurologists I consulted. They made me aware of the various treatment options as well as the potential risks and rewards for each. I always felt respected, cared for, and listened to. Throughout my journey with ET, it truly felt like I had a host of physicians who valued my perspective and took my personal circumstances into account as we worked together to try to combat my disorder.

A missing link — If I had one constructive criticism, I would ask that clinicians take a greater interest in the emotional toll that the condition takes. My neurologists concentrated almost exclusively on how to help me find relief from my physical symptoms, but they rarely, if ever, discussed the emotional challenges. I would love to have been provided resources to help, such as the names and numbers of local therapists or psychiatrists.

When I decided I needed extra emotional support, I joined a local support group of tremor sufferers, and I still belong to the group after close to 20 years. The group meets once a month for two hours. The meetings have gone virtual now, and I hope we never go back to in-person meetings, because we have had people join us from four or five different states.

I have received a tremendous amount of emotional support and insight from the group. I've talked to people who understand exactly what I am going through, who can recommend both mental and physical health professionals, who can discuss treatment options, and who can find humor among the challenges.

IMPACT

The physical and emotional toll — My entire life has been affected by ET, sometimes in deeply humiliating and debilitating ways. Things I could do easily when I was younger are either impossible now or can only be done with tremendous exertion.

●Daily tasks that have become incredibly challenging – Brushing; flossing; shaving; clipping my nails; getting an eyelash out of my eye; using the television remote; taking my glasses off and putting them on again; raising a glass of liquid or a forkful of food to my mouth; keyboarding on my computer; texting or swiping screens on my cellphone; lacing my tennis shoes; buttoning and unbuttoning my clothing; attaching the leash to my dog's collar, filling his water dish, scooping out his food, or giving him a pill; opening the mail; unwrapping and putting on a bandage

●Other situations that cause me problems – Going through security checks at the airport; applying for permits or renewals at public offices, when my tremors might be seen as a sign of incompetence; keying in information on credit card machines and gas pumps; filling in the bubbles on my voting ballot; signing my name (especially with a stylus on glass screens that so many merchants use); holding still for radiographs at the dentist's office; eating at restaurants, hotels, or family gatherings (especially when I have to balance my food on a flimsy paper plate and use light plastic silverware to try to get the food to my mouth); giving a urine sample; holding my arm steady for blood draws; playing piano

Each instance separately may be a minor irritant. However, when you add up dozens of those moments every day over a lifetime, it takes a profound toll. I have fought my body for the last 291,200 waking hours of my life.

Unforeseen benefit — While ET has been difficult, it has also shaped who I am today. A student once asked me, "Are you glad you have the disorder?" I answered with an emphatic "Yes!" Despite the frustration, embarrassment, and anger over the years, ET has helped me develop empathy for others, especially those who suffer from chronic conditions. This carries over into the way I treat people in every aspect of my daily life. It has made me a better teacher, friend, and husband.

RESOURCES

Best of the best — The International Essential Tremor Foundation (IETF) is the single greatest resource I have discovered. It is a treasure trove where patients (and physicians) can obtain information about:

●Finding movement disorder doctors in your area

●Locating a local support group

●Understanding the disorder and various treatment options

●Signing up for studies

●Registering for virtual learning events

●Obtaining a medical alert card

●Learning about adaptive devices and therapies

Other sources of information and inspiration — Local support groups are a wonderful resource for people with ET and their care partners. For a personal take on ET, watch Shaky Nan on YouTube and Facebook. To connect with ET sufferers from around the globe, join one of several Facebook groups dedicated to helping those with the disorder.

Advice for those with essential tremor

●Find a movement disorder specialist to manage your ET.

●Stay positive and keep a sense of humor about it all. An optimistic mindset will go a long way toward helping you cope with ET.

●Keep in mind that you are far more aware of your tremors than those around you. People are often surprised when I reveal my condition to them, even though I have a severe case.

●Be open about your condition and ask for help. In my experience, a vast majority of people have responded with tremendous compassion when I shared information about my ET with them. In turn, I am far less anxious and self-conscious when I share my condition with people up front.

●Know your rights. The Americans with Disabilities Act has numerous provisions to protect you, especially related to your employment.

●Explore every possible treatment option. There are many ways of dealing with ET, so keep searching until you find one that works for you.

●Find a support group. You will gain knowledge, strength, and comfort when you gather with people who are going through the same thing you are.

●Join the IETF. Aside from providing a wealth of helpful information, the IETF is on the front lines of research and advocacy for those with ET.

●Be alert to situations and substances that trigger ET and avoid or minimize them.

●Forgive yourself. It's not a sign of weakness to shake, so avoid beating yourself up over the fact that a part of you isn't operating optimally.

●Do your homework, especially if you're contemplating surgery. It will help you feel confident that you have selected the course of action that is right for you.

Final thoughts — A few years ago, I managed to track down both sides of my biological family. One of the driving forces behind my search was the desire to obtain my family history related to ET. I found out that both sides of my biological family tree are filled with tremor sufferers: my mom, aunt, and grandpa on my maternal side, and several siblings, nieces and nephews, and a grandfather on my paternal side. My mom's tremors were so bad that she contemplated suicide. With both sides of my family tree filled with ET and considering that ET can follow an autosomal dominant inheritance pattern, it seems I was predestined for ET.

Apparently, I was meant to move.