Mark your calendar if you are in Vero Beach on Oct. 21, 2017:Essential Tremor Symp Vero
Mark your calendar if you are in Vero Beach on Oct. 21, 2017:Essential Tremor Symp Vero
When we founded HopeNET 5 years ago, we felt that the thing that the ET community needed most at that time was HOPE – hence the name. In the meantime, we have strived hard to bring some hope to all with ET. Accordingly, HopeNET played a key role in having the ET conference at NIH in May 2015. Since that conference, there has been a big increase on the part of industry in developing new treatments for ET. Dr. Dietrich Haubenberger of NIH is probably in the best position to know what is going on with ET. He came to the Falls Church, Virginia ET support group on October 14th and made the attached presentation, Essential Tremor 2016: A look into the pipeline. There has never been a better time than right now for hope – for all of us in the ET community.
This symposium, with the ET support groups in Pennsylvania, Virginia & Maryland, will be held on September 19 from 10am until 12:30pm at Holy Cross Hospital, 1500 Forest Glen Rd., Silver Spring, Md. 20910. The theme of the symposium is Essential Tremor research and how those with it can participate in the trials. The three guest speakers will make a presentation on their respective research as well as answer any questions. There will also be an update on the results of the “Essential Knowledge gaps in the field of ET” Conference that was held at NIH on May 11-12 – as well as what has transpired since.
Information about HopeNET may be found at www.theHopeNET.org. You will need to register by either calling Peter Muller at 703-543-8131 or one of the contact people in each group – Walter Ebmeyer, Doris Mapes, Lisa Gannon, Mary Thomas, Barbara McCarthy or Prudy Bradley. As HopeNET is now doing more, please make a donation by going to our webpage or by mailing a check to 14425 Coachway, Centreville, Va. 20120.
My name is Kelly Naranjo and I am one of the new research associates at Yale University working under Dr. Elan Louis in a new study looking at the genetics of essential tremor in families. I have been reading a bit about your efforts to increase awareness of essential tremor and it is truly remarkable, your open letter in HopeNet is especially moving. I think that for the majority of the population, it is very difficult to understand the underlying effects of any medical condition unless they themselves or a loved one suffers from it. That is why education and information is always so important and I truly applaud all your efforts.
I am reaching out to you today because I wanted to tell you a bit more about our new study. I think you might smile a bit because due in part to advocates like yourself, we have more people interested in funding research and working towards finding more information about essential tremor, its causes and in the future a cure. In the previous study FASET I- family study on essential tremor- the research team also looked at genetic factors and a lot of knowledge was gathered, such as the correlation of ages of onset of tremor in various family members. Unfortunately, because the NIH only funded the project for three years and the budget was limited it was not possible to look at unaffected family members.
I wanted to let you know that FASET II, is currently the largest ever NIH funded grant ever, working with participants suffering from essential tremor. The funding period for FASET II is five years and our budget is a lot more generous. This time around we will be collecting samples for DNA analysis for affected as well as unaffected family members. There have been some proposed affected gene loci and having DNA information for the unaffected family members will confirm if any of the proposed gene clusters is a genetic factor.
I wanted to also add that recruiting participants and their families will be a huge effort and we are asking for your help! As an ET advocate and public speaker, I was wondering if perhaps you could help us connect with your network and people who might be interested in participating in this study? I would love to speak on the phone and tell you a bit more about what exactly we are we doing and if you are interested I can even put together a publication package about the interesting findings from the previous study. Please let me know when would be a good time talk on the phone, or if email is easiest.
My contact information is:
Kelly V. Naranjo, B.A Postgraduate Research Associate
Yale School of Medicine Department of Neurology
Thank you! And I look forward to hearing from you soon.
The June 6th Essential Tremor support group meeting at Holy Cross Hospital in Silver Spring, MD brought together close to 50 members of area Essential Tremor support groups from places like Silver Spring and Columbia, Maryland and Loudoun County and Falls Church, Virginia. There were two speakers preceded by remarks by Peter Muller from HopeNet. Muller informed the audience about what happened last month at a conference HopeNet worked to arrange, held at the National Institute of Neurological Disorders and Stroke (NINDS), a part of NIH. Forty neurologists and ET researchers attended the conference. What they agreed on is that treatment for ET is not possible if they do not know what the condition is. ET presents differently in each person, with varying symptoms such as hand tremors, head tremors, voice tremors, etc., and there can be overlap with other conditions such as Dystonia. These experts decided it would be beneficial to use hand tremors as the focal point to pinpoint what ET is, which suggests there will be upcoming studies.
Moving on, the support group audience was fortunate to hear from Dr. Maguire-Zeiss of Georgetown University’s Department of Neurology who gave a brief overview of the mechanisms in the brain thought to be involved in ET such as the cerebellum, motor cortex and thalamus. There is a question about the role the inferior olive plays as well. Maguire-Zeiss focused on neurons and likened the movement of neurons in the brain to an (electric) circuit and pointed out that if there is a “hiccup in the loop,” that can lead to more body movement (as seen in ET) or less body movement (as seen in Parkinson’s Disease).
Another guest speaker was Dr. T. Sean Vasaitis, Professor of Pharmaceutical Sciences at University of MD, Eastern Shore, who has ET himself and is a practitioner and instructor of the Chen style of Tai Chi. Dr. Vasaitis spoke about body control and elaborated on the benefits of Tai Chi such as reducing stress, releasing tension, improved calm, sleep quality and other cognitive functions. He is exploring the idea of a study on the effects Tai Chi can have on ET patients and speculated that starting out there would be a suggested practice of Tai Chi 2-3 times per week.
HopeNet organized this support group meeting and continues to work toward helping people with ET. Another similar meeting of these support groups is likely to be planned for the fall season, and will again be open to other interested individuals.
Please check www.thehopenet.org for upcoming schedule and registration information.
Silver Spring Support Group Member
* PHOTO BY LISA GANNON
The conference entitled Essential Knowledge Gaps in the field of Essential Tremor was held on May 11-12, 2015. It was broken into 5 sessions – (1) Phenomenology & Phenotypes, (2) What can we learn from available therapies & what do we need to implement clinical trials and advance clinical research in ET, (3) Physiology of Essential Tremor, (4) Pathology, and (5) Genetics.
For each of the above discussion points, an expert in the respective field made a presentation regarding the topic. The discussion was then open to all of the participants. This was followed by a summary of what had been discussed. As one who has Essential Tremor and is not a doctor, I was impressed by how it was conducted and the points that were made.
I am optimistic. There are big challenges ahead – not the least is – we need a better understanding of what Essential Tremor is. The various working groups will now take their respective summaries and put together a more specific plan for moving forward.
NINDS did a good job with the conference. I am confident that they will continue to play a constructive role in ensuring that follow up occurs.
In a little more than a month, NIH will host the Essential Tremor Conference – bringing together experts on ET from across the country as well as some from other parts of the world. In speaking individually with members of HopeNET’s medical advisory board, they are optimistic. The staff from the National Institute of Neurological Disorders & Stroke has done a good job of organizing the conference. They have made an effort to include some researchers that are outside the usual ET research community. They have also made an effort to include younger people. In my conversations with the staff, I get the sense that they want this conference to be a success that ultimately benefits all of us with ET.
HopeNET is playing a role in several different ways in the conference. I will be there attending the sessions. I look forward to sharing with you what I learn. If you have any ideas that you’d like to share with me prior to the conference, please let me know.
The following is an article that was in the Vero Beach 32963 / February 14, 2013 Newsweekly by Siobhan McDonough, Correspondent.
Hector Rocafort remembers the day 15 years ago when his right hand started trembling for no apparent reason and from that point on mealtimes were a disaster. “I couldn’t eat properly,” he said of his efforts to use a fork with his dominant hand. “While eating a salad, a piece of lettuce would fly in one direction, a piece of tomato in the other. I’d be lucky if I could get a cucumber!” the 84-year-old retired police officer said last week at the Essential Tremor Awareness Conference hosted by the Alzheimer & Parkinson Association of Indian River County.
Rocafort was one of 160 people who went to Northern Trust Bank on Thursday to hear doctors detail symptoms,
causes, treatments and research associated with essential tremor, a progressive neurological disorder characterized by uncontrollable shaking of the hands and arms and sometimes other parts of the body including the legs, trunk, head, voice and chin. Some 10 million people in the United States have essential tremor. There is no known cause. Symptoms range from mild to severe and the condition affects mostly older people with symptoms worsening as they age. However, children can also experience essential tremor.
Joan Marie Barringer, a professional counselor, was only five years old when she started to tremor. She would have occasional episodes, especially during gym class when she was tasked to walk on the balance beam. “I was terrified. My whole body would start to shake.” She didn’t know what she had and was unable to supply an educated answer to family members, classmates and others who queried, “Why are you so nervous? Why do you shake so much?” “I felt frustrated and very alone,” said Barringer, who was eventually diagnosed at age 32 and later realized that she wasn’t the lone sufferer of essential tremor.
“It is a big secret for a lot of people,” she told the group, many of whom closely identified with her personal account of “feeling embarrassed and alone.” She encouraged people to attend support groups, to try a holistic mind, body, spirit approach to treatment in addition to a medical one, and to evaluate their diet and exercise.
Dr. Roberta Rose, a neurologist who practices in Vero and Sebastian, also spoke to the audience, offering an overview of essential tremor. While the condition can be debilitating it does not shorten a person’s life span, she said. It also doesn’t mean someone will develop Parkinson’s disease if they have essential tremor, however some research suggests that essential tremor can also occur with other brain and nervous system problems such as dystonia, parkinsonism and certain nerve conditions passed down through families.
There has been no medicine developed specifically to treat essential tremor, she said, however Propranolol, a beta blocker, and Primidone, a drug used to treat seizures, have been widely used and proven effective in some cases. Both drugs can have side effects.
In studies, alcohol and Botox have also shown to be effective in reducing certain tremors in patients. There is no single test to diagnose essential tremor, but a person with frequent tremors should have a thorough physical exam, have blood work done and a family medical history taken.
Rose implored those diagnosed with essential tremor to take things in stride. “If you take the right attitude, anything you are confronting will be easier, and that is as important as any medicine.”
She also discussed deep brain stimulation, a surgery for those with severe tremors that’s done to inactivate the thalamus, a structure deep in the brain that coordinates and controls muscle activity, without purposefully destroying the brain. Experts think that the abnormal brain activity that causes tremor is processed through the thalamus.
With brain stimulation, electrodes are placed in the thalamus during surgery. The electrodes are connected by wires to a type of pacemaker device called an impulse generator that is implanted under the skin of the chest below the collarbone. Once activated, the device sends continuous painless electrical pulses to the thalamus, blocking the impulses that cause tremors.
Patients can externally turn the generator on or off with a special magnet provided to them. Stimulators may last for several years, and the generator replacement procedure is fairly simple.
The stimulation provides moderate relief to about 90 percent of patients with essential tremor, studies show. Still, brain stimulation should only be considered in cases in which tremors significantly impair one’s lifestyle. Rose cautioned that surgery has risks, and the procedure is not for everyone.
However anxiety-stricken Jerry Peterson, 71, of Sebastian, was about having deep brain stimulation in 2009, his tremors had gotten so bad – he had lost his job in retail, and his fine painting skills were greatly diminished – he felt it was time to face his fears in the hopes of a favorable outcome.
And favorable, he got. “It was worth it,” he said after detailing his surgery with others. “It’s changed my whole life.”
Dr. Fatta Nahab, a neurologist in Miami, wound up the conference with details on recent studies on essential tremor, and a status report. The bottom line: Whilst aggressive measures are being taken by researchers to pinpoint causes and origins of essential tremor, it remains largely a mystery.
“Essential tremor is at a very critical time,” he said. “It’s a very difficult time for the field.”
No gene has been identified as associated with essential tremor. There is no known cause. No one knows how to customize treatment for what kind of tremor a person has. There are no medicines developed specifically for essential tremor. There is limited understanding of the causes, brain regions, medications and how the med[icine…]
“There are a lot of unanswered questions,” he said, urging people who are able to, to participate in case studies. “We need your help …… research moves forward, science advances because you all get involved.”
For Rocafort, brain stimulation was a step in the right direction. He has no regrets about his decision to have surgery, so much so that he is considering having another one done to improve his left hand’s functionality.“I feel like a new man,” he said buoyantly of the first go-around. “It’s a wonderful feeling.”
On Monday, December 3, I attended the Congressional Neuroscience Caucus meeting on Capitol Hill, representing Tremor Action Network. The speaker was Ms. Veronika Litinski, the Senior Advisor, Healthcare & Life Sciences, for MaRS, Canada’s leading innovation center.
In speaking about the brain, she said that we know a lot about its parts but little about how it works as a whole or how it unfolds.
The determinants of brain health are:
Studies have shown that there are ways to improve one’s brain
She said that there is a need in healthcare to change confused patients into informed consumers. Mental healthcare is not the same as the rest of healthcare. Consumers struggle with brain-related issues almost silently, sometimes resignation, and a general lack of resolve to do something. Studies have shown that there is a four year delay between the onset of a condition and the time when a person actually gets treatment involving a brain-related condition. It is especially confusing for parents seeking treatment for their children. Other forms of healthcare are less confusing for those seeking treatment.
To help patients be informed consumers, digital healthcare will play an increasingly greater role. Part of this will require more networking between like-minded organizations.
|Embarrassed >||From quiet >||Informed|
|Multiple symptoms||struggle to||Recognize issue|
|Not Urgent||engaged patient||Find clarity|
|It’s normal||Take charge|
People can help themselves in making better decisions, problem solving and inhibitory control – by better understanding how they function, maximizing their abilities and controlling their work and life contexts better. By knowing what part of the day is optimal, a person can schedule their activities accordingly.
Oct 20, 2012 – Fort Belvoir, VA. As the conference title suggests, this gathering was intended to give hope to those with essential tremor (ET), a condition estimated to affect a high number of Americans, approximately 10 million according to recent literature. There are likely many more who do not know they have it perhaps attributing their shaking hands to being nervous. They may attempt to control it and hide it, rather than seek treatment from a neurologist or more specifically a movement disorder specialist.
There were sixty-two in attendance mostly from area ET support groups in Silver Spring and Columbia, MD and Falls Church and Landsdowne, Virginia. The conference speakers were Dr. Codrin Lungu (Deputy Clinical Dir of Clinical Research), who runs the Parkinson’s Clinic and the medical side of the Deep Brain Stimulation (DBS) program at the National Institute of Neurological Disorders & Stroke; Dr. Claudia Testa (Associate Director Clinical Care and Research, Virginia Commonwealth University, Parkinson’s & Movement Disorders Center); and Dr. Mark Hallett (Chief, Motor Control Section, NINDS).
Peter Muller, Executive Director of HopeNET, a foundation working to increase awareness of ET, gave the opening remarks and let us know the latest about a fairly new procedure called MRI Focused Ultrasound. The University of Virginia did a pilot trial in 2011 whereby mri focused ultrasound surgery was performed on fifteen patients and it must have been seen as a success as evidenced by the 6000 on the waiting list for the procedure. Muller expressed excitement for this technology and introduced Jessica Foley, Scientific Director of the Focused Ultrasound Society. He also introduced Deb Zeller, the President of the Virginia School Nurses Association. HopeNET is jointly working with Ms Zeller on a project to develop a Careplan for use by school nurses with children who have ET.
Muller has been instrumental in bringing people with the condition closer to the medical community in a search for treatment, therapies and ultimately a cure, first in his position as a Community Ambassador to the International Essential Tremor Foundation and now for HopeNET. Muller told the group about the series of surveys being conducted by HopeNET and Tremor Action Network to answer questions on the various symptoms and treatments for ET. The last survey in French was sent to 1400 in France, Belgium and Quebec, Canada.
The first speaker, Dr. Lungu, explained in detail the procedure deep brain stimulation (DBS), a surgical option for those with significant tremor that does not respond to medication. DBS was first performed on an ET patient but now is more often used for another more well-known movement disorder, Parkinson’s Disease. DBS is “electrical therapy” for tremor and is like a pacemaker for the brain that intervenes and normalizes the electrical signals thrown off by disease, as Lungu explained it. DBS is brain surgery that involves drilling two holes in the skull the size of a dime and running electrodes to the deep structures of the brain to block the abnormal signals at the thalamus. The wires run from the thalamus (at a point called the vim) down under the skin behind the ear, down the neck and meets a small battery pacemaker in front of the chest from which the voltage and frequency are chosen. Dr. Lungu made it clear that this surgery ‘is the process, not the event,’ as he said one of his colleagues puts it. The event is the 24/7 adjustment of the electrical stimulation from the pacemaker. There are exclusion criteria for DBS – generally healthy candidates should elect this surgery and those without depression because DBS could make it worse. People also need to know what to expect. For example, the problem is still there after DBS, it is just being covered up symptomatically. DBS has its imperfections such as the fact that the motor part of the brain is separated into left brain and right brain meaning that DBS has to be done one side at a time. The dominant side is often the side done. If a person elects to have both sides done Dr. Lungu prefers to do both sides at once rather than one side now and the other side at a later surgery. He went over the risks of the surgery and the side effects, such as very mild verbal fluency issues, and subtle balance issues.
One attendee suggested getting ET listed in items asked about in the National Health Interview Survey that the Nat’l Center for Health Statistics conducts or the Health & Nutrition Examination Survey.
Dr. Testa spoke about clinical research using genetic research to give people a better understanding of the process. Clinical research as a term means working with people to study human disease. There are clinical trials in which a new intervention is tested in people, observational trials where researchers don’t try to intervene but observe only, and then there are trials dealing with parts of people, such as blood and saliva samples to get DNA for those studies. Where do research questions come from? The researchers think about basic biology of the brain and come up with ideas, and there’s community-based research, such as the surveys HopeNET has been conducting. A VCU neuropsychologist is presently doing a needs-based survey for movement disorders that will help determine ideas on ways to proceed. ET affected individuals are encouraged to participate. Understanding disease in people means looking at the mechanisms of how things work, and then the treatments that need to be developed.
An example of traditional research, called epidemiology, studies large groups of people. A famous one is the Framingham, Mass study consisting of the entire town’s population and has been studied for forty years. The resulting information has been used to find risk factors for heart disease and others. There have also been door-to-door surveys for ET (an epidemiologist and neurologist together that examined people on the spot) in places like Turkey and Spain. In those communities four percent of those over 40 years of age were found to have ET. Another example of working with people deals with looking at the brain to understand the mechanisms involved such as imaging, MRIs or functional scans looking at blood flow. Also the brain banks at Columbia University in NY and at the Arizona Study of Aging and Neurodegenerative Disorders, study the brains donated by people with ET. Research papers from these studies have only been coming out in the past few years. VCU, where Testa works, houses the MidAtlantic Twin Registry, “an amazing resource,” she says in her genetic studies and how they play a role in ET.
Testa explained, “We don’t know of a single gene mutation that causes ET.” A lot of research has been done on the connection between a change in the gene and disease. She spoke about establishing linkages across families using DNA. She explained how the Lingo-1 gene discovered to play a role in ET, does not make protein which implies it doesn’t code (for protein) so there is more work to do to discover details about that interon area – without proteins it is more difficult to study. Testa explained the genome and the detailed clues it might hold.
Our next speaker was Dr. Mark Hallett started his talk by emphasizing people’s participation in research studies since there haven’t been many good animal models. He said trying to address the basic pathophysiology or cause of ET is necessary if a rational treatment is to be created. We still don’t understand where ET comes from so genetics is an important area to study. Hallett is of the opinion that ET is not a single entity but multiple different entities, meaning a family of diseases, which may be why it’s been difficult to find a single gene that is underlying it. Hallett explained there may be different types of ET, meaning different pathophysiologies and different therapies. In other words, ET may look the same in two different people on the outside but be different on the inside. When it comes to ET responsiveness to alcoholic beverages, some people respond with a reduction of tremor and others do not – which may be an indicator of ET subtypes. Hallett asked for a show of hands about people’s responsiveness to alcoholic drinks, in that they show an improvement in tremor when drinking alcohol. The majority of the audience raised their hands. Alcohol also can have a rebound effect, he said, whereby once it wears off the tremor returns worse, temporarily.
The Movement Disorder Society is the international society of mostly neurologists, and it has taskforces looking into different types of tremor. Hallett is on a taskforce to come up with better definitions of ET and differentiate its subtypes. Hallett went over the few drugs on the market that help ET. Primidone and beta blockers are the two most common. Sometimes they work for a while and wear off. Some anticonvulsant medicines have benefit: gabapentin, topiramate and others. He said that there is not much work going on in the active development of other drugs for ET. Before he came to the conference today he checked the clinicaltrials.gov website to see what clinical research is being done in the world, and at the moment there are zero – as in no clinical trials being done in the area of ET research. The pipeline needs to be stimulated in this regard.
He gave us the alcohol or octanol story to give a sense of what the process of drug development is like at the NIH. He cited Rodolfo Llinas, a neuroscientist who studied longer chain alcohols and patented them all – saying they would be good for treating any tremor. Octanol worked better in the animal studies than ethanol did. Octanol (an 8 carbon atom) was found to be one of the best longer chain alcohols for the condition and through studies at the NIH they realized that the octanol is metabolized or broken down in the blood into octanoic acid. How many carbons is best is the question. These studies on octanol and octanoic acid at NIH have taken about 10 years to complete. NIH received a “use patent” to support development. With a pharmaceutical company, NIH started the clinical trial process. Hallett went on to explain that the cost to do an animal toxicology test and to safely try it in humans runs approximately one million dollars. It is difficult to develop a pharmaceutical. The conclusions show that octanol was efficacious to a certain extent, without people getting drunk. At a minimum, it will take several more years for the FDA to approve octanoic acid as a drug. Octanoic acid is a component of the ketogenic diet, a special diet mostly consisting of fat given to children with very severe epilepsy. Someone discovered this diet could help and it’s been used for years. A challenge is how to administer it. It tastes terrible so time needs to be spent encapsulating it. One attendee mentioned to Dr. Hallett that long periods of fasting has helped improve his tremor. Hallett explained that when you fast, your body’s metabolism changes more toward energy from ketones than from sugars. You are converting your body metabolism to a state similar to someone on a ketogenic diet.
Hallett suggested that the alcohol interfering with the calcium channel story may not be right for explaining ET and that maybe a GABA abnormality is a better model for ET than the harmaline animal study model. Another clinical trial from France involves transcranial magnetic stimulation (TMS), external stimulation over the cerebellum that reduced the severity of tremor for a period of time. TMS was given daily for 5 days and the efficacy was for 3 months. TMS has been approved for one type of depression, refractory depression.
Questions were asked of the 3 doctors at the end of the conference. Hallett talked about how relaxation and reducing anxiety and stress help to improve tremor. The hormone, cortisol, in the body is released in response to anxiety and stress and causes the brain to shrink! Dr. Testa talked about observations of the community – the changes in anxiety for people with ET as compared with those without it. There’s a powerful pathway between the unconscious mind and mood states as well as really strong symptoms in the body. Dr. Testa suggested that maybe ET patients experience more anxiety symptoms as a result of the ET. Dr. Lungu concurred that it’s unclear whether the anxiety is part of the biological condition of the disease. Dr. Hallett was asked if there is a connection between epilepsy and ET. He responded that the pathophysiology of epilepsy is well-known. Nothing at any level, at the cellular level, at the thalamus, through EEG or neuroimaging shows a connection. In answer to the question why do the anticonvulsants like primidone, gabapentin and others work for ET, Dr Hallett said these drugs all have multiple effects but we do not know how. Dr. Hallett believes that since the prevalence of ET is high, he thinks pharmaceutical companies should be more interested in developing drugs for it. Dr. Testa said the epidemiology studies indicate age of onset is in general in older adults. Hallett said that patients can help by going to their congressman to say ET is an important concern, and there are a lot of us with the condition. Joan Marie Barringer, the Support Group Leader from Vero Beach, Florida brought up the DSM Diagnostic Statistic Manual that says many of those with tremor have social phobia.
Conference attendees were pleased with the cooperation of the local medical community at places like NIH and VCU in communicating their expertise, thoughts and findings to the ET community.
Silver Spring Support Group