Tourette Syndrome. Will There Ever Be A Cure?

Tourette Syndrome is a very complicated condition that has baffled scientists and medical doctors for years. It is now widely understood that individuals with Tourette's have a defect in Dopamine Signaling related to a below normal density of neurons in the Striatum, and a high density of neurons in the internal segments of the Globus Pallidus within the Basal Ganglia of the brain. The Basal Ganglia serves as a "filtering" mechanism in a normal brain, with the purpose of preventing unwanted thoughts from being vocalized. This may explain why individuals suffering with TS experience Corprolalia, as they have a defect in this highly sophisticated mechanism. A further advance was made in the understanding of Tourette's in 2005, when a geneticist at the Yale School of Medicine identified a defective gene in a group of Tourette sufferers. This gene, identified as SLITRK1, was found to be mutated in this group of study patients in their Basal Ganglia, Cortex, and Frontal Lobes. This was the first significant advance in Tourette's Research in decades; however, it provided no real value for improved treatment regimens or a means for a cure. Current treatment options for Tourette Syndrome focus on Dopamine Mechanisms such as the interaction between Dopamine and Glutamate, Dopamine and Serotonin, and Dopamine and GABA (Gamma-Aminobutyric Acid). Drugs that play a role in the inhibitory mechanism include, but are not limited to Haldol, Orap, Seroquel, Zyprexa, Geodon, and Abilify just to name a few. I have visited these drugs and many others on multiple occasions, only to find that their adverse reactions far outweigh any therapeutic benefits. This group of drugs can cause fatal complications as well, including Tardive Dyskinesia and Neuroleptic Malignant Syndrome. The failure of any pharmacologic agent to ease my symptoms is what prompted me to not only seek out, but undergo Bilateral Deep Brain Stimulation in May 2006. As previous followers of my Blog are aware, this highly invasive surgical procedure did nothing to treat my extreme case of Tourette's. This brings me to the focus of my article, will there ever be a legitimate treatment or even cure for Tourette Syndrome? The answer to this question is quite bleak, and for many reasons. In order to find a viable treatment much less a cure, scientists must develop an animal model for this condition. Only then will they be able to perform the level of research that would be too dangerous for human subjects to endure. Researchers have developed animal models for other neurologic conditions such as Parkinson's Disease, by injecting the brains of rats with noxious compounds such as Paraquat and Rotenone, but the science of generating such a model for TS is beyond the scope of current medical technology. Even if a compound was discovered that mimicked Tourette's in animals, scientists would not be able to prove that they developed a true "Tourette Model". This is due in part to the complexity of Tourette Syndrome and the degree of variability between TS patients. How would anyone really know if an animal had Tourette's in the lab, when animals lack the cognition of a human being? The final obstacle to Tourette research is the difficulty of enrolling large groups of individuals with TS for clinical trials to assess therapy options, as well as a lack of post-mortem brain tissue of individuals affected with this disorder. In summary, the best means for supporting research and understanding for Tourette Syndrome is as follows:
1.) Support education in your local community for this misunderstood condition.
2.) Join the Tourette Syndrome Association (http://tsa-usa.org/) and support them with donations or volunteer work.
3.) Encourage anyone you know with TS to register for brain tissue donation upon their death to: http://www.tsa-usa.org/news/BrainBank0806.htm.
4.) Show individuals with TS that they are accepted.
These are just a few ideas for easing the suffering of Tourette Syndrome for generations to come. I would personally do anything that would prevent TS affecting another individual in the manner I have been affected.

God's Creatures

I would like to share an experience that would forever change the way that I view the world. Several weeks ago while sitting on my front porch, something "caught my eye". It was a Deer Fawn covered in spots, innocently feeding on vegetation near the edge of a heavily forested area. I excitedly ran into the house to grab my camera, all the while expecting the Fawn to be gone before I could do so. Much to my surprise the Deer was still feeding when I returned, unaware of my presence. I began to approach the Deer hoping to get a close-up of his beauty, but I expected him to "bolt" at any time considering that my Tourette's always precedes me. Despite my loud vocalizations and abrupt tics; however, the Fawn seemed unconcerned. When I was at an appropriate distance to begin photographing the deer, an unexpected chain of events rapidly unfolded. The Fawn began to run towards me as would a dog, with a series of expressions and posturing that conveyed the message: Who and what are you? Are you friend or foe? I stood my ground even though my Tourette's did not, and began to ready my camera for a once in a life time photograph. The Deer; however, had different intentions. He continued towards me until he was about a foot away, and I presented my hand in a palms up position to show him that I meant no harm. I was shocked when the Deer reached forward and gently licked my hand. By this time my Tourette's was wildly out of control, but I managed to compose myself long enough to get a series of close range photographs. Within seconds; however, I vocalized so loudly that the Deer headed for cover. I returned to my house to "show off" the pictures to my wife, and was grateful that I had the photographic evidence to document the encounter, because without it the story would have been impossible to prove. I have thought about this experience for quite some time, but it wasn't until recently that I began to understand the real meaning of the close encounter.

When faced with an individual having Tourette Syndrome, many will say they are afraid of what they don't understand. I have had multiple encounters in my lifetime with people that refuse to be my friend because of preconceived notions regarding my TS related Corprolalia. To quote the highly regarded expert on Tourette Syndrome; Dr. Oliver Sacks: "I have never met a person with Tourette Syndrome that I didn't like". People with this terribly misunderstood illness are very likeable individuals, and many have missed out on the opportunity to experience a quality friendship like someone with TS could have provided. Humans have the tendency to shun anyone that is labeled as being "different", and this is a very unfortunate shortcoming. We all have a lot that we could learn from observing God's Creatures outside of our genus. It clearly states in the Bible that God created animals to serve mankind, but I believe they fulfill an even higher purpose. To illustrate this point, consider my encounter with the Fawn. Deer are born with an uncanny ability to recognize danger using their incredible senses of sight, smell, and hearing. Even though the Fawn, whom I have since affectionately named "Frank", recognized that I could have been danger, he objectively approached me even as I was making loud noises and sharp movements. He put all this aside and attempted to look beyond the confusion to determine who and what I was, and as a result, realized that I posed him no harm and actually I was a friend. If humans could be more like animals, the world would be a much better place to live. It is very ironic that Frank did not understand what I was or why I was making loud noises, but he did not let that get in the way of our brief encounter. The next time you see an animal consider that hatred and bigotry does not exist in their kingdom, so why does it exist in ours? If we modeled our world after theirs, we would all make great strides in understanding people that are different from the "norm". This is the real reason that God put animals on our planet. God has never been unhappy with the animal kingdom, but he has been very unhappy with the human race. The next time you encounter someone with a disability such as Tourette Syndrome, try to look beyond the affliction and get to know the real person. You will be glad that you did.

Tourette Syndrome and Deep Brain Stimulation Part 2- When is Enough Enough?

For followers and readers of my Blog it is "old news" that I had a procedure called Deep Brain Stimulation (DBS) in an attempt to alleviate some of my Tourette Symptoms. On January 18th of this year I had a follow-up appointment with my Neurosurgeon to discuss my progress with this experimental treatment. During the visit I expressed my frustration with DBS and its' failure to lessen my Tourette's most outward signs, the worst of which is the utterance of profane and often racial remarks (Corprolalia). During the appointment my physician and I were engaged in conversation regarding the placement of the electrodes deep within my brains delicate structures, and I mentioned to him an event that occured during the original surgical intervention that has left me wondering: what if things had transpired differently? What if my electrodes were in a slightly different location than they currently are in? These questions stem from an incident which I vividly recall when the electrodes were being inserted in the operating room, as I lyed there wide awake with no sedation or analgesia, my head screwed to a frame and the frame bolted to the operating table. My tics were so bad at this time that you could visibly see the table shaking, and the vocalizations were so loud that I wondered if I was compromising the surgeons concentration. As the drilling of my skull was finalized, and the right electrode was about to be inserted in the burrhole, I remembered my previous pre-op discussions with the doctor regarding the placement of the wire.

Preparing for electrode insertion

          Before the procedure he explained to me that the electrode would be slowly advanced into my brain until a  pre-determined "target" area was reached (this area was identified by a pre-op CT Scan and MRI, after which the test results were merged using a powerful computer program, and the area was identified and marked on the head frame that rendered me motionless). The doctor also explained to me that this "target" was no bigger than a small grain of rice, and its' location was paramount to me seeing any potential positive outcome from the surgical procedure. Upon inserting the right electrode into the aforementioned burrhole, I can distinctly remember my Neurosurgeon counting down the electrode's course through my brain; "6mm to desired target, 5mm to desired target", and so on. I can remember holding my breath with all the excitement of a child on Christmas Eve, and when he announced "target reached", I burst into tears and my tics and vocalizations immediately ceased. I looked around the operating room in disbelief as the nurses, doctors and technicians breathed a sigh of relief. No sooner than this had occurred,  I began sobbing uncontrollably and my vital signs took a turn for the worse. I can remember one nurse saying "he's not looking good", and another one said "his blood pressure isn't fairing well". What was happening to me, I thought? I have no Tourette Symptoms and everyone is overacting. My surgeon spoke to me; "Your lead (electrode) is in too far". "We are going to withdraw it 1mm because it is apparently in an area that is not safe, and monitor your vital signs very closely". By the time he said this the electrode was repositioned, my crying stopped, and my tics and vocalizations returned with full recourse. Also at this time my vital signs began to stabilize, and my Neurosurgeon said that he would leave the electrode in its' current position even though this would abandon the predetermined target, and that is where it remains today.

           This is where my doctor and I's conversation continues at the January 18th appointment. I disscussed with him  the possibility of undergoing surgery again in order to advance the electrode 1mm to the original target; and keeping an open mind as he always does, he said he would thoroughly revisit my medical records and see if this was a possibility. I told him that I firmly believe the original target was the appropriate location, and what he had assumed was a bad placement because of my emotional changes, were actually my tears of joy from the weight of  living with Tourette Syndrome for 40 years suddenly being lifted from my shoulders. He explained the risks of performing the surgery again compared with the potential rewards, and said that he would get back with me in a short time with his opinion regarding such. That leaves my wife and I with some difficult decisions to make. Should I repeat the surgery even though the potential risks outweigh the possible benefits? Or should I just abandon this idea alltogether and live with the uncertainty of always wondering what if? Whatever decision we make; however, I will have to deal with for the rest of my life. I know that through prayer the right answer will be revealed to me, and if enough is enough that is good enough for me.