Huntington's Disease



these are the many faces of Huntington's disease a rare inherited neurological disorder that affects movement cognition and behavior so what exactly is Huntington's disease and what is on the horizon these are just a few of the questions we'll ask this morning i'm ereka vetrini join us for this very special program as access health goes behind the mystery with an in-depth look at Huntington's disease otherwise referred to as HD it's certainly the thing that gives me up every day the thing out of the most passion for us take care of these patients mentally and physically you know just like a whole world where I'm at now I won't slip on you further this is a disease that has been called the most disastrous disease known to man the cycle of despair goes from one generation to the next and there's no way really to stop it there was just little Sons there that I knew something wasn't right had no idea what it could be but I knew something wasn't right and I'm very hopeful that in the near future it is likely that we'll find some way to modify the course of the illness dr. michael hayden is a world renowned expert on Huntington's disease and genetic research much of his career has been spent seeking to understand HD its origins and its patients I'm trained as a geneticist and an internist specializing in neurology and have been committed my whole life to making some impact in changing the course of illness for patients with severe neurological diseases the good news today is that there are ways for us to think about ways to understand the disease to develop new medications to stop but potentially stop the course of the illness we know more about the pathways now than we've ever known and it is good news because pharmaceutical companies are now invested in Huntington disease dr. Victor Seung currently serves as the director of Huntington's disease center of excellence at the University of Alabama in Birmingham today we'll hear from both doctors as they share with us their expertise insights into patients care and deep understanding of this incurable complex disease and the families affected by it dr. song explained some of the basics for us the simplest definition of Huntington's disease is that it's a purely genetic neurodegenerative disorder to unpack those words purely genetic means if you inherit the gene you will get the disease if you don't have the gene you won't get the disease so it's caused by a gene mutation and then degenerative disorder in that it causes breakdown or change in the brain over time and the symptoms that you get come from the brain you know being damaged slowly over time it's a slowly progressing disease it's not something you know that is rapidly fatal like certain infections or certain cancers or something like that the average time from diagnosis to death from the disease is in the twenty to thirty year range Huntington captures it all because it has mental illness it has movement disorder it has depression and there's been until now very little hope that you can change the illness but I always believed as a scientist as a physician and an optimist that there's much we can do it is considered to be the second most common of the genetic disorders and is passed down sometimes through many generations of a family it's ruthless in its disregard for gender so it can be passed from a woman or a man to a child is a girl or a boy and each child of an affected parent has a one in two chance of having the sameness 50% typical symptoms are what we call the HD triad so there the motor or the cognitive and the behavioral symptoms early symptoms of Huntington's disease most commonly would be some mild Korea or some mild depression anxiety some mild forgetfulness we should approach all three of those key areas as there's something that we can do for them and certainly we should address all of them most people who affected with Huntington's have onset in their 40s but in fact the age then is extremely variable you can have on sit as a children about 10 to 15 percent of people have onset less than the age of 20 and now we sing more and more people as we living longer we sing more more people having onset in their 70s and 80s and 90s and I've just seen some patients who have wanted over a hundred for my patients that are presenting between 30 and 45 often they're fairly mild many of those patients are still working and they you know they have some combination of some motor symptoms like Korea some behavioral symptoms like depression anxiety or some anger outburst something like that and milder cognitive symptoms a little bit of forgetfulness and I really are focused since many of those patients are still working is trying to keep them working for as long as they can we know that the age of onset is determined by the severity of the mutation if you have a mild mutation you'll have much later onset if you have a mutation in the middle range you have onset in your 40s if you have a severe mutation you have onset less than the age of 20 so staging for HD we actually define by how much functional limitation there if any so in the mildest stage of Huntington's disease those patients will still be working still able to handle money still able to do chores certainly still able to address themselves feed themselves and do all the basic care needs in moderate HD then you're starting to see some impairments functionally and usually that's going to be impairment at work often leading to not able to work or disabled from working some impairments in financial accounting those kinds of things maybe some impairment and chores things like that but still usually preserved basic function like bathing dressing from a treatment standpoint we would all love to say that you know we improve quality of life and treat their symptoms so well that they never reach the late stages of HD the reality is that many patients still will reach late stage HD and that's going to exceed the caregivers ability to take care of them on their own at home so late stage HD is often the time when patients will be transitioned to a long-term care facility movement symptoms in HD as they worsen can cause significant functional impact on their lives of the patients and their families we'll take a closer look at that when we return register in HD motor symptoms calm to be among the first to receive educational materials and resources welcome back to this special edition of access health today we're getting a closer look at the hereditary and progressive brain disorder Huntington's disease before the break we were discussing symptoms of this devastating illness and how the disease affects the mind emotions and body one symptom in particular has always been a signature movement disorder in HD here's more from our experts one of the most common symptoms of Huntington's disease is Korea and in fact some people refer to the disease instead of Huntington's disease they may say Huntington's chorea Korea the term comes from an old Latin word that means dance so some people describe it as kind of a dance like movement but it's really kind of an involuntary jerky movement that can involve any part of the body from the head to the toes what's interesting when patients sleep the career goes completely away so something happens during sleep that suppresses all the abnormal movements it interferes with function patients can't do up there buttons can't do up their shirt can't do up their shoelace they walk they fall they hurt themselves it's it's quite incapacitating Korea while it's the most common of the symptoms overall and certainly in the most common of all the motor symptoms there are many other motor symptoms as well other motor symptoms of Huntington's disease besides the Korea would include impairment of eye movements impairment of speech impairment of swallowing impairment of gait and balance today's story comes from rural Alabama Mike and Myra Smith have been married for 44 years Mike's diagnosis came in his early 60s just a few years ago he didn't know it ran in the family my name is Myra Smith we live in heartful Alabama we have two sons Chad he is 39 be 40 this year and Ben is 35 Mike Smith and 65 years old working on 66 the Jim Dandy pet food company was being built in town so I've been there for almost 40 years I was there our mental and Safety Officer manager so I handle all the safety and then the environmental programs in the site and we had a good tight ship the first thing I noticed I guess related now to Huntington's was movement in his feet we would be sitting together on the couch and he'd have his feet up against knee and his toes would be constantly moving I was like stop it please stop that I couldn't stop it and I mentioned him going to the doctor but he didn't think it was a problem so time went on and then I noticed when he would set like over in the recliner constantly moving he he was beginning to move a lot more and more all over not just his feet the most outwardly visible symptom is the curia so many mild patients they just have the Korea and they don't really don't have much of the other cognitive or behavioral symptoms so that is one way that patients present they have this Korea it may or may not be that bothersome to them but somebody has noticed that some of the families noticed it or their GP is noticed it or something like that and they'll initiate the referral about two years ago it you know the movement always started and disorder started going and just where I was unconsciously just you know wasn't hurt me but it was I was fidgeting I was moving and like I said it doesn't hurt you but everybody else watching you just worried you know house finally said well no I didn't my wife reminded me that would probably need to look into it and that's when I started looking I also noticed him walking through the house he began to walk differently than he used to his gait was different he was stiffer you know there was just little Sons there that I knew something wasn't right irregular uncontrolled movements if you have a little jerk like that in the leg or in the foot it can disrupt walking fairly simply you know I think if you think about a baby that's trying to learn how to walk how much it really takes for them to walk consistently without falling you really need very smooth very consistent movement of the legs that is not interrupted and very coordinated in order to walk well without falling so it really doesn't take much of a disruption to disturb walking and which can lead to stumbling or ordinaire falling or fallings what led it all to me looking further was we were traveling to a football game of that band was in coaching and I remember you know and I was just real agitated and you know Myra really didn't say it didn't take much to set me off but I was really feel verbally very abusive to her I mean and really and she didn't deserve that I used to be better than this you know I didn't grow up that way going and doing as much as we were and working full time you know that was stressful it was a stressful time but still some of his actions were not characteristic of him some of his outburst was not characteristic and he did see his MD for some of the emotional and he put him on an antidepressant well that that helped for a while but then it began to build up again and and that was about the time that he was diagnosed with the Huntington's and we began to put the whole story together job I had was pre task oriented and I couldn't even do a lot of the tasks involved anymore at the end I was you know doing just doing an email expressing myself and an email took me you know three hours to come up with you know what could ride out Tyrell and make sense so and that's you know that's discouraging that's disheartening just may not being able to do a job my job like I should you know that it's not me and so I didn't feel like I felt like I need to turn it over somebody else as his job was getting harder for him to do I think the emotions were getting worse you know because of the frustration his doctor at that time said maybe it's time to see a neurologist I think I see a little more than I did the last time so we talked about it and decided that that's what we needed to do not just stop here see if there's anything else out there get another opinion the doctor in Decatur said I think it's Huntington's and so a genetic test would have to be performed to confirm it or not we confirm the diagnosis of Huntington's disease with a gene test which is as simple as one tube of blood drawn out of your arm now I probably did not do as much internet research as I would have had I had more time you know I did try to find out what I could and be proactive and you know questions to ask the doctor when we went but there's not a lot out there for Huntington's and what we were reading there's not much you can do while there's no cure for Huntington's disease efforts to improve the lives of its patients suffering from this unforgiving illness as well as efforts to find a cure never stop I really don't look at the diagnosis of Huntington's disease as a death sentence register in HD motor symptoms come to be among the first to receive educational materials and resources welcome back to this special edition of access health people battling the incurable rare and genetic illness Huntington's disease and their families having to cope with so many challenges on so many fronts but that doesn't deter them or the medical community from staying on path with hope for what tomorrow holds and in the absence of a cure the goals are clear to help patients maintain a sense of independence while helping them to maintain and improve their quality of life I've known Mike and Myra and their treating physician for about three or four years now I think Mike is the classic for late onset very mild dose of the HD gene mutation he has a mild mutation so he's had onset much later in life you know it was a relief to know that there was a diagnosis for for what he was dealing with emotionally and physically and I think that just knowing that helped so a big part of my clinical endeavors are clinically treating Huntington's disease patients and then participating in clinical trials for Huntington's disease going to dr. Tsung he started talking to us about the clinical trial and we were very interested in that he passed protocol for it and we started on that nobody could actually say yes he has a drug they didn't know because it was a blind study I could see a difference in his movements and he just wasn't moving as much started through the treatment it did help me so I was able to continue my job to handle it over I think it's for the new meds I don't think that I wouldn't be able to do that there are a lot of things that we can do to treat the symptoms and stay on top of it and I think when patients come in early and are motivated and aggressive I'll be as aggressive as the patient the family wants to be in staying on top of the treatments both pharmacologic and nonpharmacologic to try to preserve quality of life as long as right now that's the biggest part of I think my caregiving is just watching him watching out for him and making sure that he has what he needs during the day to eat and making sure when I get home that he has eaten and asking him from time to time have you had your medicine which he's been very good about but you know what when is that gonna change well I won't be on top of that I want to know the first time he forgets to take his medicine I want to know the first time he falls he trips for no reason you know and fortunately we haven't had that but I'm ever watchful if I'm 65 years old still this healthy and a to be outgoing and be able to do the things I'm doing I'm blessed registered HD motor symptoms calm to be among the first to receive educational materials and resources we want to thank everyone who participated in this story so incredibly revealing and inspirational there is indeed so much hope for what the future holds and for more information on Huntington's disease head to HDS a org and of course you can always log on to our website at access health TV no unifier first one from HP in 2004 my sister miss in the leasing of easier this use the word Suzie thank you pastor having you see it's taking everything from love to no longer what are your work yeah he lost the ability to hold my son there's no cure no but there's hope in the rebel against HD no one face on you

7 comments

  1. my husbands father took his own life due to this disease. His grandmother also had it. I believe he was about 40 something. How does one find out if they will get it in the future? I'm very nervous for my husband. He does not show any signs. He is a computer programmer and so amazingly intelligent. I just want to be as educated as possible when it comes to this subject. thanks for this…

  2. My girlfriend has Huntington illness. here recently she is acting a little more emotional. constant arguing. her speech is getting a little worst. I really dont know how to go about it. i need some help in how to help her in this time. If anybody can give me tips you can call or text : (479) 276- 2547 Jaime Mendoza

  3. Science has come a long way in helping people with movement disorders….it's about quality of life….we know how bad HD can get in Late Stages….this gives me some hope for the future kids with this gene…..great job, maybe some families will reconsider asking for help now…it's not like it used to be!

  4. It is informative for the general public, most who don't know about HD…this is great to get awareness out to the community

  5. Slightly educational, but in my opinion, a VERY, VERY poor picture of the real HD. This honestly makes it looks like peaches and cream.

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