Introductory Guide to Huntington’s Disease
If you are searching the subject of Huntington’s Disease, it is likely that you have recently become aware of a family member having been diagnosed. This disease is commonly referred to as a family disease and very few people know of the disease for that reason.
Once the disease is found in a family, it will follow that family line until someone along that line receives a negative genetic test. Each person born to someone with Huntington’s Disease has a fifty percent chance of inheriting the gene and its mutation. The approximate number of Americans currently affected by Huntington’s Disease has now reached a staggering 30,000, giving us an at risk number of 200,000 Americans.
What Is Huntington’s Disease?
Huntington’s Disease is genetic and directly affects a person’s brain and nervous system progressively breaking down the nerve cells in the brain. It is a slow deterioration of a person’s mental and physical abilities usually during the prime of their lives.
This disease causes uncontrolled movements, emotional problems and a loss of thinking. Huntington’s Disease has no cure and is unfortunately fatal. There are supplements that you can take that can ease symptoms and new research is being conducted all of the time. Staying informed of modern breakthroughs and understanding what you can do to take charge of your health while facing this deadly condition, is the first step to staying informed and living a more fuller life with Huntington's Disease.
Types of Huntington’s Disease
While Huntington’s Disease usually strikes during the prime of one’s life, 10% of the reported cases of Huntington’s Disease are juvenile. So while most cases will occur during a person’s thirties, there are many cases of children as young as the age of two being diagnosed with Huntington’s Disease.
Adult-onset Huntington’s Disease is the most common form of this disorder, onset usually occurs during a person’s thirties or forties. Early indication of symptoms can include depression, irritability, poor coordination, trouble learning new information, compromised decision making and small involuntary movements.
Several of those suffering from Huntington’s Disease develop Chorea, or involuntary twitching and jerking movements that can become more pronounced as the disease progresses. Individuals affected by Huntington’s Disease may have trouble with speaking, walking, talking and swallowing.
The life expectancy of a person with adult onset Huntington’s DIsease is usually between 15 and 20 years from the time symptoms began.
Approximately 10% of the reported cases of Huntington’s Disease are Juvenile Huntington’s Disease and affect the children and adolescents of parents with Huntington’s Disease. Onset may start as early as age two or can begin when the child is in his/her teen years.
The symptoms of juvenile onset differ slightly from the adults. Aside from the normal symptoms of Huntington’s Disease that are also apparent in adult onset cases, children’s symptoms can include:
- A stiff and awkward gait
- An increase in the child’s ability to speak and skills that had previously been mastered are lost
- Progression of the disease is more rapid, causing an increased progression rate of the disease
Life expectancy of a child with Juvenile Huntington’s Disease is usually ten years from the time symptoms began.
A Breakdown of Symptoms of Huntington’s Disease
Many families affected by Huntington’s Disease have described the symptoms that they see in their family member come across much like the person is suffering the effects of Alzheimer’s, ALS and Parkinson’s all at the same time.
Symptoms appear at the time of onset which in most cases happens in the “prime” of a person’s life usually occurring in the early to mid thirties. Although symptoms have been known to not appear until as late as seventy. Once the symptoms begin they will worsen progressively and usually presents in a slide and hold pattern. An affected person may have the same symptoms with no worsening for several years and then suddenly a “slide” will occur and the symptoms can worsen drastically.
This slow deterioration of the brain and body can take anywhere from ten to twenty-five years. Ultimately the affected person succumbs to a “complication” of Huntington’s Disease such as pneumonia or heart failure, not to the Disease itself.
Symptoms can include:
- Depression and/or anxiety
- Mood Swings and/or Changes in Personality
- Impaired Judgement
- Forgetfulness and memory loss
- Unbalanced and unsteady gait
- Involuntary Movements (Chorea)
- Significant weight loss
- Speech Impairment
- Difficulty Sleeping
- Difficulty Swallowing
Stages of Huntington’s Disease
Although each person’s experience with the Disease is individual even within a family where several siblings are affected, the Disease can be broken down into three stages.
In the early stages of the Disease one will experience changes in mood, irritability, depression and slight changes in coordination and balance. Things that had previously “come easy” to an affected person are no longer attainable. Thinking through a simple problem or writing a check can become arduous tasks. A few involuntary movements may begin, the start of the chorea. The ability to function as they had both at home and at work will be affected. Medications are very helpful in dealing with the individual symptoms such as the depression and other emotional problems that some along with the Disease like anxiety.
In the middle stages of the Disease working will no longer be a viable option. The small involuntary movements can become much worse and more pronounced requiring more medications to be prescribed specific to the movements or Chorea.
Occupational and physical therapists can be utilized to assist in the controlling of the voluntary movements attempted by the person affected as they will no longer be second nature. The ability to speak or “find words” will be greatly diminished and swallowing will become a problem. Normal day to day activities will be become harder to accomplish.
In the late stages of the Disease the affected person is completely dependent upon his/her caregivers. In some case the Chorea can become very severe or the affected person may “petrify” or become very rigid and the movements stop. At this stage most affected persons are no longer able to speak or walk and choking become a major concern.
While the body of the affected person is completely incapacitated, the mind is completely aware of its surrounds and the is able comprehend speech and is aware of family and friends. The death of a person affected by the Disease is in most cases caused by a complication such as choking or pneumonia and not caused by the Disease itself.
Life Expectancy for someone with Huntington’s Disease
Unfortunately, there is not set line. It does appear that those that keep their minds stimulated and exercise regularly seem to have less severe symptoms and are able to have a longer life expectancy than those that do not. Commonly, once a diagnosis of Huntington’s Disease is obtained a person can live with the Disease for ten to thirty years or more.
The Scope of Huntington’s Disease
Currently over 30,000 Americans are diagnosed with Huntington’s Disease. However, the effects of the Disease are touching more than 200,000 lives. Within each family several generations may have inherited the disease making them “at risk”.
Those “At Risk” for the Disease suffer extreme stress not only caused by the uncertainty regarding their own fate but from the responsibility of caring for their affected family member. Unfortunately a lack of knowledge of the Disease by society may cause further stress and anxiety for all family members as neighbors and friends of the affected person may no longer offer support once a person becomes symptomatic.
Huntington’s Disease is an equal opportunity Disease, the gene is “autosomal dominant” which means that gender does not matter and it affects all races and ethnicities.
Who is At Risk for Huntington’s Disease
Every child of a person affected by Huntington’s Disease has a fifty percent chance of inheriting the gene that cause the Disease. If that child tests negative that child is no longer at risk for the Disease and will not be able to pass the gene to their children. Once a negative test result is obtained the Disease will stop within that child’s line.
Being At Risk can be tremendously stressful as the person is likely caring for someone who is suffering the effects of the disease. In that care the person At Risk can begin to see symptoms in themselves. Simple things like dropping a piece of silverware or forgetting someone’s name suddenly become certain proof that the symptoms have begun for them. Most times the “symptom” is really just a normal reaction to the stress of caring for a dying loved one, but that logic can be difficult to see when At Risk. Many affected by the Disease refer to this as “symptom seeking”.
Testing for the Huntington’s Disease Gene
Choosing to test for Huntington’s Disease is a personal and difficult decision for each At Risk individual to make. Many persons At Risk choose not to test and decide that not knowing is easier than knowing. For many the “symptom seeking” becomes so overwhelming that testing seems to be the only option. For some testing is chosen as there are children involved and the parent would like for their child to have all of the information when planning out their lives. For each person At Risk it is not a decision to take lightly and it is imperative to test “smart”.
Once a decision to test has been made things like Long Term Disability Insurance and Life Insurance should be put into place immediately if not already in place. Should a positive test result be the outcome, these remedies for future care will not longer be options.
Find a Huntington’s Disease Center of Excellence and being the testing process which includes counseling both pre and post testing.
Several persons At Risk for Huntington’s Disease choose to test anonymously so that they have more time to get things like life insurance place. Once a positive genetic test is in you medical record it will follow you.
Genetic testing for children is prohibited prior to the child reaching the age of 18. However, if Juvenile Huntington’s Disease is suspected testing of a child may be necessary to confirm the diagnosis of onset once detected in a neurological exam.
For many the Huntington’s Disease gene is already known to exist in them but dreams of family are paramount. For those families Prenatal testing is an option. Pre-genetic Diagnostic testing is an option for those using In Vitro Fertilization to ensure that any fertilized egg will not carry the mutated gene.
If a woman is already pregnant testing of the fetus is an option either via a chorionic Villus Biopsy at ten to eleven weeks or via amniocentesis at fourteen to eighteen weeks. The pregnant mother upon learning the test results may decide to terminate the pregnancy should a positive result be the outcome.
Treatment of Huntington’s Disease
Currently there are not treatments to alter the course of Huntington’s Disease nor is there a cure. However, medications can be utilized to lessen the movements and psychiatric symptoms of the Disease. The medication management will change over the course of the life of the Disease but can make a difference to the person affected. Therapies may also be utilized to assist the affected person adapt to the changes within their mind and body.
Alternative Therapies/Vitamin Supplements
Many of those affected by Huntington’s Disease have taken a proactive approach to their treatment and have added Vitamin Supplements to their regularly prescribed medications. A list of those Vitamin Supplements is as follows:
- Coenzyme Q10
- Vitamin E
- GABA (GAMMA-AMINOBUTYRIC Acid)
- EGCG (epigallocatechin 3-gallate)
Many of the symptoms of Huntington’s Disease are caused by the inability of the brain to properly communicate with the body due to the death of cells in the brain. CoEnzyme Q10 has a double function and appeal for persons affected by Huntington’s Disease. CoEnzyme Q10 is not only an antioxidant which is known to protect cells from damage but it also helps with the transfer of energy between cells. So in cells that are not yet dead or have minimal damage which is being stalled by the antioxidants, the ability of the brain cells to continue to communicate is assisted.
Antioxidants have been discovered through research to slow/delay, prevent and in some cases reverse the damage to brain and nerve cells. As the progression of Huntington’s Disease is directly related to the deterioration of brain and nerve cells antioxidants, which are thought to protect cells from damage and even to reverse some damage, are taken in conjunction with the medications prescribed.
The biological process of the body are controlled by adenosine triphosphate or ATP, Huntington’s Disease causes an interference with the production of cellular energy which depletes the levels of ATP. Creatine is known to not only assist in the maintenance of cellular energy but it is also restores ATP levels. Research has shown that increased levels ATP brought on by the use of Creatine can protect the brain from further neurodegeneration.
Gamma-Aminobutyric Acid or GABA for short is known to assist with Chronic Pain, Anxiety and mood disorders all of which are symptoms of Huntington’s Disease. It is all been discovered that the levels of GABA in those suffering from insomnia or sleep issues are very low.
GABA is available in both pill form and in a tea. Both are sold over the counter and known to create feelings of being relaxed and promotes a more restful sleep.
Trehalose is actually classified as a disaccharide sugar or food product. It is in essence a stabilizing molecule that is known to assist in maintaining protein structure as well as ramps up autophagy. Autophagy is one of the body’s natural cellular processes that is known to kill the Huntington’s Disease protein which causes cellular death.
EGCG (epigallocatechin 3-gallate)
EGCG is another antioxidant taken by those suffering the effects of Huntington’s Disease. There are currently human trials underway in German with regard to its effectiveness relating to Huntington’s Disease. EGCG can be found in Green Tea.
Cannabinoids have been used for centuries to treat a plethora of maladies. With regard to Huntington’s Disease, cannabinoids have proven to be most helpful with the treatment of several symptoms. Things like pain, sleep, depression and anxiety have all been proved to be assisted with the use of cannabinoids.
With regard to cognitive behaviors, studies have shown that cannabinoids can remedy deficiencies in dopamine which has a direct effect on cognitive behaviors such as memory, attention and concentration. All of these are symptoms of Huntington’s Disease.
Dramatic weight loss is a problem with Huntington’s Disease while this is sometimes the case in the end stages due to swallowing issues it can also be a problem in the early stages of the Disease. In this case, the THC in marijuana is a known appetite stimulant and can assist with keeping the weight on.
Of most import is the evidence that Cannabinoids actually act as a neuroprotective agent i.e., they have been found to prevent the destruction of neurons.
Difficulty sleeping can be a major problem for someone suffering from Huntington’s Disease. THe ability to fall asleep and stay asleep can be greatly affected by not only the involuntary movements (Chorea) but also the anxiety brought on by the Huntington’s Disease. Melatonin has been utilized for years by hundreds of people to assist with sleeping. It is known to not only assist with the ability to fall asleep but also to sleep more restfully. There are two forms of Melatonin available to you both “extended release” and “immediately release”.
The extended release form of Melatonin has been found to be more helpful with the assistance of sleeping for someone suffering from Huntington’s Disease. The extended release form of Melatonin assists with the problems brought on by the movements and anxiety such as restlessness and the inability to stay asleep.
Another in the arsenal of antioxidants known to protect brain and nerve cells from damage. This particular antioxidant is of the metal variety. In the brains of those affected by Huntington’s Disease the proper levels of this metal are not maintained. Selenium is an easy natural way of assisting the Huntington’s Disease brain keep those levels maintained.
Note: As with all supplements, consult your neurologist for proper dosages specific to your symptomology and current prescription list.
While many studies have been completed with negative result, further studies by the Huntington’s Disease Researchers around the world with regard to these supplements and many others continue. Regardless of the findings of the studies performed, persons affected by Huntington’s Disease many report a difference in their symptoms when these supplements are added to their daily routines.
Putting An End to Huntington’s Disease
In mid-1993 Huntington’s Disease researchers identified the gene that cause the Disease. Prior to that only a genetic marker could be determined. Since the discovery of the gene, researchers moved quickly towards creating treatments and ultimate goal of a cure. All of those affected by the Disease, At Risk, Gene Positive, Gene Negative and caregivers have the opportunity to participate in the ongoing research and race for a cure.
The most exciting news since 1993 has only just become a reality. The use of IONIS-HTTRx, a new drug that when used in mouse models not only completely stopped the production of the Huntington’s Disease protein which causes cell death but it began to reverse symptomology. NOt only did the mice in the study regain motor functions, but they returned to their state of health prior to being infected with the Huntington’s Disease protein.
The drug is now in the human trial stages and is being administered through lumbar injections delivering the drug directly into the cerebrospinal fluid. Up until now doctors could only treat the individual symptoms of the disease. This new drug spells out a true treatment for the Disease itself and very possibly a cure.
Seeking Assistance is not Futile
Where to find assistance
Now that you have all of the scary and not so scary information you are ready to reach out for assistance in processing it all. There is more assistance than you may realize, while this is a “family” disease you and your family are not alone. The Huntington’s Disease Society of America or HDSA offers a huge wealth of information including Social Workers, Centers of Excellence, support groups and much more.
Once you are ready to reach out, look for a support group in your area. In some cases you will have to travel to a group but the travel will be worth the feeling of extended family and understanding that you will walk away with. You will become a part of a community all working for the same goal and all experiencing some level of the effects of this horrible disease.
Making it Work
How to’s on being a Caregiver or a Patient
For many dealing with Huntington’s Disease is overwhelming for many reasons but like all other things as human we tend to sweat the small stuff. Some reminders of small stuff fixes when dealing with Huntington’s Disease. Downplay the past and highlight the present and future. View the person or yourself as healthy, competent and resourceful. Always focus on what is working. Create solutions rather than getting stuck on the problem. Remind the person you are caring for or yourself that small changes can lead to large changes. Then take your time focusing on small realistic and achievable goals and changes. If you ever wanted to sit back and smell the roses the time is now!