The Complete Guide to Huntington’s Disease
Huntington’s Disease (HD) is considered to be one of the most devastating mental illnesses. Also referred to as Huntington’s chorea, it’s a powerful terminal brain illness that’s similar to having Alzheimer’s, Parkinson’s and ALS all at the same time. This disease is incurable and it results in the affected person losing control of their body movements, emotions, and cognitive abilities. This is a progressive disease that not only destroys the mind but the body too.
People who have HD eventually find it hard to walk or even communicate or do anything for themselves. The interesting thing is that they remain coherent until they die. That is, they know and are aware of what’s going on around them but they are unable to respond to it. They eventually become prisoners of their own bodies. For instance, they can hear what they are being told but they might be unable to respond. They might fall over when trying to walk; therefore, they have to use wheelchairs.
This disease was first identified by Dr. George Huntington in 1872. In 1993, it was discovered that it’s the mutation of the Huntington gene that causes this problem that’s passed on from parent to child.
Stages of the Disease
The disease progresses in different stages.
Stage 1 (From 0-8 years since initial diagnosis). This is the initial stage of the disease when one has just been diagnosed. During this stage, the person will have some level of independence. They will still be able to go to work, albeit on a part-time or even voluntary basis. They will also be able to manage their finances, household chores and their daily activities to take care of themselves, such as dressing, bathing, and eating. Alternatively, the person can even hold a salaried job, even though they might need to work a lower level job. Or they might need some assistance when in one of their daily life tasks, such as handling their finances or household chores.
Alternate Stage 1. The person might be in denial about the diagnosis that they have been given.
Stage 2 (From 3 to 13 years since initial diagnosis). During this stage, the person might be unable to hold down fulltime employment. However, they can still carry out their day to day living activities with only a bit of help. This includes doing things like bathing, household chores and handling their finances.
Alternatively, the person might be unable to hold down salaried employment and they will need one major help in their daily function while needing only slight assistance in other areas.
Alternate Stage 2. The person might still be committed to pushing on with life despite the dire diagnosis that has been made.
Stage 3 (From 5 years to 16 years since initial diagnosis). The person will not be able to have a job. They will also need major assistance with their daily living activities, for instance, when it comes to handling their finances and domestic chores.
Alternate Stage 3. The person might be sorry for all the pain that they are causing their family members to go through. However, they can’t help themselves.
Stage 4 (From 9-21 years since initial diagnosis). Requires a lot of assistance when it comes to their day to day life, such as managing their finances, and household chores. They understand the procedures that they need to do but they need help to act on them. You might opt to take care of the patient at home or in an assisted living facility.
Alternate Stage 4. They have the determination to keep going through all the challenges that they are facing.
Stage 5 (From 11-26 years since the initial diagnosis). At this stage, the individual is largely dependent and requires a full-time caregiver or nurse. They will need assistance with most things in their life, such as household chores and even financial matters.
Alternate Stage 5 (Acceptance). At this stage, the individual has accepted that they need the assistance of others to take care of them. He understands that other people are there for him.
Huntington’s Disease Symptoms
You are likely to experience some of the key symptoms of this illness when you are between 30 to 50 years old.
Some of these symptoms include:
- Having a hard time remembering things
- Having trouble making decisions
- Involuntary jerky movements
- Being unable to control your movements
- Walking unsteadily
- Changes in your character
- Being moody
- Weight loss
- Weak posture
- Being unaware of your own actions and behavior
- Finding it hard to talk or swallow
- Poor coordination
- Finding it hard to learn new things
- It is also challenging for the affected person to organize and focus on tasks.
- Behaving rashly
- Depression, which can be accompanied by other symptoms like being suicidal, apathy, socially isolating yourself, insomnia and exhaustion.
- Being disoriented
- Having problems multi-tasking
Adults who have this disease can live for 15 to 20 years after the initial diagnosis. The symptoms become more visible over time.
Juvenile Huntington’s Disease affects children or teenagers. Generally, it is referred to as Juvenile Huntington’s Disease if it affects individuals who are under 20 years old. However, it is a rare condition. The major difference between Juvenile HD and adult HD is that the symptoms in Juvenile HD tend to progress faster. Children who have this condition tend to live for 10-15 years after the initial diagnosis has been made.
The symptoms of Juvenile HD include:
- Unclear speech
- Being rigid
- Falling over all the time
- Poor academic performance due to the diminished reasoning capacity
- 30 to 50% of children with this condition experience convulsions
- Slow and extraordinary eye movements, otherwise known as dystonia.
- Emotional symptoms include:
- Being angry
The symptoms of this disease get worse as the disease progresses. During the late stages of HD, some of the symptoms experienced include extraordinary postures, such as an arched back or twisted face, inability to carry out forceful movements, lack of balance and being generally weak. The person becomes slower and slower, as they become more rigid. This often affects the individual’s ability to have good body posture or even walk, leading to the person having to eventually use a wheelchair.
Children who are diagnosed with this condition rarely live to grow up and become adults. With time, the person who has HD becomes totally dependent on others to take care of him. People who have this disease eventually die as a result of heart failure, choking or infection.
In some cases, the individual might have symptoms of HD before they get a full diagnosis. There are instances when Huntington’s Disease might be mistaken for Alzheimer’s or Parkinson’s disease. This mostly happens when one is not aware of the medical history of their family and do not know about the mutated genes. But generally, the symptoms displayed vary from one individual to the next.
There are various complications that might arise from this disease. For instance, the inability to carry out tasks can lead to frustration and anger and even depression.
The loss of weight experienced reduces immunity in the individual. This makes them more susceptible to getting infections. That is why it is essential that you always make adjustments to the patient’s diet at all stages, so as to accommodate their needs and ensure proper nutrition.
This disease comes about as a result of the mutation of the HTT genes. The HTT is the gene that provides instructions for the production of the Huntingtin protein. It is not yet clear what the function of this protein is. However, it seems like this protein serves a critical role when it comes to the nerve cells in the brains.
The HTT mutation that results in HD is connected to the DNA segment referred to as CNG trinucleotide repeat. This DNA segment has three DNA building blocks that are repeated many times in a row. The CAG segment appears 10 to 35 times in a row in this gene. People who have HD tend to have this segment repeated between 36 to 120 times. Individuals who have this segment repeated 36 to 40 times might have HD or not. However, in cases where the segment is repeated 40 or more times than the affected individual definitely develops HD.
When the CAG segment is larger than normal, a larger than the normal version of the huntingtin protein will be produced. This will result in the protein being chopped up into smaller pieces. What then happens is that these small pieces will end up getting bonded together and amassing neurons. This interrupts how the cell functions normally. This results in dysfunctionality of some of the neurons in the brain and their eventual death. This is what causes the signs and symptoms that are exhibited when one has HD.
Who’s at Risk?
Anyone is at risk of getting this disease, regardless of their age and gender. Therefore, both adults and children can get this condition.
Since this disease is inherited, you have a 50% risk of getting this condition if one of your parents has this condition. If your parents have this gene, it means that they have a good copy of the gene and a faulty copy. Since this is a chromosomal disorder, for you to get this condition, you only have to get one copy of the mutated gene in each of your cells for you to develop this condition. You can inherit this mutated gene from one of your parents. If you inherit the faulty gene, you will develop HD; however, the child who does not inherit the faulty gene will not get this condition. That is why HD can affect a family for many generations. The child who does not inherit the faulty gene cannot pass it on to their children. If you inherit the faulty gene, then it is just a matter of time before you start displaying the symptoms. However, there are cases where someone can develop HD even if none of their parents has HD.
As the mutated HTT gene is passed on from one generation to the next generation, the CAG trinucleotide repeat tends to get bigger in size. A large number of repeats lead to the signs and symptoms starting earlier in life. This is what is referred to as anticipation. Adults who have early onset symptoms tend to have between 40-50 CAG repeats in the HTT gene. Children or adolescents who have HD tend to have 60 or more CAG repeats.
In cases where a person has 27 to 35 repeats, chances are that they will not develop HD, but their child can develop this condition. As the gene is inherited from parent to children, from one generation to the next, the number of CAG repeats might reach the number of repeats which are required for one to develop the disorder, which is 36 or more repeats.
Three to seven out of 100, 000 people of European descent are affected by HD. In the U.S. one in every 10, 000 to 30, 000 people is affected by this condition. In addition, 150, 000 people are at risk of getting HD.
HD is quite common among the people who live around Lake Maracaibo in Venezuela, where 700 out of every 100, 000 people have it. In Australia, 1, 200 people have HD, while there is a risk of 6, 000 people developing this condition. In Tasmania, 12 out of every 100, 000 people get this condition.
HD is not common among the Japanese, Africans and the Chinese.
In order to diagnose the disease, the doctor will ask the patient about the symptoms that they are experiencing. He will also ask about the family’s medical history. In case the doctor thinks that there is a chance that you might have HD, they will then refer you to a neurologist.
The neurologist will carry out various tests to know whether you have this condition. They will carry out genetic testing to check your genes.
In addition, various imaging tests will be carried out to examine your brain. For instance, an MRI scan and CT scan will be done to check the brain of the individual to check if there are any damages to it. this helps to rule out other disorders.
Currently, there is no treatment for this disease. There is no way of stopping it or slowing it down. Treatment will mainly focus on managing the symptoms experienced through the use of medicine and various therapies.
It’s important to get medical care when dealing with this condition. This is because your physician will come up with a treatment plan that will help you manage the condition. In addition, the caregivers will also be given useful information on how to take care of such an individual.
Treatment is given to help deal with the psychological aspect of this condition. This includes anti-depressants and mood stabilizers. In addition, involuntary movement suppressants are also administered.
Medications include the use of Xenaxine (Tetrabenazine). This medicine is approved by the Food and Drug Administration. It is used to handle the jerky movements that are associated with this disease. Some of the side effects of this drug include depression; therefore if you have been diagnosed with depression it is not advisable to use this drug. Also, if you notice signs of depression after you have been put on this drug, it is important to let your doctor know.
Various drugs are prescribed to control the hallucinations that the patient might have their explosions and movements.
This includes drugs like
Some of the side effects of these drugs include making one feel drowsy and stiff.
Medications that are prescribed to help deal with the depression and the obsessive-compulsive characteristics include
To help deal with moodiness and severe emotions, the doctor can prescribe Lithium.
The thing about the drugs that are used to treat HD is that they have lots of side effects. This includes effects like insomnia, being moody, loss of appetite and exhaustion.
Speech Therapy. Speech therapy is particularly handy when it comes to finding new ways to communicate with the individual, as their oral speech starts failing. It can help in finding the right words to be used.
Physical Therapy. Due to the instability that arises from this condition, the patient can easily keep falling over. Working with a physical therapist can help to strengthen the body muscles, so as to gain better body balance. This great minimizes the risk of falling.
Occupational Therapy. The patient can work with an occupational therapist to help improve their memory. This helps the individual to be able to concentrate better.
More research is being done about this condition with the hope that a cure for it will soon be found.
One of the solutions that researchers are experimenting with is the use of gene therapy to cure this condition or at least slow it down or even prevent it from happening in the first place. This involves the use of synthetic small interfering RNAs (siRNAs) to prevent the faulty gene from producing protein. This will stop the Huntingtin protein from accumulating and triggering various symptoms.
But one thing that is yet to be solved is how to get the siRNAs to the right brain cells so that they can work effectively.
Researchers from Emory University came up with what is known as CRISPR/Cas9 techniques in 2013. This involves cutting the DNA and pasting it. This can work to stop HD from developing in the future.
When this research was done on mutated mice genes, it was discovered that the mice showed great improvements after 3 weeks. A lot of the damaging protein was no longer there and the nerve cells seemed as if they were getting healed.
However, before this concept can be used on human beings, there is a still lot of research that still needs to be done.
Another major step that has been made when it comes to researching treatment for this condition was made by the University College London (UCL). According to research, this is a drug that is used to suppress protein accumulation in the brain. This is the protein that causes HD. However, clinical trials are being done on this drug before it can be declared fit to be used on human beings. This drug is known as IONIS-HTTRx.
This drug works by attaching a tiny bit of genetic material to the RNA or genetic code. This stops the Huntington gene from producing the harmful proteins that cause HD.
A human trial of this drug was first done in 2015 on 46 patients. During the trial, IONIS-HTTRx was injected into the spinal fluid, so as to enable it to get to the human brain. From the results obtained, it was observed that indeed this drug helped to reduce the amount of huntingtin protein produced. It was also observed that there were no severe reactions to the drug among the participants. However, more research still needs to be done about the drug before it can start being recommended for use to HD patients. This is a research study that has been done for over 30 years, so its success will be the culmination of many years of hard work.
Huntington’s Disease and Pregnancy
If you know that either you or your partner has a family medical history of having a faulty gene, you can opt to get pregnant through IVF. Once the embryo is formed, it will get genetically tested to see if it has HD before it is implanted in the woman’s uterus. Only embryos with none faulty genes will get implanted.
In addition, if you are pregnant, you can have a genetic test done on the embryo, in case you have a family history of HD. This test is done when you are 14 weeks to 18 weeks pregnant through a test known as amniocentesis. Alternatively, it can be done when you are 10 or 11 weeks pregnant through a test known as chorionic villus sample (CVS).
Home Remedies for Huntington’s Disease
Mental Training. The family and caregivers of the sick person have to create an environment that encourages mental stability for the individual. This includes doing things like having a set routine for the family members and the sick person. Also, use a calendar for planning purposes and set reminders. This allows the person not to be stressed out but to relax. In addition, it allows them to make their own individual decisions. Avoid family conflicts as much as possible and ensure that the house has been properly organized and kept.
Physical Activity. Working out on a regular basis will help to slow down the progression of this disease. This is because it allows the body to be active. Also, the endorphins that are released and hormones that are stimulated help to minimize the body from breaking down. In addition, exercising helps to detoxify the body and this helps to deal with the condition. Moreover, taking foods that have lots of spices can also trigger lots of sweating. This includes foods like chili, hot pepper, and wasabi. People who exercise on a regular basis handle this disease much better than individuals who do not exercise at all.
Green Tea. Green tea is great for people who have Huntington’s Disease since it helps to relax the mind. It minimizes stress and anxiety that might be affecting the mind. Since it is the brain that is greatly accepted by HD, neural stimulation can greatly prevent the disease from getting worse.
Meditation. This is a great way to relax your mind and body and slow down the progression of the disease. Therefore, this is a strong tool that can help you to become stable. Alternatively, you can try yoga. Yoga also helps to trigger the body to remove more toxins from its system.
Vitamin E. Take lots of vitamin E to help trigger more neurological connections. This helps to slow down the brain from declining and helping individuals to be able to have a normal life for quite some time.
Nutritional Changes. The appetite for people who have HD tends to decline. That is why a lot of people who have HD suffer from weight loss. This can be so severe that it can lead to various complications. To minimize the chances of this happening, it’s important that you make changes to the diet of the patient. For instance, you can puree or blend their food to make it easy for them to chew and swallow.
Also, consider whether the ketogenic diet or intermittent fasting might help the patient. Just make sure to do this under the supervision of a doctor. These diets help to prevent neurons from getting injured and it slows down weight loss.
As much as these home remedies are helpful, do not fully rely on them alone. You still need medical intervention to help keep the disease under control. Therefore, the home remedies should supplement the medical treatment that you are already getting.
Tips for Caregivers
People who have Huntington’s Disease eventually need to have caregivers, as the patient becomes more and more sick, therefore more and more dependent. They will eventually need someone who can take care of them 24/7, so as to give them the assistance that they need and also to prevent accidents from happening. Some of the tips for caregivers include:
- Feeding the patient with foods that are high in carbohydrates and proteins. Make sure that they only eat small pieces of food to minimize the chances of the person choking, considering that people who have HD have a hard time swallowing.
- Instead of feeding the individual three large meals in a day, consider breaking this up into smaller sized portions and increase the frequency of meal times. This is also advisable since a person with HD tends to move around a lot. This means that they will use up lots of energy, therefore they tend to get hungry much more frequently. Increase their calorie intake, so as to keep up their strength.
- Consider using large plastic dishes and cutlery, since they are less prone to breaking in case they get dropped. In addition, larger utensils will be much easier for the individual to hold when they are eating.
- Prevent your loved one from withdrawing and getting socially isolated by trying to keep them engaged most of the time. Interact with them on a regular basis.
- Establish good communication channels. Try to understand the individual as much as possible by paying attention to them and what they are trying to say. For instance, you can ask questions that require yes/no answers, so as to get more clarity about what the person wants. As speech deteriorates further, you can encourage the patient to draw or write down what they are trying to say or even develop non-verbal cues that you both understand the meanings to. The person might have lost their ability to communicate but they haven’t lost their understanding. They are still aware of what is happening around them.
- Be accepting and understanding of the person as they are and treat them with the dignity that a human being needs.
While you might feel hopeless when it comes to managing this disease, all is not lost. There are lots of things you can do to help slow down the progression of the disease and to improve the quality of life of the patient.
Even though this disease is incurable, you can use natural methods to manage this condition. This includes being on a healthy and organic diet. This will do a great job of minimizing inflammation caused by a disease such as HD.
The good news is that there is some promising research when it comes to developing a cure for this disease. This can help to curb and also reverse the effects of this debilitating illness.
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