Discovering that you’re at risk of a neurodegenerative disease is understandably devastating. Your outlook on life completely changes and what seemed like a bright future full of possibilities is now thought of with dread. What is Huntington’s Disease and how is life like with it? Is it treatable? Who is at risk? But along with these important questions come many ethical dilemmas and controversies.
What Is Huntington’s Disease?
Learning about the ins and outs of a disease as dangerous and life changing as Huntington’s disease can be the only way to cope. Huntington’s is a genetic disease that gradually diminishes the brain abilities, compromising along the years the ability to talk, walk, carry on your daily needs, and finally the ability to think. Huntington’s is a genetic disease; that is, it can be inherited not transmitted. So while you cannot possibly contract the disease from a friend, there’s a 50% possibility the gene will be passed on to your children. Huntington’s is also a progressive disease, meaning that it gradually gets worse.
Huntington’s disease has many obvious symptoms that it is almost difficult to mistake even without diagnosis. Most Huntington’s patients and families are often capable of pin pointing the little behavioral changes. Physical symptoms though vary in severity according to the stage of the disease and the age of the patient.
Developing ticks is one of the most obvious points of the disease. Ticks are uncontrollable movements in the face, hands, and legs. These movements can be violent and repetitive and do compromise the lifestyle greatly. As the disease progresses, these ticks might cause difficulties in eating and walking and might cause harmful falls.
Most families of Huntington’s disease patients will notice how the patients will start to appear more clumsy than they used to be; clumsiness and stumbling while walking and also a few changes in behavior (like more anger outbursts) can be indicators that the disease is starting to manifest itself.
Huntington’s also compromises speech abilities. Slurring is an inevitable result. Difficulty in swallowing, drooling and grinding of the teeth also develop. These changes alone can affect the quality of life negatively.
Huntington’s sufferers are also going to end up experiencing some type of mental symptoms. So families and caregivers should be aware that the patient would have issues with memory, concentration, and making logical decisions, all of which make self-reliance out of the question.
One caregiver once made a comprehensive comment saying, “Huntington’s is like having Parkinson’s, Alzheimer, ALS, and schizophrenia at the same time.” An HD sufferer will in the first few years look and sound like they are drunk. As the disease progresses, dementia is the final outcome.
Huntington’s patients are bound to eventually be bed-ridden and will inevitably need full time care. They will be fed through a tube and will lose most of their motor functions. Most sufferers don’t die due to direct consequence of the disease, but more due to the infections and the general weakness their bodies are left with because of the disease, in addition to dangerous falls. The average lifetime of HD patients is 10-20 years after the appearance of the symptoms. Currently, there is no known treatment to end or slow down the deterioration.
Huntington’s Disease Diagnosis
Because the symptoms are often unmistakable, most patients can recognize the disease before any diagnosis. Huntington’s runs in the family, so if you have a family history of the disease, you would be pretty familiar with the onsets and the progress. Finding out if you have the carrier gene or not is probably more crucial than the final diagnosis.
Huntington’s disease often starts manifesting itself later in life (usually over 40); therefore, families have already had children and their children might even have their own children. Children of Huntington’s sufferers are 50% at risk of having the disease. Prenatal testing can be beneficial in this case. If a pregnant mother is concerned whether she had passed on the gene to her unborn child or not, the test can be useful. The testing is done by taking a few of the cells from the placenta and the results will inform the parents if the fetus has inherited the disease or not. An ethical dilemma emerges on whether you should knowingly have a child who is doomed to live with a devastating incurable disease.
Pre-symptomatic testing is another option. If you have a parent or a sibling with the disease, you might feel the need to know where you stand from the bad gene. However, because the disease is incurable and early discovery doesn’t have an positive effects on the final outcome, it’s understandably unethical to allow children this kind of destructive knowledge. Thus, pre-symptomatic testing is only allowed for adults over 18 years old.
Confirmation of the disease is the last type of testing that is normally done to help confirm if the disease (the onsets) started showing, although pre-symptomatic tests do deliver accurate and final results. It’s agreed that if you test positive for the carrier gene, you are bound to have Huntington’s disease, though the period which your body would take to show the symptoms is never predictable and varies from one person to the other. If you test negative for the carrier gene, you will not have the disease and you will not pass it on to your children.
Huntington’s Disease Treatment
Treatment is the light at the end of the tunnel for every tough disease. It’s what gives the patients or the potential patients a hope in a better future, a more tolerable quality of life, something to look forward to. But unfortunately, as far as science and medicine can go, Huntington’s disease is still incurable. There is no known treatment to prevent the disease or slow down its deadly symptoms. Physicians though prescribe medications to help control some of the symptoms, including hallucination, depression, and the violent jerking of the body.
Diet and use of supplements are a suggested approach at maintaining a healthy lifestyle to possibly delay the onsets of HD. No available treatments though are scientifically guaranteed to work. Physical and mental exercise are also suggested. Keeping your brain occupied and working can enhance its resistance against dementia.
The most important aspect that should be addressed in this case is the emotional status of both the patient and the family. Huntington’s is an awful disease and having to watch someone you love lose themselves is draining and heartbreaking. The patient, with no expectation of a better tomorrow, often falls into depression. And the family, the spouse,children, and parents, are left to watch helplessly as the deterioration gradually takes their loved one away from them. Support communities and professional help must always be available for HD families.
Huntington’s Disease Prognosis
The life expectancy of Huntington’s disease sufferers is an average of 10-30 years since the appearance of the symptoms. Death doesn’t occur as a direct consequence of HD as we mentioned before, but mostly infections, heart failure, falls, or pneumonia. Although HD usually starts showing symptoms later on life, children as young as 2 years old could have it. In the case of children with Huntington’s disease, the progression of their disease is much faster and they mostly don’t survive into adulthood.
Legal and Ethical Dilemmas
Because Huntington’s disease is hereditary and incurable, many legal and ethical dilemmas arise when addressing the subject. Among the controversial questions is that of bearing children. Should parents with confirmed HD have kids? On the one hand, it is their life and they are completely free to do with it as they see fit. On the other hand, there’s 50% possibility their child will be born carrying the gene of an incurable devastating disease.
Another ethical issue is that of euthanasia. Huntington’s disease patients, for now, have nothing to expect but the constant and cruel deterioration in physical and mental health. Should a patient in this case choose to put an end to their own lives to avoid the misery, or should they accept and struggle with their fate and make the best out of their bad situation.
There is also a legal dilemma concerning HD testing. Insurance companies might discriminate against clients with family history of Huntington’s disease. Also, since the testing is not mandatory and some at-risk individuals choose to never know if it’s a definite yes or a definite no, employers should not enforce any policies that take the testing into considerations.
Huntington’s disease doesn’t exclusively affect the gene carrier; there is also a whole family involved: children who suddenly find themselves the caregivers of their own parents. It can be bleak and depressing to imagine a childhood so stressful, but also inspiring and so very strong. Families with HD need hope; they need a reason to hold on and carry on the fights. They need the possibility of a normal life, of healthy of spring, of a graceful old age. In the United States alone, one of every 10.000 Americans has HD. The disease needs a cure, and for a cure to exist, tons of research and scientific efforts must be invested in the cause.