Daniel Mundy sat on a green checkerboard couch and talked about how much he loves his daughter. His words were simple, common expressions of love any father could say, yet there was something strikingly different about this picture. As he sat, chatting about his daughter, his body was performing a dance without his brain’s permission. His torso twisted and turned like it was trying to do a pirouette without bringing along his legs. His arm swung back and forth in a chopping motion and his head bobbed up and down. He had Huntington’s Disease and, sadly, his daughter has a fifty percent chance of having it too.
Huntington’s Disease (HD), named after George Huntington, an American physician who published the first full description of the disease in 1872, was originally called “Chorea,” after the Greek word for dance, due to the constant and uncontrollable dance-like movements patients exhibited. But, the disease affects more than just the movement of the individual. Eventually, all patients will also suffer a loss in the ability to speak and even reason.
The neurodegenerative disease is caused by a mutation in the HTT gene on chromosome 4. With the mutation, the gene is expanded, meaning it causes part of the DNA to occur many more times than it should, provoking a breakdown in the nerve cells of the brain over time. These nerve cells are responsible for virtually everything about a person, from their physical movements to their behavioral and cognitive processes. Unfortunately, while there are medications available to mitigate some of the symptoms, there is no known cure for HD and every person who carries the mutated gene, will eventually develop symptoms.
While each person will experience a slightly different combination of symptoms, the progression of the disease will generally follow three stages of severity. In the early stage of the disease, usually presenting between 30 – 50 years old, someone might experience issues with coordination and begin to exhibit involuntary movement. They may have some difficulty problem solving or organizing information as well. Often, accompanying these symptoms are mood changes and depression, most often a result of the cell damage and not the person’s will. The middle stage of the disease usually brings an increase in the movement disorder. With this, comes diminished speech and often a difficulty in swallowing, which increases the threat of choking. Breathing becomes labored and the coordination of speech and breathing mechanisms is very difficult, resulting in unintentional grunting sounds. For most with the disease, it is at this point where many of their daily activities will become much harder to do without assistance.
The symptoms continue to worsen over the course of 10 to 25 years. In the advanced stage, those with the disease become completely dependent on others’ care. The movement disorder usually becomes extremely severe and, often, they no longer can walk or speak much at all. However, while someone with HD may have difficulty expressing themselves, they do not necessarily have difficulty understanding what they hear or what is going on around them. Some patients will be able to recognize family and friends throughout the disease, though some will start to have troubles retaining those familiar to them. Living with HD is as if someone is living with ALS, Alzheimer’s and Parkinson’s all at once. It is as if they are trapped in their own body without the means to control it their basic functions. In the end, it is usually complications such as choking, pneumonia, heart failure or an infection that actually causes death and not the disease itself.
HD is considered the “quintessential family disease,” because a child whose parent has the disease has a 50/50 chance of carrying the mutated gene and consequently developing symptoms. Today, the numbers are rising. According to the World Health Organization, 5 – 7 people will develop HD out of every 100,000 in Western countries. There are 30,000 symptomatic Americans and roughly 1,600 symptomatic Australians. The prevalence is unusually high in Tasmania, with about 12 per 100,000 with the disease. Worse, because of the risk of inheritance, there are many more who might develop the disease in the future. Unfortunately, there are roughly 200,000 people at risk in America and 6,000 at risk in Australia today, with numbers climbing.
While there is no cure for HD, research continues every day to further understand the disease and, eventually, to eradicate it. Currently, there are trials attempting to use gene silencing therapy to prevent carriers from becoming symptomatic. Medications used to treat similar nerve diseases like Parkinson’s are also being analyzed as possible treatment methods for symptoms. Hopefully, with continued support and research, medical professionals will have a breakthrough soon. In the meantime, it is important to remember and honor those lost to the disease and those who are facing its unfortunate sentence.
In 2010, Daniel was in stage two of his progression through Huntington’s Disease. He bravely chronicled his illness through videos posted online for people to see, allowing people to begin to understand what it is like to live with the disease. He wanted to build compassion and awareness. In 2014, he lost the battle, though his courage and determination will live on through the videos. If you are interested in Daniel’s story, you can view the whole story here.
Original feature image courtesy of Linda Doyle.