The Cruelty of Huntington's Disease

This is an old friend of mine, Pam, who is in the final stages of Huntington's. She has not long to live. She is a brilliant woman, an author, ( I once illustrated a book for her) an environmentalist, animal lover, mother and grandma with a great sense of humor. Her life is a story of courage and a testament to a spirit that never gives up.
WHAT is Huntington disease? Huntington disease Huntington disease (HD) is an inherited brain disorder. HD causes cells in parts of the brain to die: specifically the caudate, the putamen and, as the disease progresses, the cerebral cortex. As the brain cells die, a person with Huntington’s becomes less able to control movements, recall events, make decisions and control emotions. The disease leads to incapacitation and, eventually, death (generally due to other health complications).

WHO gets it? Huntington disease is a genetic disorder. The HD gene is dominant, which means that each child of a parent with HD has a 50% chance of inheriting the disease and is said to be “at-risk”. Males and females have the same risk of inheriting the disease. Huntington’s occurs in all races. Symptoms usually appear between the ages of 30 and 50, but the disease can appear in children or seniors. The disease is more prevalent in Europe and in people of European descent. 

WHAT are the symptoms? Emotional turmoil (depression, apathy, irritability, anxiety, obsessive behavior) Cognitive loss (inability to focus, plan, recall or make decisions; impaired insight) Physical deterioration (weight loss, involuntary movements, diminished coordination, difficulty walking, talking, swallowing) There are significant variations in symptoms, and not every person will have all the symptoms to the same degree. Symptoms also vary with each stage of the disease.
Early Stages Early symptoms of the disease often include subtle cognitive changes. May have difficulty organizing routine matters or coping effectively with new situations May have difficulty recalling information may make them appear forgetful Work activities may become more time-consuming Decision making and attention to details may be impaired May include irritability Slight physical changes may also develop at this stage.
There can be involuntary movements which may initially consist of “nervous” activity, fidgeting, a twitching of the hands or feet, or excessive restlessness. Individuals may also notice a little awkwardness, changes in handwriting, or difficulty with daily tasks such as driving. At this stage, people with Huntington’s can function quite well at work and at home. Intermediate Stages As the disease progresses, the symptoms become worse.
 The initial physical symptoms will gradually develop into more obvious involuntary movements such as jerking and twitching of the head, neck and arms and legs. These movements may interfere with walking, speaking and swallowing. People at this stage of Huntington’s often stagger when they walk and their speech may become slurred. They may have increasing difficulty working or managing a household, but can still deal with most activities of daily living.

ADVANCED STAGES : The advanced stages of Huntington’s typically involve fewer involuntary movements and more rigidity.  People in these stages of HD can no longer manage the activities of daily living and usually require professional nursing. Difficulties with swallowing, communication, and weight loss are common. Death usually occurs 15 to 25 years after the onset of the disease. People don’t die from Huntington’s itself, but from complications such as choking, heart failure, infection or aspiration pneumonia.

Are there TREATMENTS?  In 2011, Canadian researchers provided bold new hope when they were able to successfully reverse the physical symptoms of the disease in a mouse model. This groundbreaking research is the first of its kind in the world and represents a major milestone on the path to the discovery of an effective treatment. Testing and further study of this new model of prevention are ongoing. At the moment, however, there are no treatments that will slow down or stop the disease in humans.
There are some drug treatments available that can reduce some of the symptoms of HD, such as depression, anxiety, and involuntary movements. These drugs can have side effects, so not everyone with Huntington’s uses them. On a more promising note, there are several advanced drug trials underway under the auspices of the Huntington Study Group, an international consortium focused on clinical research in Huntington disease.

 Canadian scientists are extremely excited about the hope that these drugs may hold. They are at the forefront of Huntington's research and are very dedicated to finding the cure. The researchers are also looking at surgical treatments, such as implanting fetal brain cells into the brains of Huntington’s patients in the hope the cells will grow and take over the functions of the dead cells. Researchers feel we are close to reliable treatments.

The successful treatment and/or cure will not come in time to save my friend. Please make a generous contribution  to the Huntington Society of Canada. You may be saving the life of someone you know.

http://www.huntingtonsociety.ca/donate/