Why Huntington's Disease ?

Huntington's disease, which is often called HD, is a hereditary disorder of the central nervous system.

A faulty gene on chromosome 4 causes Huntington’s disease. The gene, which produces a protein called Huntingtin, was discovered in 1993. The faulty gene leads to damage of the nerve cells in areas of the brain, including the basal ganglia and cerebral cortex. This leads to physical, mental and emotional changes in the individual concerned and ultimately death. Secondary illnesses, such as pneumonia, are often the actual cause of death.

Each person whose parent has Huntington's disease is born with a 50-50 chance of inheriting the faulty gene. Anyone who inherits the faulty gene will develop the disease. 

The symptoms of Huntington's disease most commonly develop when people are 30-50 years old, although it is not unusual for them to start much earlier - in children and even infants. Symptoms include:

• uncontrollable muscular movements
• stumbling and clumsiness
• lack of concentration
• memory lapses
• depression
• changes of mood, sometimes including aggressive or antisocial behaviour
• difficulty in speech and swallowing
• weight loss

In the later stages of the disease, full nursing care will be needed. 

Currently there is no cure for the illness.

My Grandparent’s on my father’s side had a large family; unbeknown to either of them my Grandfather carried the HD gene. Four of their children developed HD, including my father. At the time of writing I have seen two uncles die as a result of HD and have an aunt who is very ill. My father is also ill, though putting up a good fight.

One of my now deceased uncles married and had two children, a son and a daughter; both have the HD gene and sadly are showing typical HD characteristics. My sister also has the HD gene. As my Grandfather died without HD being diagnosed, my uncle and my father had no means of knowing that they were carrying and at risk of passing on, a faulty gene.

If it helps put this disease in context, then please consider it through the eyes of my Grandmother. She has had to watch the impact on her whole family and specifically four of her children and three of her grandchildren.

The money given by you will be used by the HDA to care for those affected; promote understanding of the disease; and try to find a cure.

Thank you very much for your support.  

James and Rachel