Huntingdon’s Disease is an hereditary, progressive, degenerative neurological disorder causing a complex mixture of physical, cognitive and mental health problems resulting in profound disability. Every child of an affected parent has a 50% risk of inheriting the disease. It affects both males and females equally. Presently there is no cure for this disease and only limited palliative care.
Huntingdon’s disease affects roughly 7 in ever 100,000 people. It is an inherited disease which starts to exhibit symptoms between the age of 25 and 55. From the first symptoms, it takes between 10 and 25 years to completely degenerate. Onset of the condition is most common between the ages of 30 and 50, although there are about 10% of juvenile cases of the condition.
The gene which causes Huntindon’s disease was discovered in 1993. In a specific part of the genetic code it repeats the information needlessly. The gene then passes this faulty information onto the huntingtin, the protein produced by the gene. This repeated information makes the protein too long to function properly. This extra long protein lacks the protection a normal, shorter protein gives to the brain, allowing deterioration in the frontal lobes and basal ganglia. These are the regions of the brain responsible for higher functioning and movement.
With the discovery of the HD gene, a new predictive test was developed that allows those at risk to find out whether or not they will develop the disease. Animal models have also been developed, and we know that mice have a gene that is similar to the human HD gene. Research on understanding the mechanism that causes the triplet repeat to increase is ongoing, since its discovery could be critical to the development of an effective treatment for this and other similar diseases.
There is a 50 percent chance of a parent passing on Huntingdon’s disease to their child. This makes the late onset of the disease doubly tragic. Often, the person will have started a family before they experience the early symptoms. They then have the combined fear of waiting for confirmation that they have the disease, and the knowledge that their children may be at great risk of Huntingdon’s disease themselves.
It is a cruel disease which gradually robs the person of their intellectual abilities. This includes their long and short term memory, their thoughts and their ability to communicate. It also affects the body and is characterized by violent jerks and twitches.
By far the greatest incidence of Huntingdon’s disease is in Barranquitas, a small village in Venezuela. Nearly 50 percent of the population are carriers of the gene. That amounts to around 25,000 people.
Kay Crewdson was on the Trafalgar Square Plinth on Tuesday 22nd September between 5 and 6pm, raising awareness of Huntington’s disease and the UK HD Alliance. There was also representation on the ground from Regional Care Advisers from the Huntington’s Disease Association There is specialist counselling on offer for people who have a family history of Huntingdon’s disease, who may live in constant anxiety that they or their children have inherited the faulty gene.