(On the limits of human suffering)

the disease

Huntington’s Disease is a genetic, progressive and fatal neurodegenerative disease. It does not discriminate based on ethnicity or gender. It advances slowly, but relentlessly and affects the whole family.

THE DISEASE. Huntington’s disease (HD) is a rare, hereditary, neurodegenerative disease that typically strikes during mid-life, between 35-55 years old, and is characterized by voluntary and involuntary motor movements, behavioral impairment and cognitive decline, leading to complete dependence, and ultimate death after a slow but unrelenting progression over two decades. Every child of an affected parent has a 50% chance of inheriting the mutated gene and therefore developing the disease. There are treatments for some symptoms of the disease (motoric and psychiatric symptoms), but no therapies slow it or prevent their ultimate demise.

Personality & mood changes...
Early signs and symptoms can include irritability,  depression, lack of motivation, poor coordination, lack of focus, and trouble learning new information or making decisions. These signs can appear years before motor alterations. At times, personality changes are noticed by family members.
As the disease progresses...
Involuntary movements will make affected individuals have trouble walking, speaking, and swallowing. The movements can be very severe and impact their quality of life. Individuals will experience more mental changes and a decline in their thinking and reasoning abilities, leading to loss of employment.
Fatal outcome
Individuals with the adult-onset form of Huntington’s Disease usually live about 15 to 20 years after signs and symptoms begin. Individuals become completely dependent for care, as they experience an inability to stand, speak or eat by themselves and lose body weight. A fatal outcome will inevitably arrive if she or he lives long enough.
The Gene
Latin America holds a special place in the scientific history of HD. In 1993 an international effort first identified the mutations causing Huntington’s disease in the large number of related, affected people living in the Maracaibo region of Venezuela.
Because of the discovery of the gene that causes HD, today we have advanced several therapeutic programs to clinical trials targeting the mutant gene. Factor-H founders are scientists and clinicians leading these efforts, and hope to bring new therapies to affected communities everywhere.

Here are some numbers

Families supported by Factor-H & affiliated organizations

Zulia, Venezuela

More news about the disease