Huntington's Disease Relief Society
The Huntington’s Disease Relief Society, a member of the European Huntington’s Association, strives to raise awareness and provide all-round help to Huntington’s patients, relatives and those at risk.
The Society for the Support of Huntington’s Disease (SPHCH) was founded on August 1, 1994 to inform patients and their families about the nature of the disease, its inheritance, options for genetic diagnosis, treatment and care for patients and family members, as well as to create a support group for all involved. The Society is currently resuming its activities, having been suspended in 2016, and it was not until the end of 2019 that a change was initiated that should allow further work to continue.
The necessary outreach is also currently being pursued by SPHCH by establishing a collaboration with the European Huntington’s Disease Association (EHA), which is providing the necessary support and supervision.
SPHCH is also trying to include Slovakia in the Enroll-HD programme so that any new studies do not bypass Slovakia and so that Slovakia is part of this worldwide movement towards a cure for Huntington’s disease.
„According to statistics, there are approximately 540 people with HD in Slovakia. Our effort is to inform them and to help them in every possible way. It is not an easy task, but I believe that with the support of our members and the new hope brought by new technologies such as CRISPR (gene editing), we will be able to achieve the goals that I have set for myself, which is to minimize the transmission of this disease to the next generation and cure all people suffering from this disease through education and the possibilities of artificial insemination.“
What is Huntington's disease ?
Huntington's disease is a genetic disease, which means it is inherited within families.
The gene that causes Huntington’s disease is normally responsible for the production of a protein called Huntingtin. It is found in cells throughout the human body, but most commonly in the brain and spinal cord. If the gene is wrong, it causes clumps to form in the cell, which impairs the function of that cell.
The part of the brain where the damage most often occurs is called the basal ganglia and is responsible for controlling body movement. Therefore, symptoms of Huntington’s disease include problems with movement, thinking and emotions (often seen as behavioural changes).
Huntington’s disease is a progressive disease, which means that the patient’s condition worsens over time. It has 3 phases. (Sometimes 5 phases are given in the literature).
In 1872, a 22-year-old American doctor, George Huntington, published a study of the disease – he gave it the name Huntington’s disease. The term means „to dance, to dance“ and comes from the involuntary movements that often accompany the disease. Today, the name Huntington’s disease is used because it is accompanied by other symptoms. They are usually manifested between the ages of 35 and 40.
Effective treatments for Huntington’s disease are not yet known, but research is ongoing and progress is significant. Common treatments today include relieving the patient’s symptoms.