Huntington's disease: From basic sciences to social and family issues
Contributed by William Fernandez-Escobar
Head, Movement Disorders Unit
Universidad Nacional de Colombia-Bogotá
Huntington's disease (HD) is a genetic disorder causing brain dysfunction, producing abnormal involuntary movements along with intellectual and psychological deterioration. The neurons which organize motor control at the deep brain nuclei begin to die progressively, and there is a 50% theoretical risk of transmission from generation to generation. The chromosome 4 localization of the disease was informed in 1983 and then in 1993, the chemical alterations were identified as excessive repetitions of the DNA triplets of bases cytosine-adenine-guanine (CAG). Despite the amazing progress in the knowledge about molecular changes and mechanisms of this disease, the search for successful treatments has been elusive, and HD patients continue struggling with a deterioration of quality of life.
As a neurologist working on Movement Disorders at Latin America (Colombia), attending the 7th Plenary Meeting of the European Huntington's Disease Network, in Stockholm, Sweden, this past September was a delightful experience, not only to share the biological progress improving the understanding of HD, but also to share with HD patients, relatives and volunteers. Although health services in Europe are recognized as high quality around the world, surprisingly, I found a touch of dismay and despair from patients.
The spokesperson for the Juvenile HD working group highlighted feelings of rejection and isolation (reminding us that in daily life, adults have to be prepared to receive criticism from younger people despite our best efforts). Charles Sabine gave a final address, which despite being more mature, pointed out again a sort of black or white world (being or not affected by HD mutation). In contrast, a physician from the United States with relatives affected by HD emphasized the commitment from healthy relatives and doctors.
Prof. Cristina Sampaio, MD, PhD, expressed her belief that in real life, medicine has big problems to offer the cure, even of very common diseases as diabetes or hypertension. Perhaps, we as human beings are always tempted to reject the threats of pain, suffering and death so vehemently that the shock against the reality of a short life and diseases causing a diminished quality of life is unavoidable.
David Lega’s lecture would have been a most instructive teaching. Being affected by a disease since early childhood which left him wheelchair bound, he has battled with courage and become a successful sportsman and politician. His philosophy of life stands on principles like these: 1) I do not pretend to be the best but always try to improve; and 2) We are always competing and comparing but the real struggle is not against others, but against myself.
My own reflection came to be more compelling when, back in my country, I realized again how often the health system tries to deny treatments, and establishes a barrier between patients and physicians. Most of South American patients could say: "How fortunate European patients are with their health system and pipeline research." But I feel that my conclusion cannot be: European patients have to see the extreme suffering of Latin American patients to be ready to appreciate the actual support they have. On the contrary, the challenge for Latin America is to improve the health care which sadly is never at the top of the political agendas as it should be.
The contrasts between HD patients' and doctors' points of view should not be barriers. This is a serious challenge and one which is at the heart of the patient-doctor relationship. We as doctors must be ready to improve our research and care. Patients must see in the doctor an ally. Neurology has not been a favorite specialty in medicine because doctors recognize it as a complex and often unfruitful area with few good results to show.
The last 20 years have shown robust progress in our specialty but we continue dealing with difficult problems to sort out. The answer should not be the retirement as sometimes I have seen when training residents of neurology. The answer to the complexities of HD challenges is research. How refreshing it is to enjoy answers such as those from Dr. Sara Tabrizi’s research.