“It is time for Huntington’s disease, as well as other highly complex diseases with a strong psychological, social and even economic impact, to leave the family dimension and become a public issue, not only in the health sector, but also in terms of work, integration and last but not least communication, because the diffusion of correct ideas is the best support for the implementation of valid actions “. With these powerful words the senator for life Elena Cattaneo – she who has dedicated her career as a researcher to this rare disease, standing out internationally – hailed the birth of the White Paper “Huntington. From a family affair to a public issue”, The first on this pathology. A volume written by the Huntington community with the support of Roche, edited by the Rare Diseases Observatory and with the contribution of the Italian Association Còrea di Huntington Roma OdV, Huntington Onlus-The Italian network of Huntington’s disease and the Italian Huntington Research League Foundation (LIRH) onlus, created to make public opinion and institutions aware of the many clinical, welfare and work needs of the sick and their families. “Not surprisingly – adds Cattaneo – one of the strongest slogans in the world adopted by the Huntington community is’never hidden again‘”.
Huntington’s disease
There are at least 6,500 people in Italy with Huntington’s disease, a rare genetic disease of the central nervous system that is transmitted from generation to generation, usually manifesting itself in adulthood, between the ages of 35 and 45 (but there are exceptions). Huntington’s disease takes everything away: the symptoms are neurological, psychiatric, cognitive, and range from the typical involuntary and uncontrollable movements (Korea, which in ancient Greek means dance) to dramatic mood swings, from aggression to dementia , until the loss of autonomy. To give an idea, the American Scientific Society of Huntington’s Disease (HDSA) has described it as the combination of Parkinson’s disease, Amyotrophic Lateral Sclerosis and Alzheimer’s disease in the same individual.
“The mutation that causes Huntington’s disease is the same in all patients around the world,” he explained Caterina Mariotti of the Unit of Medical Genetics and Neurogenetics at the IRCCS Carlo Besta Institute of Milan. “It is a stretch of DNA made up of CAG (Cytosine-Adenine-Guanine) ‘triplets’ that stretch abnormally, producing a mutated form of the Huntingtin protein. What varies from patient to patient is the length of the expanded tract, and this has important consequences when 35 repetitions are exceeded: between 36 and 39 triplets some will get sick, perhaps in old age, and others not, but from 40 up the disease will certainly begin. The greater the number of triplets, the sooner the symptoms will arrive ”.
“Stigma has always accompanied this disease,” he added Anna Rita Bentivoglio of the Institute of Neurology, Catholic University of the Sacred Heart and Movement Disorders UOS, “Agostino Gemelli” University Hospital Foundation IRCCS of Rome. “Described imaginatively (the St Vitus’s Ball) or linked to demonic possessions due to the incoercibility of involuntary movements despite torture and threats, Huntington’s disease brought with it not only the burden of symptoms but also isolation, shame and misery, linked to an aura of guilt and misdeeds, fueled by bad scientific and literary production ”. Clinical and managerial complexity, stigma, fear, shame have historically meant that Huntington’s disease has historically been treated as a “family affair”, something not to be talked about on the outside. An attitude that, however, has only increased the needs of the sick and their families.
The first white paper on Huntington’s disease
The White Paper is the expression of a change of course towards the disease by, in primis, of patients and families, who have made it. However, the text also and above all wants to draw the attention of public opinion and institutions, so that they can know the needs of the Huntington community and take charge of them. Among the many needs, a multidisciplinary care that includes psychological support and psychiatric management, the availability of assistance both in the form of relief centers and home services – also drawing on the appropriations of the Recovery Fund – and greater recognition were identified as priorities. legal for the protection of patients and caregivers at work.
“This White Paper was born from the experience of many people who, with different sensitivities and roles, have always dealt with Huntington’s disease and it stands as a watershed because no one, especially at an institutional level, says they didn’t know”, said the Senator Paola Binetti, President of the Parliamentary Intergroup for Rare Diseases. “The fact that families take care of people affected by the disease, without a doubt with love and dedication, cannot exempt the health and social system from taking on its responsibilities. This volume must arrive in the Regional Offices where decisions on health matters are made, to ask for a reorganization of services as soon as possible, especially those of home care, so that neither the sick nor their families are left alone ”.
.