Madrid
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February 29th is International Rare Disease Day. A date that is not on this year’s calendar, as it is not a leap year, and that was chosen to make these diseases visible because it is a ‘rare’ day. Huntington’s, or Huntington’s chorea, is one of the more than 7,000 rare diseases that exist. one especially hard and without cure, with symptoms ranging from involuntary movements to dementia, and whose affected demand visibility and resources on this date.
About 4,000 Spaniards suffer from Huntington’s and 15,000 may be carriers of the responsible gene mutation. It is an inherited disease: if the father or mother has Huntington’s disease, children have a 50% chance of inheriting it.
“Everyone knows a rare disease such as ALS (amyotrophic lateral sclerosis), but Huntington’s is still very unknown, despite being much more common,” explains the president of the Spanish Korea Huntington Association (ACHE), Ruth White. It is “one of the least rare diseases among the rare”, corroborates the neurologist at the Ramón y Cajal Hospital, José Luis López Sendón, a reference in this disease in Spain.
Few healthcare resources and specialized centers
Dr. Sendón considers that the Increased healthcare resources is the main area to improve for Huntington’s patients in Spain: “Patients have limitations in accessing adequate psychological and social support care.” The president of the ACHE, Ruth Blanco, points to the lack of centers with the necessary specialization to take care of these patients after diagnosis: “Not all centers, no matter how willing they are, have the capacity to deal with these patients. They are a challenge.” His Association has “four or five centers” of reference to which they refer the sick because “the fact that there is no cure now does not mean that there does not have to be a treatment,” Blanco recalls.
One of those centers is ORPEA Madrid Mirasierra,center specializing in rehabilitation and one of the few references in Spain in rare diseases. The center has a dozen Huntington’s patients. “What makes you specific? Have more than one patient. The learning. Concentration is the trend and what experience gives us“, Explain the medical and rehabilitation director of ORPEA Madrid Mirasierra, Carmen Mateos.
Address specific symptoms
The doctor Mateos explains the need for a multidisciplinary team, coordinated and accustomed to these patients: “The occupational therapist has to work on the patient’s autonomy, taking into account the involuntary movements typical of chorea. Also the physiotherapist, when working on the ability to balance or walk first and, in more advanced phases in which the patient, prevent complications of prostration and bedridden situations, apply respiratory physiotherapy. The speech therapist has to treat swallowing and speech problems. The neuropsychologist treats both the behavioral symptoms and the cognitive sequelae, from a personal and family approach, and attending to the different stages through which the patient is passing».
Dr. Sendón recalls the harshness of the symptoms of this disease that requires such specific attention: motor failures such as “problems swallowing, speaking, chorea -excessive involuntary movements (which gives the disease its name and usually allows it to be identified)-“, psychiatric or behavioral problems that can lead to “depression or suicidal ideas” and cognitive, which begin with “failures in memory processing or in the execution of complex tasks, and that progressively lead to a type of dementia that can cause great disability.” Symptoms can manifest around the age of forty.
Many of those with Huntington’s disease are often included in resources and senior centers, which negatively affects their mood: “The institutionalization of these patients occurs at a critical age, in the prime of their lives, children. Due to age, that the institutionalization is in a place where there are young people, even if not all of them have Huntington’s, is already a point in favor”, points out the medical director of ORPEA Madrid Mirasierra, Ruth Blanco, agrees: “It is our battle horse”, in reference to the fact that there are specific resources and that these patients are not referred to centers for the elderly.
Stigmatization
From the Spanish Korean Huntington’s Association, they point to “stigmatization” as another big problem. At a social level, ignorance causes some symptoms to confuse a Huntington’s patient with a drug addict and “his social guilt”.
Being a genetic disease, a diagnosis often also involves “a stigma” within the family itself by “opening Pandora’s box”, according to the president of ACHE. However, she points out that there is a great difference in how the disease is dealt with depending on whether there was already a case and it was previously known or had never been heard of: “There are families in which a person has seen their father-in-law die, their husband and their son test positive.”
The president of the Association recalls that “Hungtinton’s disease has a suicide rate that is five times that of the general population and the high points of risk are diagnosis and when symptoms appear.” Reporting the diagnosis is so delicate that there is a protocol and genetic advice that all hospitals must know so as not to make “this decision that will change life” if the person is not prepared. A preliminary assessment is made, during which the doctor does not know the result, and the opinion is not opened to find out if it is positive or negative until the professional considers that the person is ready.
In search of a cure
At the moment, Huntington’s disease is a treatment orphan disease because no trial has been successful in slowing down its progression. Currently research projects and clinical trials to find a remedy are international. They are carried out jointly in the United States and Europe, also in Spain, generally promoted by the pharmaceutical industry and arousing growing interest among patient associations and the medical community.
Although Dr. Sendón does not want to make any predictions and recalls that at the moment none has borne fruit, he does point to a difference in the next decade compared to ten years ago: “Currently, there are some genetically determined diseases with mechanisms of action parallel to Huntington’s disease that already have treatment”, so, adds the neurologist, “we are close to being able to treat the biological origin of this disease by directly influencing the DNA or RNA” with targeted therapies.
While this longed-for cure is achieved, the president of the Spanish Korea Huntington Association recalls “You have to start with the basics”, that there is the possibility of having children free of this Huntington’s disease by accessing a genetic diagnosis treatment”, covered by social security. The goal is “to prevent the disease from continuing to manifest itself genetically generation after generation.” «It has been almost 20 years since the first time that a child free of Huntington’s disease was achieved in Spain. And that is a triumph that we should value and we should continue promoting as one of the tricks to end the disease, “he concludes.
Moving Forward
Precisely the Korean Association of Spanish Huntington promotes the initiative of the European Association of Huntington Moving Forward – Towards a future with effective therapies to modify Huntington’s disease. This initiative, which will celebrate shis first meeting in Spain on May 7, seeks to mobilize the community of patients and patients of Hungtinton with the aim of participating in studies and trials. Despite the fact that several new drugs and therapies are being developed and tested over the last decade, there are still no effective treatments available that can modify the course or stop Huntington’s. The associations believe that clinical progress will only be possible if patients and families show an active, informed and lasting commitment to research.