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situation of those affected by rare diseases Spanish

(source: ELPAIS.com (Laura Contreras) )

According to statistics, 76% of patients from rare diseases have felt discriminated against. -Cuñado doctors found no cure or treatment, there is only support from family and friends.

Here a particular case. This is Natalia Suárez, 27, who is choking. Your diaphragm is not strong enough to get oxygen to the lungs. Suffers from a neuromuscular disease of unknown etiology (no name) that, like other rare diseases, are rare in the population (at least one case per 2,000 inhabitants). So now has 19 visits to the ICU (Intensive Care Unit) in less than four years. " Until I'm serious, no one acts. We no longer ask you know what I have and give me a solution, I just want to treat me well when I have a symptom and unwell "he says.

The English Federation for Rare Diseases (Feder) estimated between 5,000 and 8,000 types of diseases, such as this twentysomething Canarian affect over 250 million people worldwide . In Spain there are three million (and their families), between 4% and 8% of population, who suffer the helplessness of not knowing how and where

be different listed diseases as rare.

This is the first obstacle: the lack of knowledge among health professionals. This is compounded by lack of support and benefits because they lack an assessment of dependency and the difficulty to access the products and treatments needed. 51% of households have trouble getting to those considered orphan drugs.

So 76% of those affected by a rare disease feels discriminated against by their disease in the field of education (30%), in their free time and leisure (32%), activities of daily living ( 29%) and healthcare (32%), according to the first study Needs Socio Spain (Seriously) drawn between Feder and Caja Madrid . Natalia is clear where he suffers the most: "I get very sick when I think twice about going to the hospital or how badly they treated me. It's hard, but sometimes I doubt: I want to die or not?".

UCI home

This young lives plugged into an oxygen pump during the day and sleeping on a ventilator, has a 49% vital capacity, "below normal", the strength you need to do your body to breathe. Degenerative disease begins to affect also the food: "I'm going to a speech therapist because I have trouble swallowing up the water, my throat is failing ".

First he was diagnosed with bronchitis, doctors said, had made his debut in asthma. But soon refer you to psychiatry." As the doctors did not give my pathology they told me I had a mental problem, "complains Natalia. Diagnosis has not changed, although the psychiatrist gave a positive assessment of the patient." And that my psychiatrist is a specialist in psychosomatic illnesses (the patient plays a disease that has a priori).

says it can not lead a normal life (he has a disability recognized 100%), even had to leave work as an educator at a psychiatric center in Barcelona and return to Las Palmas, where he lives with his family. "If not for them I would have gone crazy, but really," he says, without losing the sense of humor.

Sotos syndrome

20% of those affected takes more than 10 years to be diagnosed, according to the study of the Feder. Monica Rodriguez was lucky: only had to wait eighteen months. Doctors diagnosed his daughter Mary, six years, Sotos syndrome, a condition also known as cerebral gigantism. "

"The worst thing is that my daughter realizes what is happening, because it has a large mental retardation, and I always wondered why is the longer it takes to do their homework, "says Rodriguez, who heads the English Association Sotos syndrome . People with IBS show rapid growth from birth. ("Maria measuring 55.5 inches at birth"). This rapid development is often accompanied by delays in speech, movement ability and learning difficulties.

"Everything for her is an effort: take a pen, get out of bed ...", says the mother, who has been betting on physiotherapy, speech therapy and motor stimulation since her daughter was a baby. "Three hours after school," he details. A routine too stressful for a child: "He comes home rendered. In all this activity must be added the vest that carries most of the time, to correct scoliosis [deviation column] caused by the disproportionate growth of their limbs." Rodriguez says that despite "this daily struggle," shows Mary the positive part of all: "I always try to see the skills he has, and no limits."

rare diseases plan of the English Government.

The Government approved in 2009 plan to develop, during 2011 and 2012, a series of actions in health, scientific and socioeconomic serve as a response to requests from the Feder: "We want our country there is a national game for research and care those affected as has happened in other European countries like UK or France. "

dimension focuses on health screening techniques for early diagnosis of these diseases. For this, the Ministry of Health envisages the organization of training activities in the Primary Care and Hospital, directed primarily to pediatricians, in addition to going to schools to sensitize children and faculty.

Health has announced that it continues its commitment to research on orphan drugs, those who have not been a priority for pharmaceutical companies because of lower trading range, with total funding of 70 million euros in the last four years. Among other measures, the plan proposes the possibility of establishing up to 140 potential sites as references the National Health for rare diseases .

On the academic front, a group of experts will focus on improving understanding of the frequency of these diseases for planning your care and the creation of a national registry that allows to know exactly how many people are affected by each of rare diseases.

This new strategy was developed by consensus among the regions, scientific societies and patient associations.

(LC).