When a disease affects few people

When a disease affects few peopleAre around 7,000. Rare diseases increase progressively identified, although their number is already very high. Those who are suffering from different diseases, but common shortages. The list of these needs is very broad. On paper there is a strategy and priorities, among which the creation of reference centers to diagnose and treat these diseases, as well as the shared desire by the victims and their families that promotes applied research aimed at finding a cure, compared to basic research that prevails today.

The first time I talked about Rare Diseases was in the U.S. in 1977. Since then, they have identified about 7,000 and, thanks to advances, there has been a real boom of the census of these pathologies. Steadily, identify new genes involved in its development. The result is that detect and recognize new diseases that so far only considered different symptoms, according to Isabel Campos, member of the Spanish Federation for Rare Diseases (ERDF), board member and spokesman in the Strategy Rare Diseases National

Between 75% and 80% of these rare diseases are caused by an alteration in the genes, while 20% -25% are autoimmune diseases, such as scleroderma or lupus erythematosus (LES). However, Campos points out, in addition to those affected, 3% of the DNA of all individuals is mutated and all people aged between 8 and 10 altered genes that could cause the development of a rare disease.

Most of these diseases are recessive inheritance, ie the mother or the father, never the two-transmit the causative gene, and for this reason, most people do not suffer. There are few dominantly inherited diseases, in which both parents transmit the mutated genes. This explains why diseases are of such low incidence as to merit the appellation “rare.”

In Spain, FEDER, established since 1998 and brings together some 200 associations, sailing for the many needs of these people. On average, it takes between 5 and 10 years for a diagnosis of the problem suffered and, when they receive it, have to live with many difficulties. “But despite having very different diseases, those affected have many common needs,” remarks the representative of ERDF.

Chronic, untreated and under-insured health

Much of these diseases are chronic and have no cure. Currently, only about 50 have been developed orphan drugs -Name that designates the drugs used to treat-an insignificant number considering that there are about 7,000 diseases, reporting Campos. Given this lack of pharmacological remedies, sometimes patients are treated with drugs indicated for other diseases, it has been demonstrated that can improve your quality of life. Doctors are administered in hospitals for compassionate use.

However, the high cost of these products and the fact that medications are designated for other pathology, limited treatment options. For this reason, FEDER advocates the creation of a national hedge fund to finance the payment of these products. Some patients need not only drug treatments, still designing, but also other types of care.

Those affected by skin diseases such as epidermolysis bullosa “Extreme fragility of the skin, which has been compared to that of a butterfly and that especially affects children, need sunscreen moisturizers, for health reasons, like drugs. ERDF argued that Social Security will cover these products for people diagnosed or suffering from another disease of low incidence and regularly require the use of sunscreen.

Similarly, in neurodegenerative diseases or neuromuscular rehabilitation maintained over time is a necessity because it improves the residual capacities of patients and prolonged their status of autonomy. If rehabilitation treatment is delayed four or five years may mean that patients have already used a wheelchair.

In this regard, ERDF requested to amend the Law on Cohesion and Quality of the National Health System, which currently provides rehabilitation treatment for people with functional deficit recoverable (such as after an accident), and extends chronic rehabilitation affected by rare diseases. Otherwise, reports Campos, these patients suffer from double discrimination for being chronically ill and having a rare disease.

Applied Research

More research, but applied. This is another of the claims of those affected, as the research done today is basic, ie, in search of the mechanisms that cause disease. Patients need to go further, that research is directed at finding a cure or improve their quality of life. “It is essential to investigate the idea of healing and not just the genes affected,” said Campos.

To achieve this, we must achieve a “change of mentality of researchers, to develop therapeutic drugs against these targets, he says. In those caused by a gene, such as Friedreich’s ataxia, the curative solution could come from the replacement of the defective gene (gene therapy), to be introduced into the body through an agent vector. In other polygenic or multifactorial diseases, we must seek other solutions in therapy or at least improve the quality of life of those affected.

Another important measure to promote applied research, according to ERDF, is to provide tax incentives for biotech companies and pharmaceutical companies with the capacity to develop innovative therapies, reports Campos.

REFERENCE CENTRES AND REGISTRATION

The willingness of some doctors who have specialized in various rare diseases has led to the creation of centers. However, they can not rely on a single professional altruist whose retirement or death have a negative impact on patient care and, moreover, these “super special merit recognition for his work, says Isabel Campos.

ERDF has long claimed the provision of facilities, services and referral units, where patients can undergo all necessary diagnostic tests on the same day and receive a diagnosis as soon as possible. Centers should be to encourage their participation in clinical trials of interest, ensuring access to a specialized multidisciplinary care quality and help to any doctor to know the route most appropriate action for each patient diagnosed. The intent is to “harness the resources already available, offer them, and give them the recognition they deserve for professionals working in them,” said Campos.

Finally, one of the aspirations of patients is to draw up a register of affected people in Spain. All these questions are part of the National Strategy for Rare Diseases, adopted in 2009, although the representative of ERDF ensures that the decentralization of health services in 17 regions and having to talk to 17 different partners slows implementation. Favor a single health system in these patients.

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