Every February 28, the world commemorates the World Day of the Rare Diseasesa date that brings to the fore more than 300 million people living with one of the nearly 7,000 rare pathologies described to date.
Although individually they affect a small number of patients, together they represent an important health challengemarked by late diagnoseshigh-cost treatments and a strong emotional impact and economic in families.
“The rare diseases they demand of us a state view. These are not just clinical protocols; it’s about guarantee rights“said the Minister of Health, Victor Atallahin the central words of the epidemiological bulletin corresponding to week number 6.
It is estimated that around 70% of these diseases have genetic origin and that more than 50% manifest in childhood, which underlines the importance of early diagnosis to prevent disability, irreversible complications and avoidable mortality.
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In regions such as the European Union, pathologies with a prevalence of less than 5 per 10,000 inhabitants are considered rare, while in other contexts the threshold is less than 1 per 2,000 people.
“Behind every diagnosis there is a child, a mother, a father, an entire family that faces uncertaintylong processes diagnoses and, in many cases, complex treatments and high cost,” Atallah added.
Although there is no exact record of rare diseases in the country, Dominican Republic is not alien to this reality. The diagnosis of a rare disease can take between two to eight years.
“We know that these conditions represent a health challengebut also social and emotional. Many families live the weight of underdiagnosisespecially outside the large specialized centers, and they have to seek therapies, comprehensive follow-up and psychosocial support“said the official.
The most common among the rare
In the local context, the work developed by the Pediatric Hospital Dr. Robert Reid Cabral, through his Diagnostic Clinic and the Clinic Cystic Fibrosiswhich have contributed to the identification and monitoring of multiple rare diseases.
Among the most reported in the country are:
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Galactosemia
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Congenital hypothyroidism
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phenylketonuria
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Cystic fibrosis
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Various lysosomal storage diseases such as: Gaucher, Fabry, mucopolysaccharidosis and Pompe
They are also documented muscular dystrophies, hemoglobinopathies and neurological disorders rare
Most of these pathologies have no definitive cure, so treatment focuses on symptom control, prevention of complications and rehabilitation.
A relevant advance has been the promulgation of the Law 14-24 of Neonatal Screeningwhich makes it mandatory to screen all newborns to identify congenital and metabolic diseases.
This measure seeks to shorten the time to diagnosis and expand the opportunities for early treatmentalthough its implementation faces logistical challenges and financial.
Expert voices
Pharmaceutical specialists, associated with the Central American and Caribbean Federation of Pharmaceutical Laboratories (Fedefarma), call on governments, the productive sector and patient organizations to take measures to advance in the detection of diseases, share data and offer therapies for diseases. rare diseases that improve the quality of life of people who suffer from them.
“Address the rare diseases requires a shared visionbut also sustained over time. Where both scientific innovation and public policies and, of course, the voice of patients, converge and together we can build health systems that are more inclusive and equitable, in order to impact the lives of patients, their families and society in general,” he said. Veronica Hernandezmedical director of Merck Central America and the Caribbean.
“A late diagnosis It means that patients typically bounce around the healthcare system for up to three years or more. To diagnose these diseases we need a more specialized level, such as genetic testingcomputed axial tomography (CAT), magnetic resonance; that is not at the first level of health care,” he highlighted Tatiana Villegasmedical director of ethics and compliance Ferrer.
According to Villegas, this delay in diagnosis makes the patient much more advanced in their disease. So, some of the medications by being focused on early stages or moderate of the disease do not have the same effect in already very deteriorated patients.
For her part, the director of Fedefarma for the cluster Dominican Republic and Panama, Carmen Silvastressed the need for health systems incorporate innovative mechanisms into their budget planning that allow sustainable financing of targeted therapies to rare diseases.
Law on rare diseases?
In the case of Dominican RepublicDa Silva valued the initiative currently under discussion in the National Congress as a relevant opportunity to comprehensively address the rare diseases.
This bill about rare diseases in Dominican Republicdriven by the Dominican Alliance of Patient Associations (Adapa), seeks to establish a comprehensive legal framework for timely diagnosis, specialized treatment and national registry of patients.
“Although there is still no specific law, the legislative debate represents a strategic window to incorporate from your design modern tools financing and access that guarantee sustainability and equity over time,” said Da Silva.
