With such inclusion, the quality of life of the patients would be increased, who could even be incorporated into a job source.
The Morquio syndrome is an incurable genetic disease of metabolism and classified as? Rare Disease? since it affects a small percentage of the population, and although the patients do not see their intellect altered; This disease has a significant impact on the cardiorespiratory and skeletal systems, progressively leading to disability.
This disease is detected when, due to a mutation, an enzyme necessary to break down a type of sugar called mucopolysaccharides does not work properly or exists in very little quantity. This causes these sugars not to be broken down and accumulate within the body’s cells, generating a great load of physical affectations that translate into great needs for attention by the health system.
Being a hereditary disease, the affected patient receives from each of his parents (even if they are healthy carriers) the gene-deficient for the referred enzyme. It is worth mentioning that, for each pregnancy, there is a 25% chance of having a child affected by this disease.
The physical implications also affect the family environment and the medical needs of the patients, because, due to the rarity of this Syndrome and the little knowledge on the part of the doctors of first contact, its diagnosis can take five years or more, causing an accumulation physical affectations that also reduce their family and social coexistence.
Despite the fact that treatment for Morquio Syndrome has been registered in Mexico since 2015; to date it has not yet been approved by the IMSS or the Seguro Popular. With this approval, the more than 100 patients diagnosed with this condition in the country could have the opportunity to access a better quality of life and even enter working life.
In alliance with the Mexican Federation of Rare Diseases (FEMEXER), Grupo Fabry de México IAP is joining efforts to remember the authorities, and the general population; that people affected by a Rare Disease demand the same attention and access to dignified treatment as anyone in Mexico; in addition to that, unfortunately; There is little medical and scientific knowledge in this field, which undoubtedly must be improved so that in the short and medium term these pathologies are no longer ignored by doctors, researchers and health authorities.