- Morquio Syndrome is one of the few rare diseases recognized in Mexico.
- Within the IMSS there are 30 registered patients.
- Although there is no cure, there are treatments, but they are not available to the right holders.
The list of different health problems that have been identified is endless. Unfortunately, those with low incidence are the least investigated. In this category is the Morquio syndromea neglected disease for which treatments exist but are not always available to patients.
Within the framework of World Mucopolysaccharidoses (MPS) Day, which is commemorated every May 15, the Grupo Fabry association of Mexico reiterated its complaint to the Mexican Institute of Social Security (IMSS). The reason is to demand the administration of Enzyme Replacement Treatment (the only therapy available in the world) for its 30 beneficiaries diagnosed with Morchio syndrome.
What does it consist on?
Mucopolysaccharidoses are a group of rare diseases of genetic origin that are characterized by the absence or deficiency of enzymes that participate in the metabolism of glycosaminoglycans (GAG) at the cellular level. This enzyme deficiency organic and systemic alterations that affect growth, mobility and especially musculoskeletal developmentexplains Dr. Luis Carbajal Rodríguez, head of the Rare and Degenerative Diseases Clinic of the National Institute of Pediatrics.
Morquio syndrome does not have any alteration in the central nervous system. Therefore, the cognitive ability of patients is normal; however, the bone malformations cause intense joint pain. The bony irregularity in the thorax stands out, which can cause cardiopulmonary failure, described as leading cause of death in patients with this condition.
The specialist highlights that there is currently no cure, but there is an Enzyme Replacement Therapy treatment. It helps stop the progression of MPS such as Morquio Syndrome, which can provide them with a better quality and life expectancy, highlights the specialist.
“In 2016, the General Health Council (CSG) included Enzyme Replacement Treatment in the basic list of medications. 5 Since then Grupo Fabry de México has tirelessly sought its administration for the 30 beneficiaries of the IMSS through arguments supported by national and international scientific evidence”, mentioned Lic. Alejandra Zamora, National Patient Coordinator of Grupo Fabry de México.
treatment for patients
In this sense, medical representatives of other Public Health institutions in Mexico, have shown the convenience in the application of Enzyme Replacement Therapy in patients with Morquio Syndrome. Unfortunately, this evidence has been and continues to be dismissed by the IMSS, denying patients the possibility of a better quality of life.
An example of the convenience of this therapy is the clinical evidence from the National Institute of Pediatrics, where Dr. Carbajal treats 9 patients with Morquio Syndrome, who have been given ERT for two years with good results, especially in those who were diagnosed and treated early.
“In patients with treatment, gross motor skills have been favored, which allows them to have greater independence in daily life. For example, they can eat by themselves, bathe by themselves, walk, pick up objects, there were even patients who were able to walk. Which translates into a better quality of life and well-being at the family level”.
Due to the above, Alejandra Zamora made a call to the IMSS authorities. The objective is to raise awareness so that Morquio Syndrome does not remain a forgotten disease. If a treatment already exists, it should be available to the beneficiaries to avoid a decrease in their quality of life.
Finally, for the required treatment, each patient needs a comprehensive medical follow-up. To do this, a team made up of paediatricians, geneticists, cardiologists, pulmonologists, otorhinolaryngologists, orthopedists, rehabilitators, pediatricians and psychologists is necessary.