Legislative Action Would Benefit Patients With Rare Diseases

Q: How will the cancellation of the census of rare diseases affect patients?

A: Most of us who work in the rare disease community are disappointed with the cancellation of the census, which would have later transformed into a registry. This initiative was supported by both the public and private sectors and aimed to provide precise information on rare diseases that is not available in Mexico.

The government has just recently announced the creation of the National Center of Health Intelligence (CNIS) that will concentrate all health information. It makes sense to have a central entity to manage health information and we are looking forward to this center resuming the census as soon as possible.

Although the census was an important initiative, there are still other actions to be implemented, such as legislative and accessibility strategies. The cancellation of the census is regrettable but it is not the only thing on which we need to focus.

Q: What policies are needed in the country to benefit those suffering from rare diseases?

A: We are living in a moment when the health agenda is being prioritized, shedding light on the numerous areas of opportunity. Prior to the pandemic, it was difficult to put health issues at the center of the conversation.

The centralization of the health system, promoted by the current administration, has shifted the attention to health matters.I have met with legislators from different parties and found a different level of involvement and interest on the topic. Initiatives and agreements are now being approved whereas, in the past, the topic did not pass beyond forums and good desires.

Q: What limitations are obstructing those with rare diseases from getting timely care?

A: There are numerous areas that require attention. For example, INSABI restricts treating some rare diseases if the patient is older than 10 years old when diagnosed. This is an issue that needs to be addressed by the legislative power because it is a problem originating from Seguro Popular’s norms.  

Another problem is that lysosomal rare diseases patients cannot easily access treatment because of the lack of accredited hospitals across the country. Currently, there are patients who are either not receiving treatment or who are traveling between six and eight hours a week to receive therapy in an accredited facility. Only half of Mexico’s states have accredited hospitals and only one state has five hospitals. Moreover, IMSS is extremely slow to provide therapies, delaying treatment in most cases. 

The sector has been working on the accreditation of hospitals. Through a legislative forum, we have successfully created an agreement that is passing through processes to become a law. If it becomes a law, states will be forced to have at least one hospital accredited for treating rare diseases.

Q: What has been the role of the private sector in expanding access to care?

A: There have been several collaborations between the public and private sectors. For example, at the beginning of the pandemic, hospitals did not have enough nurses because most of them belonged to vulnerable groups due to their age. In light of this scenario, we created alliances between private hospitals and public institutions, such IMSS, ISSSTE and the National Institute of Pediatrics (INP) to address the scarcity of human resources.

On another occasion during the COVID-19 pandemic, a private health institution collaborated with ISSSTE to ensure treatment accessibility for patients with rare diseases. This alliance gave patients the opportunity to continue their therapies despite the sanitary crisis. These collaborations demonstrate the opportunities to create synergy between the two sectors.

Q: What initiatives have been implemented to ensure an early rare disease diagnosis?

A: It all starts with the education of doctors. Rare diseases are not receiving the necessary attention because medical students only receive a few lessons related to these illnesses. This is a problem because rare diseases affect multiple organs, making it harder to diagnose. There is limited knowledge on which symptoms, in combination, could point to a rare disease. For example, a hernia in a patient of short stature with recurrent respiratory infections could be caused by mucopolysaccharidosis.

Without this knowledge, patients suffer because doctors cannot identify rare diseases early on. On average, a patient receives a rare disease diagnosis after seven or eight years.

Our mission is to give doctors the diagnostic tools to identify rare disease patients and provide an early diagnosis. Apart from the educational tools, we also offer them the foundation for diagnostic tests. We want to provide knowledge in all stages of the patient’s journey.

Q: What is the role of patient associations?

A: We, as an industry, are regulated under an ethical code that does not allow us to be in contact with patients. Patient associations are quite crucial due to the fact that they can contact patients any time, and offer all the necessary support for the patients, they represent a real help to make easier their pathways to diagnostic and treatment.

Q: How can the pharmaceutical industry integrate Mexico’s large genetic diversity in its clinical research?

A: These opportunities could be leveraged through industry agreements with INMEGEN, UNAM, among other research entities. Working closer with authorities such as COFEPRIS can help to make easier the decision-making process.

Q: Studies for rare diseases are scarce. What is needed to boost this field and make it more attractive for professionals and students?

A: An incentive based on research grants funded by CONACyT or other public and private partnerships. In Mexico we have a big opportunity on this matter because we have new generations of health professionals interested in the topic and the number of patients across our country is bigger compared with other countries.