The list of rare diseases is almost endless. To date there are at least seven thousand identified but it is estimated that there are more. To be able to enter this classification the World Health Organization (WHO) indicates that at least five cases must be presented for every 10,000 inhabitants. Although being infrequent, their treatments are usually too expensive and that prevents most patients from accessing them. It is precisely in this group that hypophosphatemic rickets is found.
This disease has a very low incidence and it is likely that most doctors will never see such a patient. Although in our country the Institute of Social Security and Services for Government and Municipal Workers of the State of Baja California (ISSSTECALI) is one of the pioneers in dealing with cases.
The director of the institution, Dr. Dagoberto Valdes Juárez, mentions that to date he is one of the few in the country that offers treatment to patients with this X-linked disease (XLH). It is considered as hereditary, progressive and chronic skeletal, characterized by the renal loss of phosphate that causes deficient bone mineralization.
Based on what little is known, hypophosphatemic rickets is inherited in an X-linked dominant manner. Each child has a 50 percent chance of inheriting XHL, regardless of sex. The patient’s family history is considered for the diagnosis; however, approximately 20 to 30 percent of cases can arise spontaneously.
For Valdes Juárez, it is a pride that treatments such as the one offered by ISSSTECALI are an example of providing cutting-edge services and innovation to protect health and improve the quality of life of the beneficiaries and their families.
“We are extremely proud that ISSSTECALI is the first Medical Services Institute to provide this treatment and to know that with it we can change the life of a little girl and her family members. We are aware that it is necessary to reinforce the mechanisms of access to therapies that guarantee the health and quality of life of patients and that has distinguished our Institute since its creation ”.
He added that ISSSTECALI was created in 1958 and since its creation it has established itself as an efficient, avant-garde and accessible Institution for its beneficiaries, which addresses their medical challenges supported by state-of-the-art technologies and with innovation as the guiding principle.
How many rare diseases are there in Mexico?
On the other hand, one of the best news of this year is that the General Health Council (CSG) will carry out the First National Census of Patients with Rare Diseases in Mexico. It will take place from October 1, 2021 to January 15, 2022 and will provide for the first time information for the construction of a national registry that will be public.
All patients can enter their information in the virtual platform available at this link. For registration, participants only need to have their Unique Population Registration Code (CURP) and data on the disease they suffer, from which the capture and identification of patients will be carried out.