In Mexico, around 10 million people live with a rare disease, according to the Mexican Network for Rare Diseases (ReMexER), but the path to obtaining an accurate diagnosis and appropriate treatment can take years.
There are more than 7,000 rare diseases worldwide, and as technology advances and genetic knowledge improves, many more are expected to be recognized, explains Carlos Mares, a pediatric metabolic geneticist and specialist in rare diseases.
However, the list of rare diseases published by Mexico’s General Health Council only includes 23 such conditions, although it also recognizes rare diseases incorporated into the classification of the World Health Organization (WHO).
According to the Ministry of Health, a disease is considered rare or uncommon when it affects no more than five people per 10,000 inhabitants. ReMexER reports that 80% of these diseases have a genetic basis.
“Diseases are rare until you or someone in your family has one,” says Carlos Mares. “As physicians, it is very frustrating to see so many children and patients without a definitive diagnosis because they cannot afford a genetic test.”
María José Estrada and Luis Miguel Sánchez are the parents of Juan Diego, a 2-year-and-8-month-old boy facing a rare disease: Niemann-Pick Type C (NPC).
A year ago, Juan Diego obtained a diagnosis thanks to a genetic test his parents paid for privately after seven months of consulting specialists. In Mexico, however, obtaining a diagnosis for a rare disease takes about eight years on average, and patients typically visit six or more specialists before receiving one.
Currently, Juan Diego’s family is fighting to gain access to the medication their son needs through the Mexican Social Security Institute (IMSS). “The medication is what keeps our son alive,” emphasizes María José. “And it is worth fighting for what is worth living for.”
What Is Niemann-Pick Type C?
Niemann-Pick Type C is a genetic metabolic disease, explains specialist Carlos Mares. This means it is caused by a defect in DNA.
The primary problem is that cells cannot properly metabolize or transport certain fats, causing them to accumulate inside cellular compartments called lysosomes.
This leads to progressive damage in various organs, especially the central nervous system—the brain—but it can also affect the liver, spleen, and intestines. It is considered a multisystem disease, meaning it affects multiple organs and body systems.
The disease can manifest through developmental delays, motor problems, speech difficulties, swallowing problems, seizures in some cases, progressive cognitive decline, and enlargement of the spleen and liver in certain patients, Carlos Mares explains.
They Are Asking the Government for Access to the Medication That Keeps Their Son Alive
After receiving the diagnosis, Juan Diego’s parents went to the National Institute of Pediatrics, where they learned about a medication called Miglustat, included in the National Compendium of Health Supplies as a treatment for NPC.
A disease is considered rare when it affects no more than five people per 10,000 inhabitants.
However, because they are beneficiaries of the Mexican Social Security Institute (IMSS), they were redirected to that institution to obtain the medication. To date, Juan Diego’s parents are still in the process of securing the treatment through this route.
It took six months for them to obtain an appointment with a high-specialty physician within IMSS, and they are now undergoing evaluation to determine whether they will receive the medication. If it is denied, they may seek legal protection through an injunction.
Additionally, the process for acquiring this medication is slower because it is not included in the Institutional Health Supplies and Pharmacovigilance Lists (formerly Basic Formularies). For this reason, Juan Diego’s family began a process through the Chamber of Deputies of Puebla to have it included so that patients who need it can gain timely access.
Meanwhile, every month that Juan Diego goes without the medication directly impacts his lifespan. As a result, his parents have had to obtain it privately and pay for it through insurance, which still requires monthly payments of approximately 20,000 pesos.
Later, they learned about another medication, Miplyffa (arimoclomol), which, in combination with Miglustat, is approved to treat neurological symptoms associated with NPC. This medicine was approved by the U.S. Food and Drug Administration (FDA) in 2024 but is not yet available in Mexico.
“Imagine waking up every day knowing there is a better medication for your child, one that can give him quality of life, that can give him life, and you don’t have access to it. I wouldn’t wish that on anyone,” said María José Estrada.
The family managed to obtain a humanitarian donation from the pharmaceutical company Zevra Therapeutics, and another donor has helped cover their monthly transportation to the United States. This has allowed Juan Diego to continue treatment with the new medication, but his parents do not know how long the donation will last, and the medicine costs approximately 800,000 pesos.
“Since he started taking Miplyffa, he can crawl without falling, identify colors, and cognitively he is much better,” Juan Diego’s parents explained. Medical studies have also confirmed a real reduction in fat accumulation in his organs.
Carlos Mares explains that, because the medication is relatively new, information remains limited. However, he notes that patients who received the treatment showed better results on the scales used to evaluate NPC—particularly neurological criteria—compared with those who did not receive it.
For this reason, they are now asking the Federal Commission for Protection Against Health Risks (Cofepris) to allow the medication’s regulatory registration in Mexico on humanitarian grounds.
Lawmakers Seek to Create a National Registry for Rare Diseases
In February 2026, legislators in the Chamber of Deputies presented a proposal to the Health Commission requesting the creation of a National Registry for Rare Diseases.
“It proposes the creation of such a registry as a strategic tool to generate reliable data that will improve the detection, treatment, research, and visibility of these conditions,” the proposal states. It has not yet been approved.
Juan Diego’s family emphasizes the need to establish a census of rare diseases in Mexico and create a standardized protocol for early detection. Limited access to genetic testing and a lack of awareness of these diseases make detection more difficult, Carlos Mares explains.
“No one recognizes what they do not know,” he adds.
For example, there is no registry of the number of NPC patients in Mexico.
“There are many patients who have never been diagnosed or who have died because NPC is unfortunately a fatal disease. Many die without ever receiving a definitive diagnosis.”
In response to this issue, Juan Diego’s parents created the Mexican Niemann-Pick C Network, a project that aims to build a patient database, connect families, link patients with physicians who understand the disease, and establish support groups.
A disease is considered rare when it affects no more than five people per 10,000 inhabitants. Juan Diego’s parents are fighting to secure the medication that keeps their son alive.
“María José often says that it is worth fighting for what is worth living for, but to keep fighting, you have to maintain hope. And to maintain hope, I think it is important to have the people you love close to you, to have that support network, and to focus on the good things,” reflects Luis Miguel Sánchez, Juan Diego’s father.
Juan Diego’s family continues to fight to obtain the medications that keep their son alive while also working to ensure they become available to other families facing this disease.
Source: grupoanimal
