In Chiapas, rare diseases lack a state registry or official statistics to accurately assess their impact. However, when all these conditions are grouped together, they could affect at least 8% of the population, warned geneticist Iván Jiménez, who also highlighted the issue of late diagnoses, a shortage of specialists, and high healthcare costs.
“If we add them all up, at least 8% of the population has a rare disease,” the specialist pointed out, explaining that these conditions are defined by their prevalence: one case per 2,000 people or fewer, and can even be considered ultra-rare when they affect one person in 100,000 to one million.
In Chiapas, as in the rest of Latin America, the main obstacle is the so-called “diagnostic odyssey.” According to the geneticist, from the onset of the first symptoms to obtaining a diagnosis, up to 10 years can pass, and the patient may consult with up to 14 different specialists.
“Usually, 70% of rare diseases are found in childhood,” he explained. The first signs often manifest as global developmental delay, seizures, regression in acquired skills, or neuromuscular abnormalities. Among the examples he mentioned were muscular dystrophies, amyotrophic lateral sclerosis, cancer predisposition syndromes, and early-onset Parkinson’s disease. In his clinical practice, he indicated that he sees at least five cases daily, primarily epileptic and developmental encephalopathies in the pediatric population.
Access to specialists is another structural challenge. In Mexico, there is approximately one geneticist for every 200,000 people, and at least 70% are concentrated in Mexico City, Guadalajara, and Monterrey, leaving states like Chiapas with limited coverage.
“There are very few of us, and the process of accessing genetics is very complicated,” Jiménez stated, noting that most geneticists work in tertiary hospitals, while health centers and general hospitals do not offer this specialty.
The lack of genetic training in medical school also contributes to late referrals. “There are doctors who graduate (…) who don’t know what we do as geneticists,” he pointed out.
Treatment presents another challenge. Less than 5% of rare diseases have a curative option. When one exists, the cost can be high. “A single dose can cost up to 2 million dollars,” explained the doctor, who noted that the General Health Law considers these cases catastrophic expenses.
In most patients, care focuses on medications to control symptoms or reduce complications, the costs of which are usually borne by mothers, fathers, or caregivers.
“Eighty percent of people living with a rare disease have a disability,” he stated. This means that there is almost always a permanent caregiver, and there is no specific national support system in Mexico.
Although there are no official figures by region, the specialist acknowledged that in the Highlands of Chiapas, access to diagnosis and specialized studies is particularly limited. An MRI can cost between 7,000 and 9,000 pesos, an amount that is inaccessible to many families.
“We can’t ask people in the communities to travel all the way here and then pay for the MRI,” he stated.
For the medical geneticist, the first step is recognizing the scope of the problem. “We have to make it visible for what it is: a public health problem,” he maintained.
Rare diseases are commemorated on the last day of February, a date chosen because of their uncommon nature. In Chiapas, until there is a formal registry or specific policies, the impact will continue to be measured primarily by the experiences of those who face late diagnoses, high costs, and limited care.
Source: oem
