Some 2.5 million people with rare diseases in Mexico are not diagnosed

At least 2.5 million Mexicans could have a rare condition, but they are not yet diagnosed, warned this Thursday Belkis Monsalve, specialist and medical manager of Hematology and Women’s Health at Astellas Pharma, on the occasion of World Health Day. Rare Diseases.

With this, in Mexico there are 8 million people with rare diseases, according to calculations by the National Autonomous University of Mexico (UNAM).

“It is important to have an updated census because that allows us to act with treatment in time, but in order to have access to these types of medications, especially at the public level, we need to know how many patients suffer from certain diseases.”said Monsalve, who is also a surgeon and pediatrician.

Within the framework of World Rare Disease Day, this Thursday, the expert pointed out that there is no unanimous international definition on the statistical threshold under which a condition is considered rare, but in Mexico it is considered that way when it affects no more than five. people per 10,000 inhabitants.

Another characteristic is that they are chronic, serious, disabling and progressive illnesses.

He also explained that more than 8,000 rare diseases have been identified in the world, but “Unfortunately, there are very few who can be easily identified and there are also very few who have access to treatment.”

In Mexico, a total of 23 rare diseases, including Turner syndrome, spina bifida, cystic fibrosis, Pompe disease, hemophilia, histiocytosis, congenital hypothyroidism, phenylketonuria, galactosemia, congenital adrenal hyperplasia and homocystinuria.

Furthermore, he said, among the 85% and 90% of rare diseases are serious, have great psychological and emotional impact, are life-threatening, and are present at any age.

Given this, Monsalve considered it important to raise awareness about these evils, since it is essential to guarantee equitable access to health, which includes early diagnosis and treatments that improve quality of life.

“That is why it is important to raise awareness so that they can be identified at any level of health care and can be treated,” he detailed.

He said that many times patients live without a diagnosis, which leads them to die from the disease.

“These are patients who have a very deteriorated quality of life, whose years of life are shortened because they are not diagnosed at the right time and are not treated adequately,” mentioned.

He pointed out that, although in 2021 there was an initiative to carry out a census of rare diseases and facilitate health care in Mexico, there was no continuity, although patient associations have organized to seek to improve the situation. Likewise, he highlighted the challenge of access to treatments.

“Sometimes the newest treatments in the United States have to take up to five years to be approved in Mexico and once approved, the treatment must also be guaranteed to the patient,” he concluded.

Know some of the rare diseases

X fragile syndrome

Fragile X syndrome is a rare genetic disease, due to an inherited defect in the It is estimated that the frequency in Spain is 1 per 4,000 males in the general population, one carrier per 800 and one carrier per 5,000 live births. Clinically, it presents with mental retardation of varying degrees, although it is usually mild with learning difficulties, lack of attention, hyperactivity, with anxiety and unstable mood or autistic behaviors.

Mobius syndrome

Moebius Syndrome is a rare developmental disease. Two important cranial nerves, the 6th and 7th, are not fully developed in these patients. These nerves control both the blinking and lateral movement of the eyes, as well as the multiple expressions of the face, which causes facial paralysis and lack of movement in the eyes. Lack of facial expression can be accompanied by drooling, speech difficulties, and pronunciation problems.

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that causes a progressive loss of motor neurons. The prevalence of the disease is 5 to 9 per 100,000 subjects. The age of onset of the disease varies widely, but the peak incidence is between 40 and 60 years. Approximately two-thirds of ALS patients begin with asymmetrical limb muscle weakness and deterioration. The disease is relentlessly progressive, with increasing disability and handicap, generally leading to death as a result of respiratory failure within approximately 3 to 5 years.

Prader Willi syndrome

Prader Willi Syndrome is a rare disease of embryonic development. It was first described in 1887 by Langdon Down, and a frequency of 1 in every 25,000 live births is estimated. A very detailed literary description of it can be read in the novel by Charles Dickens entitled “The Papers of Mr. Pickwick”. Clinically, it is characterized by obesity, hypotonia (abnormally decreased muscle tone), mental retardation, and hypogenitalism (reduced genital development or activity).

Schönlein-Henoch purple

Henoch-Schönlein purpura (HSP) is a disease characterized by inflammation of the capillaries, that is, small blood vessels. It generally affects the capillaries of the skin, intestine and kidneys. Blood can leak from swollen blood vessels in the skin, producing a dark red or purplish rash called purpura. The same thing can happen in the intestine or kidneys, so blood can be passed in the stool or urine (hematuria).

Hutchinson-Gilford progeria

Hutchinson-Gilford progeria is an extremely rare syndrome characterized by premature aging with postnatal onset. The main clinical and radiological features include alopecia, thin skin, absence of subcutaneous fat, joint stiffness and osteolysis. Intelligence is not affected. Premature death occurs due to arteriosclerosis or cerebrovascular disease.

Marfan syndrome

Marfan syndrome is a rare inherited connective tissue disease that primarily affects the skeleton, lungs, eyes, heart and blood vessels. Clinically, it is characterized by above-average height, wingspan exceeding height, and bone malformations that include arachnodactyly (disproportionately long and thin fingers), pectus. carinatum (chest out) or pectus excavatum (sternum displaced inwards). It is accompanied by hyperextensibility of the joints, backward curved knees and legs, flat feet, kyphoscoliosis (combination of kyphosis, abnormal anteroposterior curvature of the spine and scoliosis, abnormal lateral curvature) and low subcutaneous fat. It can be accompanied by acute myopia and usually affects the arteries and heart.

Congenital Insensitivity to Pain

Congenital Insensitivity to Pain (CIP) is a genetic disorder that affects the autonomic nervous system, which controls blood pressure, heart rate, sweat, the sensory nervous system, and the ability to sense pain and temperature. Patients who suffer from it interpret painful stimuli abnormally. As a consequence, they run the risk of suffering injuries (trauma, fractures, dislocations, burns…) and dying at a younger age. They should be under supervision at an early age so that they do not unintentionally harm themselves, for example by biting their tongue.

Gilles de la Tourette syndrome

Gilles de la Tourette Syndrome, also called “tic disease”, is a rare pathology of the nervous system. It is characterized by tics consisting of rapid, repetitive and involuntary movements of a group of functionally related skeletal muscles, lacking purpose as a motor act, or in an involuntary production of noises (grunting, inhalation of air through the nose, coughing) and words. .

With information from EFE.