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Rare diseases

A rare disease affects a small percentage of the population (5 in 10,000 people). They are, for the most part, chronic and degenerative.

They include various disorders and symptoms that vary not only by disease but also from patient to patient.

For a long time, doctors, researchers, and governments were unaware of rare diseases and, until very recently, there was no real research or public health policy on them. There is no cure for most rare diseases, but proper treatment and medical care can improve the quality of life of those affected by them and prolong their life expectancy.

Spinal muscular atrophy (SMA)

It is a rare, genetic, progressive, and often terminal illness that affects an individual’s ability to walk, eat, and breathe. Approximately one in 10,000 individuals suffers from SMA and it is one of the leading causes of infant death due to genetic factors.

MPS IV or Morquio’s disease

A hereditary disease that affects the body’s major organ systems. The disease is a type of mucopolysaccharidosis, which itself is a type of lysosomal storage disorder.

MPS VI (mucopolysaccharidosis VI)

Also known as Maroteaux-Lamy Syndrome, it is a hereditary lysosomal storage disorder caused by a deficiency of N-acetyl galactosamine 4-sulphatase (arylsulphatase B), an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAG).

CLN2 (late infantile neuronal ceroid lipofuscinosis type 2)

It is an extremely rare, rapidly progressive pediatric brain disorder, one of the most common forms of neuronal ceroid lipofuscinosis, a group of hereditary disorders collectively known as Batten disease.

We work hand in hand with Pediatricians, Geneticists, Cardiologists, Orthopedists, Neuro‑pediatricians, Neurologists and other healthcare professionals who strive every day to provide timely diagnoses and offer state-of-the-art treatments to improve the quality of life of people who suffer from any type of these “orphan diseases” in more than 14 countries in Central and South America and the Caribbean.

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