Correct diagnosis is the main challenge for people with a rare disease amazing

The main challenge facing these people is Correct diagnosis, which may take years.

What is a rare disease?

The Ministry of Health considers a rare disease to be one that affects less than 1 in every 2,000 live births. Appreciation is that 13 million Brazilians suffer from some rare condition. This represents 6% of our population.

According to the ministry, there is More than 7 thousand different types of rare diseases It spread all over the world.

American Alex was born without any obvious symptoms, and began suffering sudden falls when he was four years old. His parents found his high frequency strange, but at first they thought it was just a sign that he was clumsy. But this was starting to happen more and more, and the boy was getting hurt. Then came the anxiety.

Little by little, Alex lost movement and the ability to speak. The parents then decided to record videos to record the progression of the disease they had no idea about.

Thanks to the database of genetic diseases created in the United States, the family was able to discover the correct diagnosis. This was only done after many failed attempts.

Alex suffers from a genetic disease caused by a gene called IRF2BPL. It affects body movements and speech control.

There is even a term for the delay in correctly recognizing the disease: the “diagnostic odyssey.”

The concept refers to a long period between the appearance of the first signs/symptoms of one of these diseases and the day when an accurate and specific diagnosis is made.

It is often difficult to find a specialist who can look at the patient as a whole, not just as a sign or organ.

What leads to a rare disease?

About 80% of the 7,000 rare diseases already classified have a genetic cause. The other 20% are very rare causes of infectious diseases, oncological diseases or autoinflammatory diseases.

Public health problem

Congenital malformations, many of which are rare The second largest cause of infant mortality in Brazil. The challenges are enormous.

You Treatments are very expensiveThis makes access to medications often inaccessible.

In some cases, there is even judicialization, which represents another major problem for the Unified Health System regarding access to medicine, when it exists.

The hospital founded by Father Marlon Mocio, who suffers from a very rare disease, is the first hospital in Brazil exclusively for patients with rare diseases. Your service is 100% free.

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