Queues and late diagnosis impair quality of life for people with rare diseases

The Medical Genetics Service and Reference Center for Rare Diseases at Hospital das Clínicas de Porto Alegre has around 2,500 patients waiting for consultation.

The scenario is similar at the Pequeno Príncipe pediatric hospital, in Curitiba, which has about 1,500 children in the queue at the rare disease center.

The damming of patients directly affects the quality of life of those who have a rare disease, because they are progressive and disabling pathologies, with sequelae, usually, irreversible.

“The first bottleneck is access to a consultation with a specialist, the second is the exams. With this, the diagnosis takes a long time to be made”, says Ida Vanessa Schwartz, head of the sector at Hospital das Clínicas in Porto Alegre.

In addition, the lack of knowledge of the correct diagnosis can cause suffering to families for years.

“There is enormous anguish while you don’t know your child’s diagnosis. Often, if the family knows the name of the disease, they know where to look for information”, says Mara Lúcia Schmitz, neuropediatrician and coordinator of the Pequeno Príncipe unit.

For her, one of the great challenges of this type of treatment is that many patients arrive at the clinic and remain hospitalized due to the severity of the cases, which creates damming.

The Ministry of Health estimates that approximately 13 million people live with rare diseases in the country.

Sought, the folder said not to count the queue for specialties, the responsibility of local managers.

According to the WHO (World Health Organization), rare pathologies are those that affect up to 65 people in every 100,000. It is estimated that there are between 6,000 and 8,000 different types of these diseases worldwide. Of the total, 80% come from genetic factors and about 95% have no defined treatment.

The patient’s route to a specialized center passes through the basic health unit and through consultations and exams.

That is why it is important for the team at the local units to be able to identify which cases need more attention. The dissemination of information about these conditions is an ally of those seeking diagnosis.

Schmitz says that many diseases manifest with different symptoms and still do not have 100% accurate tests, which demands constant research work.

A resident of Duque de Caxias (RJ), Ingrid Siqueira, 39, has lived with Pompe’s disease since childhood, a genetic pathology that causes muscle weakness and respiratory failure.

She didn’t get the correct diagnosis until she was 33. “It was a very long process. I had biopsies, mappings, but it was after a genetic test, which had to go to Germany, that I had confirmation.”

Ingrid needs devices to help her breathe and can’t walk anymore. For her, an earlier diagnosis would have given her a better quality of life.

Today, she has periodic consultations at the Gaffrée and Guinle University Hospital, in Tijuca, north of Rio, and faces difficulties in accessing high-cost medication. “I had to go to court [contra a União] to get the medication, but I’ve been off medication for two months.”

The Ministry of Health counts 17 reference institutions for the treatment of rare diseases in the country.

These centers are complete and multiple care hospitals, which serve many specialties, explains physician Roberto Giugliani, a professor at the Faculty of Medicine at UFRGS (Federal University of Rio Grande do Sul).

He is co-founder of Casa dos Raros, in Porto Alegre, an exclusive clinic for people with these pathologies.

The space, which will open in May this year, is an initiative of two organizations that treat this type of patient: Instituto Genética Para Todos and Casa Hunter.

Casa dos Raros will have mixed care, receiving patients from the SUS, private consultations and health plans.

Together, the country’s rare disease cases are numerous, but individually each person needs specific care, says Giugliani.

For the doctor, the cost of research is still an obstacle: “It takes a huge investment to treat a small number of individuals.”

He adds that one of the main difficulties of large specialized centers is to bring together the multidisciplinary team in one place.

If the treatment requires many displacements, the patient may end up being affected. Psychoanalyst Arlen de Jesus dos Santos, 39, monthly accompanies his mother, Ana Maria de Jesus Santos, 66, for consultations with a neurologist in Vitória da Conquista (BA). The distance between the hospital and the city of Jequié, where Ana Maria lives, is 150 km.

She was diagnosed a year ago with Stiff Man syndrome, an autoimmune disease that compromises the central nervous system and causes stiffness and muscle spasms.

Arlen says that he sought private care for his mother because the queue for consultation at the local neurologist, through the public network, was more than six months. The family also went to court to get Ana Maria’s medicine.