Pró-Raros – Rede de apoio a pacientes com doenças raras e sem diagnóstico.

Need Help

Support network for patients with rare or undiagnosed diseases

Thousands of people live with complex diseases or conditions without diagnosis, treatment, or support. Our goal is to change that.

About us

We are a group of family members affected by rare diseases who came together with the purpose of guiding, welcoming, and offering assistance to patients and families facing the difficult journey of rare diseases, whether already diagnosed or still searching for answers.

Our mission is to be a platform of support and hope, connecting people to a care network.

More than information, we seek to offer emotional support, safety, and tangible paths to improve the quality of life of those living with rare conditions or with diseases that, even if not classified as rare, also require specialized support.

Support we provide

Medical referrals

We connect patients with specialized healthcare professionals, helping them find the best care and follow-up paths.

Psychological support

We refer qualified professionals to provide emotional support and therapeutic follow-up to patients and family members.

Physiotherapy support

We refer professionals who offer therapies and exercises to assist in treatments, promoting better quality of life and well-being.

Legal support

We help secure health-related rights, whether through the public health system (SUS) or private insurance, with accessible and reliable legal guidance.

Access to medication

We support access to high-cost medications, public health programs, and the importation process for treatments not yet available in the country.

For us, every life matters

The Pró-raros is the fulfillment of a dream of family members of patients who have faced a true saga in search of a correct diagnosis, treatment, access to high-cost medications, and a better quality of life.

Around 80% of diseases have a genetic origin.

20% have infectious, autoimmune, or environmental causes.

6,000 to 8,000 rare diseases have already been identified worldwide.

Only 5% have medications available for treatment.

Main conditions we assist

Rare Diseases

Rare diseases can be classified into different categories, which help in understanding their complexity and impact:

Cause or Origin:
• Genetic (hereditary or spontaneous mutations).
• Environmental (exposure to external factors).
• Multifactorial (interaction between genes and environment).

Affected Systems:
Neurological, immunological, metabolic, cardiovascular, musculoskeletal, among others.

Prevalence:
Defined by their low population occurrence.
They generally affect fewer than 65 people per 100,000 inhabitants.

Age of Onset:
Many appear in childhood, but some only manifest in adulthood.

Severity:
They range from mild conditions to diseases that can be fatal or highly disabling.

Inborn Errors of Immunity

Group of more than 450 genetic diseases that affect the immune response, according to IUIS classification (2022).

Main categories:
• Combined immunodeficiencies (e.g., SCID)
• Predominantly humoral immunodeficiencies (e.g., Bruton’s agammaglobulinemia)
• Immune dysregulation diseases (e.g., X-linked lymphoproliferative syndrome)
• Phagocyte defects (e.g., chronic granulomatous disease)
• Autoinflammatory diseases (e.g., Familial Mediterranean Fever)
• Syndrome-associated immunodeficiencies (e.g., DiGeorge syndrome)

Clinical examples:
• Severe recurrent infections
• Inadequate response to vaccines
• Development of autoimmunity and cancer

Treatment:
• Bone marrow transplant
• Gene therapy (expanding)
• Intravenous or subcutaneous immunoglobulin
• Immunomodulatory drugs

Community-Prevalent Diseases

Some rare diseases are more common in specific communities, such as the Jewish community, due to genetic inheritance.

Ashkenazi Jewish community:
• Tay-Sachs disease
• Gaucher disease
• Canavan disease
• Bloom syndrome
• Cystic fibrosis

Sephardi Jewish community:
• Familial Mediterranean Fever (FMF)

Mizrahi Jewish community:
• Behçet’s disease
• Other autoinflammatory conditions

Relevance:
• Genetic screening is strongly recommended in these populations
• Enables early diagnosis, family counseling, and prevention of severe cases

Fibromyalgia

Chronic syndrome characterized by widespread musculoskeletal pain and associated symptoms.

Symptoms:
• Persistent widespread pain
• Severe fatigue
• Sleep disturbances
• Cognitive changes (“fibro fog”)
• Hypersensitivity to tactile, sound, and light stimuli

Diagnosis:
• Clinical, based on established criteria (ACR/EULAR)
• Exclusion of other diseases with similar symptoms

Treatment:
• Multidisciplinary approach
• Medications (analgesics, antidepressants, anticonvulsivants)
• Regular physical exercise
• Complementary therapies (psychotherapy, physiotherapy)

Impact:
• Affects more women
• Global prevalence of 2 to 4%
• Reduces quality of life and functional capacity

Autism Spectrum Disorder

Neurodevelopmental condition with different levels of support required.

Causes:
• Genetic (chromosomal changes and mutations)
• Environmental (perinatal factors, exposure to external agents)

Symptoms:
• Difficulties in communication and social interaction
• Repetitive behavior patterns
• Hyperfocus on restricted interests
• Sensory alterations

Treatment:
• Psychosocial and educational interventions (ABA, TEACCH, sensory integration)
• Medications in specific cases
• Cannabidiol (CBD) under study, with promising results in managing anxiety and seizures

Prevalence:
• Approximately 1 to 2% of the world population
• Early diagnosis significantly improves prognosis

Other Conditions

BRCA1 and BRCA2:
• Genes associated with hereditary breast and ovarian cancer
• Genetic testing indicated in at-risk families

Crohn’s disease and ulcerative colitis:
• Chronic inflammatory bowel diseases
• More prevalent in certain populations, including Jewish communities

Parkinson’s disease:
• Neurodegenerative disorder
• Some subtypes have higher prevalence in Ashkenazi Jewish communities

Most litigated medications in Brazil

To guide patients and families, we have compiled an updated list of the most litigated medications in the country, with information about access through the public health system (SUS) and private insurance.

News & Articles

Silent Diseases