“Rare” deserves a name

The 29th of February only occurs in leap years, once every four years. That makes it a rare and special day. So it’s no wonder that the 29th of February is dedicated to rare diseases. Checklists with warning signs can facilitate early diagnosis of immune disorders and can be a first step out of uncertainty.

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Man and HCP shaking hands
To help make an early and life-saving diagnosis, the Swiss Association for Congenital Immunodeficiencies (SVAI) publishes a list of 10 warning signs that could indicate a congenital immunodeficiency.

Rare Disease Day aims to raise awareness among people affected and their families, and thus help patients get faster diagnosis, more targeted treatment and greater social inclusion. Around the world, more than 7,000 different rare diseases are known, affecting more than 300 million people – but experts estimate the number of unreported cases to be much higher.

More than 700 people in Switzerland live with congenital and recurrent immunodeficiencies. These people’s immune systems cannot produce enough antibodies to defend them against bacteria, viruses, fungi and other pathogens. This leaves them facing recurring infections that can be life-threatening.

To help make an early and life-saving diagnosis, the Swiss Association for Congenital Immunodeficiencies (SVAI) publishes a list of 10 warning signs that could indicate a congenital immunodeficiency.

If you can answer “yes” to one or more of the following questions, you should speak to a doctor about the possibility of a congenital immunodeficiency: 

 
  • Have you had several ear infections within one year?
  • Have you suffered from two or more serious sinus infections within one year?
  • Have you had two or more bouts of pneumonia in one year?
  • Do you suffer from chronic inflammation of the mucous membranes?
  • Have you taken antibiotics for two or more months without any significant improvement?
  • Have you been given intravenous antibiotics to fight an infection?
  • Do you suffer from recurring, deep skin or organ abscesses?
  • Does your child still have persistent oral thrush or fungal infections on the skin or nails after reaching the age of one?
  • Is your child not growing at a normal rate or not gaining sufficient weight?
  • Has anyone in your family suffered from congenital immunodeficiencies?

 

What is the SVAI?

  • The SVAI is a non-profit, non-political and non-denominational association. The SVAI:
  • Promotes research, diagnosis and therapy in the field of congenital immunodeficiencies
  • Informs the public about immunodeficiencies and raises awareness of the concerns of people affected
  • Supports patients, parents and family members in care, educational, social and legal matters
  • Provides financial assistance in hardship cases for the treatment and care of people with congenital immunodeficiencies

For more information go to the website of the Swiss Association for Congenital Immunodeficiencies (SVAI).