La fiebre periódica rara puede ser un terreno minado. Gran parte de la investigación se ha dedicado a comprender estas condiciones y las razones genéticas detrás de ellas, sin embargo, los resultados son complejos y aún no totalmente claros, ¡incluso para los científicos! Mucho de esto se reduce a las diferencias en el (ADN) entre las personas. Las diferencias de ADN entre las personas son naturales –las personas rara vez son idénticas– pero de vez en cuando un cambio diminuto (1 cambio de 3000 millones de pares de bases de ADN) tiene grandes efectos derivados (como tumbar la primera pieza de dominó en un gran sistema ramificado de piezas) En esta sección de ciencia de la página web se describen los aspectos más destacados de la comprensión actual de la ciencia detrás de los cambios diminutos en el ADN que conducen a la fiebre periódica rara, y se describen algunas de las enfermedades en sí (CAPS, AIJS, FMF, TRAPS, HIDS y gota). Explore para aprender más.

What are the difficulties of living with SJIA ?

The challenges of living with SJIA are many, and not simply physical. Not being able to do many of the simple, everyday things people take for granted, the disease takes an emotional and mental toll on everyone affected by SJIA – parents and family, as well as the child dealing with this autoinflammatory condition themselves.

How can you manage the effects of SJIA on your family?

In this video, Dr. Eugen Feist, a rheumatologist at the Charité University Hospital in Berlin, explains the effect that disease management and contact with patient advocacy groups (PAGs) can have on the life of a child and their family affected by SJIA.

What experiences do families dealing with SJIA go through?

Watch the video below for expert insights from Professor Alberto Martini (University of Genoa, Italy) and Mr Gabriele Bona (AMRI Association based in Genoa, Italy) on the experience of people who are living with SJIA.

Real life stories from people with rare disease 

Living with a rare autoinflammatory disease is different from one person to the next. Watch this series of videos below to find out how patients and their families share their experiences of living with SJIA, FMF and other autoinflammatory conditions.

Click here  to learn more from the experiences of others diagnosed with SJIA and a guide to what it means to live with a rare periodic fever syndrome like SJIA.

If your child is displaying any of the symptoms of SJIA, it is important you speak to your doctor as soon as possible and obtain an accurate diagnosis. Click here  for guidance on finding a specialist pediatric doctor and what you need to know to prepare for your first appointment with an SJIA expert.