Rare Disease Day – Raising awareness of KCNQ2

Rare Disease Day takes place every year on February 28.
It draws attention to rare diseases, each of which affects only a few people individually, but millions worldwide in total.

Many of these diseases are little known, difficult to diagnose, and have not yet been sufficiently researched.
Rare Disease Day aims to raise awareness, spread knowledge, and promote exchange between those affected, specialists, and the public.

One of the many rare disorders is KCNQ2.

KCNQ2-associated disorders are genetic and affect the nervous system. They often occur very early in life, often in newborns. Many affected individuals develop epileptic seizures, which can manifest and progress in very different ways.

The range of symptoms is wide. In addition to epilepsy, developmental delays, motor impairments, and other neurological symptoms may occur. Each case is unique. Many struggle with severe limitations throughout their lives and require comprehensive care.

Because KCNQ2 is rare, there is often a lack of knowledge, experience, and reliable information—both in the medical and social spheres.

For people with rare diseases and their families, a lack of awareness often means additional stress.

More attention can help:

• Detect rare diseases earlier
• Speed up diagnoses
• Improve care and treatment
• Promote targeted research
• Connect affected families and relieve their burden

Visibility also means that those affected are not alone and that their situation is taken seriously.

KCNQ2 e. V. is an association that supports people with KCNQ2-associated diseases and their families.
The association provides information, connects those affected, supports exchange, and is committed to raising awareness and promoting research around KCNQ2.

On Rare Disease Day, we take the opportunity to raise awareness of KCNQ2 and provide information about a disease that is rare—but shapes the everyday lives of affected families.

Rare Disease Day ends after one day—
but life with a rare disease does not.

By providing information, listening, and sharing knowledge, we help to create understanding and improve the situation of people with KCNQ2 in the long term.

Learn more about KCNQ2
Learn more about the association’s work