The article, authored by Maarja Krais-Leosk, emphasizes the significant number of families coping with rare diseases in Estonia, estimated to involve between 47,000 to 80,000 individuals. It outlines the arduous daily lives of these families, who often navigate complex bureaucratic systems without adequate support. Krais-Leosk, who is also a mother of a child diagnosed with synGAP1, points out that the psychological and social assistance is a pressing need, alongside conventional medical treatment.

The author stresses that there is a necessity for a nurturing environment where family members can remain involved in the workforce and not feel isolated due to the circumstances surrounding rare diseases. The challenges extend beyond just patients; numerous family members are affected directly, as each rare disease typically impacts multiple individuals in the family structure. The article poignantly highlights the emotional and bureaucratic hurdles these families must overcome, often requiring the support of others to manage the burdens they face daily.

Krais-Leosk also sheds light on the complex nature of rare diseases, with almost 8,000 different types noted, most of which have a genetic basis. Despite the low prevalence of each individual disease, the cumulative impact on society is substantial, as close to a quarter of the population may be affected indirectly through their familial connections to those diagnosed. The need for a supportive and understanding social framework is crucial to ensure these families can thrive without succumbing to isolation or despair.