Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi

Abstract

Spinal Musküler Atrofi, kaslardaki güçsüzlükle karakterize olan nörodejeneretif ve kalıtsal bir hastalıktır. Moleküler genetik testi ile tanılanan hastalık çocukluk çağı ölümlerinin önde gelen monogenik nedenidir. Beş tipi bulunan hastalığın, farklı etken maddelere sahip üç adet ilaç tedavisi mevcuttur. İlaçların yüksek maliyetli olması, ilaçlara erişimde yaşanan güçlükler, hastalığın seyrinin ağır olması ve yaşam kalitesinin etkilenmesi nedeniyle bakım verenler ve çocuklar zorlu süreçler yaşamaktadırlar. Spinal Musküler Atrofi hem bireyin hem de bakım vereninin yaşamını ekonomik, sosyal ve psikolojik kapsamda etkilemekte ve tedavi sürecinde disiplinler üstü çalışmayı gerekmektedir. Ek olarak, alanyazındaki araştırmalarda Spinal Musküler Atrofi’nin gelişimsel perspektiften ele alınmadığı dikkat çekmektedir. Bu nedenle bu derlemede; Spinal Musküler Atrofi hastalığına yönelik gelişimsel bakış açısının olası katkılarının ele alınması, hastalığın çocuğun sağlık hakkı ve yaşam kalitesi açısından tartışılması ve uzmanların, politika geliştiricilerin farkındalığının artmasına yönelik önerilerin sunulması amaçlanmıştır.

Keywords

• Spinal musküler atrofi
• çocuk gelişimi
• sağlık hakkı
• yaşam kalitesi

Child’s Right to Health and Quality of Life in Spinal Mucsular Atrophy by Developmental Perspective

Abstract

Spinal Muscular Atrophy is a neurodegenerative and genetic disease characterized with muscle weakness. It is the leading monogenic cause of childhood death and is diagnosed by molecular genetic testing. The disease, which has five types, has three drug treatments with different active ingredients. Caregivers and children experience painful processes due to high cost of the drugs, difficulties in accessing the drugs, severe disease course, and the impact on quality of life. Spinal Muscular Atrophy affects both patients’ and caregivers’ life in economic, social and psychological contexts, which necessitates multidisciplinary teamwork during the treatment process. Moreover, it is noteworthy that Spinal Muscular Atrophy is not addressed from the perspective of child development in the studies present in the literature. Therefore, this review aimed to discuss the possible contributions of the developmental perspective towards Spinal Muscular Atrophy, to discuss the disease in the sense of the child’s right to health and quality of life, and to present recommendations for increasing the awareness of experts and policymakers.

Keywords

• Spinal Muscular Atrophy
• child development
• right to health
• quality of life

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