One child was healthy, while her two brothers were diagnosed with spinal muscular atrophy. Thanks to early detection through newborn screening and rapid treatment, the boys are now gaining weight and developing as expected for healthy children.
A remarkable case has been reported in Katowice, Poland, involving triplets in which two boys were diagnosed with spinal muscular atrophy (SMA) while their sister is healthy. According to the Upper Silesian Children’s Health Center (GCZD), this is the only such documented case in the world to date.
The children were born in the Silesian Voivodeship at 30 weeks of gestation, weighing approximately one kilogram each. Newborn screening detected SMA in the two boys, who were found to have three copies of the SMN2 gene. Their sister was healthy.
Thanks to cooperation with the hospital where the children were born and the involvement of Professor Iwona Maruniak-Chudek, Head of the Department of Neonatology and Neonatal Intensive Care at GCZD, the babies were quickly transferred to the Upper Silesian Children’s Health Center.
The boys received interdisciplinary treatment at GCZD. Their attending physician is neonatologist Inna Hajduk. Neurologists Dr. Jerzy Pietruszewski, Professor Ilona Kopyta and Dr. Piotr Rodak were responsible for their neurological assessment, preparation for treatment and therapy. Physiotherapist Zofia Sitek carried out the children’s neurodevelopmental assessment.
The boys initially received what doctors describe as bridging therapy with an oral medication. In their third week of life, they were given gene therapy. The treatment proceeded without complications.
Newborn screening has already enabled doctors in Poland to identify more than 100 children with SMA at the presymptomatic stage.
Under the current drug programme, three reimbursed treatment options are available: oral therapy, a one-time intravenous gene therapy and intrathecal therapy.
The boys are now four months old, and their condition is encouraging.
The babies are gaining weight, and their development is progressing as expected for healthy children.
Dr. Jerzy Pietruszewski, Regional Consultant in Paediatric Neurology and Head of the Department of Paediatrics and Developmental Neurology at GCZD.
The case highlights the importance of newborn screening in SMA, allowing the disease to be identified before symptoms appear and treatment to begin at a very early stage — particularly significant for premature babies with very low birth weight.
The GCZD team said it was delighted with the boys’ progress and wished both children good health and all the very best.
Photo: GCZD specialists involved in the children’s treatment. From left: Piotr Rodak, Zofia Sitek, Prof. Ilona Kopyta, Dr Jerzy Pietruszewski, Inna Hajduk, and Prof. Iwona Maruniak-Chudek.
