What is TBCK syndrome?
TBCK syndrome is a very rare genetic disease caused by mutations in the TBCK gene. This gene plays an important role in cell growth and signal transduction in the brain. Children with TBCK syndrome usually show severe developmental delay, pronounced hypotonia (low muscle tone), problems with feeding and breathing and epileptic seizures. Many of those affected are dependent on extensive aids and nursing support.
Aids that are frequently used for TBCK syndrome:
Aids and support in everyday life
Due to the severity of the symptoms, families with a TBCK child require a very comprehensive range of aids to make everyday life safe and enjoyable:
- Positioning & trunk support: due to the extreme hypotonia, custom-made seating shells and special therapy chairs are essential. They provide the necessary support for the upper body and head to enable communication and eating.
- Respiratory support & monitoring: Mobile suction devices and monitoring monitors (pulse oximeters) are often necessary to keep the airways clear and to control oxygen saturation.
- Mobility aids:Rehab buggies or wheelchairs with elaborate pad systems (cushions) allow the child to be transported safely and participate in social life.
- Safe sleeping & care: A special children's care bed makes daily care easier and offers protection in the event of night-time restlessness or seizures thanks to padded side walls.
- Feeding aids: In the case of pronounced swallowing disorders, mobile feeding pumps and specialized feeding tube systems help to ensure an adequate calorie intake while conserving energy.