Diagnosis of the child
deficiency of glucose transporter type 1 with paroxysmal conditions of non-epileptic origin in the form of general muscle weakness, coordination disorders, segmental myoclonus, impaired psycho-speech development, epilepsy in the form of tonic convulsions, attacks of cessation of motor activity in the anamnesis.
Glucose transporter type 1 deficiency is a genetic disease caused by a malfunction of the transport proteins responsible for transporting glucose within the body’s cells. This type of glucose transporter deficiency, which is hereditary, results in insufficient glucose entering the cells, which creates problems with the body’s energy supply.
The purpose of the collection
purchase of a specialized wheelchair with additional equipment for a disabled child, Nova model
History of the child
Twelve-year-old Milana is the second child in the family. At the age of 2 months, the girl had her first tonic epileptic seizures, which later became more frequent. The child had already experienced a regression of mental and motor skills by 10 months of age. Based on the results of the study, data were obtained in favor of a heterozygous deletion of a region of chromosome 1 in the region that includes exon 1 of the SLC2A1 gene. Pathogenic variants of this gene in a hetero/homozygous state lead to the development of a monogenic disease – GLUT1 deficiency.
Today, Milana is experiencing episodes of general weakness, during which the child cannot walk, speech is also difficult, and twitching occurs in the limbs and facial muscles. Such attacks can last up to an hour. The child’s speech development and motor functions are impaired.
“We ask you to help us buy a stroller for our daughter. Five years ago we turned to you, and you helped us out a lot. But within five years the stroller became unusable. During hormone therapy, the child gained weight; at the age of 11, she weighs 50 kg and is struggling to walk. We will be very grateful if you can help us” – the Gurets family is asking for help.