Marina is a happy 2-year-old girl. She likes to play with people more than playing with toys. She loves songs for children and cartoons. She always smiles. She also likes to be on move like being in the car.
Marina was born like a healthy baby. She always liked to eat a lot and nothing seemed to be wrong with her until the age of 8 months. She didn't wrap toys easily but it didn't seem to make doctors worried. At the age of 8 months old she was vaccinated with the meningitis vaccine and exactly the same night after the vaccination, she began to have drowsiness and made unusual movements with her eyes. This led us to seek to find out what was happening to her. She did not need hospitalization and after a few days she recovered from drowsiness.
But eye movements continued to occur and she often looked tired. Initially she was misdiagnosed that she had an autoimmune disease. Electroencephalograms, MRI scans and many other tests were performed, all of which came back normal. Eventually we were advised to have a genetic test. The initial results were normal for her genetic code, but whole exome sequencing analysis showed a mutation in the TANGO2 gene. Initially, the doctors, not having much experience with this disease, considered that the phenotype of Marina did not match the TANGO2 disease. However, having not found anything else to explain the delay in her development, they agreed that this was the diagnosis. In the process, she showed mild hypothyroidism, dystonia in her legs while she has some episodes of fatigue and muscle weakness. Although she has a neurodegenerative disease, she seems to be developing slowly but in a good way.
She is now 2 years old sits stable, stands with support, plays in a very immature way, and says only baby expressions. She takes a vitamin cocktail which contains a complex of B vitamins, coenzyme q10, l- carnitine and DHA OMEGA. We hope that she is going to do things in her own way and in the end she will walk independently. She continues to eat well, seems healthy until now, and she hasn't had a metabolic crisis so far.
Hopefully we found a group on Facebook, which was made by TANGO2 parents. They helped us a lot. They suggested the vitamins cocktail and they help us anytime we need help. Doctors at the University of Houston also help us when we email them. It's not easy to deal with a rare disease and we are scared of the future, but we have hope. Children with TANGO2 disease are warriors and we hope that a cure will quickly be found.