The story of Rosa
Adam is a beautiful baby boy, he is 5 years old. He has what is called SLC1A4 deficiency, a genetic mutation. This genetic condition causes Adam to have microcephaly, thin corpus callosum, developmental delay, seizures, hypotonia, GERD, spastic tetraplegia, intellectual disability, cortical visual impairment . Adam can’t talk or walk, the spasticity in his leg muscles have caused his hips to be dislocated and will need major reconstructive surgery in a couple of years. The only genetic test that was able to find out what was wrong with my baby is called WES (Whole Exome Sequencing). He gets Occupational therapy, Physical therapy, feeding therapy. He had to have a g-button surgery last year since he couldn’t gain weight due to his GERD, since then he has gained weight. There are only about 30 known cases in the world. Adam loves swings and enjoys being outside, listening to different sounds, looking at trees and cars passing by. He also goes to school, loves singing and having conversations in his own language.