Matteo journey all began when he was 6 weeks old when he had an unknown high fever that lasted for 1 week. Doctors wanted to do a spinal tap but the fever went away. After this everything went downhill and i never thought our lives would change forever. Matteo was diagnosed with Type 1 Diabetes at 20 months old. Then we noticed his head would be tilted more on the right side. He was then dx with torticollis and scoliosis. He did therapy for his neck twice a week. Then he was diagnosed with hypotonia and only walked when he was 2 years old. He had so much pain in his legs and would cry often. He would sometimes have dislocated elbows and we had to go to the ER. Matteo had a hard time talking as well . After a visit to the doctor they noticed he had atrial septal defect and needed surgery because his heart was getting enlarged and the hole was not closing. After a lot of doctors appointments he had multiple test done, and was diagnosed with Seizures, Attention deficit disorder, Obsessive compulsive disorder, aggressive behaviors, and mild intellectual disability. Then Matteo was put on 2 different kinds of medication due to his violent behaviors. Then doctors decided to do a whole exome sequencing and they concluded that Matteo had MED13L syndrome.
Now, Matteo is 11 years old and doing amazing!! (09-19-2020)