Collin is a very happy teenager. He loves life and his people. Collin loves his family, music, cars, playing basketball, riding his bike, jumping on the trampoline, swimming, and cheering on the Ball State Cardinals at their home basketball games. Collin loves school and makes friends everywhere he goes.
Collin was born about 6 weeks early and spent a couple of weeks in the NICU. He seemed to be a healthy and typically developing baby during the first year, with the exception of not walking independently. His pediatrician assured us that this was not something to be concerned about and that all babies develop differently. Just before 18 months, we began in-home therapies. Collin was still not walking, and it was becoming more clear to us that something was wrong. He was not developing like typical babies. Just before his second birthday, Collin had his first seizures. At that time we were referred to a pediatric neurologist, and we began the years-long search for a diagnosis. We saw many specialists, and Collin had many tests, with no answers. Collin continued therapies, and to our delight, began walking on his own! Every day seemed like a gift, and we were so proud of our boy. Eventually Collin was even able to stop taking seizure medicine, and for around eight years, he was seizure-free. However, he kept having what we called "drowsy episodes." He would lose muscle control, drool excessively, slur his speech, lean and sit in odd positions and act so drowsy. Nothing we did seemed to help. After more tests, we ruled out seizures, but his neurologist wanted us to try levocarnitine and a multivitamin to see if that would help. They helped tremendously and eventually those drowsy episodes became less frequent and ultimately went away.
Just before Collin's 13th birthday, he began having seizures again. Our tenacious neurologist was determined to find a diagnosis and ordered EXOME testing. About six months later I received a phone call from the doctor with a TANGO2 diagnosis. Collin’s seizures are under control, and he is currently a growing and developing teenager. We are grateful for each day and the gift that is our Collin.