Liam B's
Story

Liam was diagnosed with a de novo TUBB3 genetic mutation when he was just 2 years old. We noticed early on that he wasn't meeting the typical developmental milestones, so he was referred to early intervention and therapy. Before we knew that Liam had a rare genetic disorder, he was diagnosed with torticollis at 2 months old. He had to wear a TOT collar and start physical therapy. When that was resolved, Liam had to wear a plagiocephaly helmet and continued physical therapy due to being diagnosed with global developmental delay, hypotonia, and left sided weakness. He also had an MRI done at 8 months old to check for any brain abnormalities. It showed that he had a thin corpus callosum and decreased white matter in his brain. Liam was able to meet the developmental milestones with the help of therapy and practice at home. He rolled over at 6 months old, sat up at 9 months old, crawled at 14 months old, pulled up to stand at 19 months old, and walked unassisted at 26 months old. Liam used a gait trainer to help him improve his balance, build strength, and learn to walk. He was later diagnosed with scoliosis, ankle pronation, flat feet, anxiety, autism, attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), obsessive compulsive disorder (OCD), and bilateral congenital superior oblique palsy. He has had 5 eye surgeries to help correct the vision impairment and now wears glasses. He also needed several pairs of supramalleolar orthoses (SMOs) to help strengthen his ankles. Now, Liam regularly attends Applied Behavior Analysis (ABA) therapy and neurofeedback therapy. Liam is 9 1/2 years old now. He loves to read, watch tv, play with hot wheels, and listen to music. He attends public school in a special ed class and has an Individualized Education Program (IEP). Liam is doing well. He still needs help with activities of daily living, communication, and redirection, but he has come so far in his life journey! We are proud of his hard work!