Carson’s Story

Sweet Carson was born in June of 2010 and was our first child. Leading up to her diagnosis at 6 months, Carson was continually missing her developmental milestones and further fell off the charts with her small head circumference. Worried about our newborn, we scheduled numerous doctor appointments to get an understanding of what was going on with Carson and her lack of development. After meeting with a Geneticist, she was diagnosed with Pitt Hopkins Syndrome. Carson’s deletion of the TCF4 gene is very small. However, we have quickly learned that just because it is a small deletion doesn’t mean the effects are any different. She has the characteristic wide brim nose also associated with PTHS. Carson has been fortunate to not have any major medical complications thus far. She does have constipation issues from time to time, but all of her other “systems” have been checked out and are all functioning normally at this time. In addition, she has not had any seizures or hyperventilating to date. Carson has a little sister named Colbie Grace, who just turned 1. Carson and Colbie have been fortunate to have an in home sitter their whole lives, which has helped them both out tremendously, as some children with PTHS have very sensitive immune systems. Their grandmother “MaVie” was Carson’s first babysitter and then Ms. Rachel took over until she went off to college, but still remains very involved with both Carson and Colbies lives. Currently, Ms. Kelsie comes over every morning to take care of both Carson and Colbie while we go to work. Carson loves to ride on all-terrain carts with her PaVie and especially LOVES to ride in her Daddy’s diesel truck. She also loves to watch the hundreds of seagulls swoop in to eat bread and crackers while sitting on the pier at the camp. Music is a very large part of her life and dancing with her grandma Ro makes her smile ear to ear! With all of the tireless help from ALL of her therapists, Carson is showing signs of developmental improvement with her hands, eyes and physical capabilities by pulling up on things and is comfortable standing with “lean” assistance for small periods of time. She has also recently learned how to kiss her parents and nanny on command. This was considered a TREMENDOUS milestone as it proves that she is understanding verbal communication. Carson is loved and adored by many and will continue to inspire us every day.

~Mike and Jenny from Louisiana