Charlie's story is posted from the year 2000. We will be adding an update soon along with pictures.
Charlie was born three weeks early on October 27, 1990 by induced delivery due to poor fetal growth.. He weighed 5lbs 5ozs. He had sucking difficulties and developed jaundice and was placed under bili lights. There was concern when he was taken home because his eyes had not yet opened. They determined he had severe eye problems, which included blepharophimosis, ptosis, and epicanthus inversus (BPES). There were no muscles in his eyelids to open and close his eyes. He was diagnosed with a chromosome 3 deletion missing bands q21.3-q23 at 8 months. At that time mom and dad were told that Charlie had the smallest of all reported chromosome 3q deletions. His physical exam showed microcephaly. He had a weak cry, hypotonia of the trunk, upper limbs and neck and hypertonia and spasticity of the lower limbs. They also found that he had no tear duct on the left side of his face. He had a surgery to make a tear duct. Charlie has had several operations on his eyes. In one they took a muscle from Charlie's leg to use for his eyelids. He also had a surgery to correct a lazy eye due to his eyes being closed for so long and one to correct the far space between his eyes. His parents knew it was a lot to go through but they thought it would improve his quality of life. Mom says his eyes look really good now and he can see much better. He wears glasses for nearsightedness and mom says he doesn't like to wear them. Charlie also had an inguinal hernia repaired at 4 months. Charlie did not sit up until he was 1. He started crawling at 18 months and walked at 2 1/2 years. He is pretty small for his age and has trouble gaining weight.
Charlie also developed juvenile diabetes type 1 when he was around 4 years old, but mom says that it is unrelated to the chromosomal anomally. He requires careful sugar monitoring and shots every day. Charlie's receptive language is very good. When Charlie started to learn sign language and use a communication book a miracle started to happen--Charlie started talking. That was when he was around 8 years old. He is 9 now and is putting some sentences together. He weighs 48 lbs. Charlie is still very sensitive around the front of his mouth so brushing teeth is difficult. When he was 8 he started having occasional mild seizures and his mom said they would be testing for that soon. His favorite TV show is Rugrats. His mother said he is happy a lot and very easygoing.
Charlie has had an article written up on him which can be found in the American Journal of Medical Genetics 47:1147-1150 (1993). Marian would like to correspond with anyone interested. For contact info, please contact the site administrator on the bottom of the main page.