Infant Has Rare Head Birth Defect, Mom Quizzed Doctor, Surgery Done

COURT HOUSE – When Karen and William Sanchez’s sixth child, William Jonah (W.J.), was born just before Easter 2013, the family was thrilled. Four of her children are girls so their only son Noah was very happy to finally have a brother. Everything seemed normal at first and the Sanchezes brought W.J. to join their family in Court House just a few days after delivery.
Four months later, W.J. was diagnosed with craniosyntosis, a birth defect that causes one or more sutures on a baby’s head to close earlier than normal, which causes the baby to have an abnormally shaped head. If untreated, craniosyntosis results in a head deformity that can be severe and permanent and can cause blindness, seizures, deafness and mental defects.
An infant’s skull is made up of bony plates that allow for growth. The borders at which those plates intersect are called sutures. Sutures normally close by the time the child is 2 or 3 years old. Early closing of a suture causes the child to have an abnormally-shaped head. There is no known cause for the condition although it may be linked to genetics.
The only problem Sanchez noticed with W.J. was that he was not gaining weight properly. At his one-week checkup, W.J. lost nine ounces from his delivery weight. Sanchez was told to give him formula, instead of breast milk. Sanchez refused and W.J.
slowly began gaining weight. At two months, W.J. only gained two ounces so he was referred to a gastroenterologist.
After many tests, W.J. was diagnosed with selective IGA deficiency (low or absent levels of a blood protein called immunoglobulin A). At that point, Sanchez was told that her breast milk was not only good for him, but was keeping him healthy.
“In June he seemed to be stable but in August, I took some pictures of my son and I noticed his head seemed to be an odd shape,” Sanchez, a licensed practical nurse (LPN), said. “But I thought I was starting to be overly critical of my own child and needed to relax. When we went to see his pediatrician for his four-month check-up, I waited to see if the doctor would mention his head, but he didn’t so I asked him myself if he thought W.J.’s head was OK. He really didn’t think anything was wrong but sent us for a CAT scan anyway.”
At first, the doctor said everything seemed normal, but the next day he called back and said the radiologist changed his mind after doing some research and said W.J. had craniosyntosis.
“I remember screaming and looking up the words sagittal suture craniosyntosis (the most common type) and seeing the videos and blogs with little babies with heads just like my son,” Sanchez said. “It was heart wrenching. I cried and told W.J. I was sorry.”
W.J. was taken to St. Christopher’s Hospital for Children in Philadelphia where the diagnosis was confirmed.
On Sept. 5, W.J. had surgery to remove part of his skull to make sure there was enough room in the skull to allow the brain to properly grow. His prognosis is good. He must wear a helmet 23 hours a day to protect his skull as it heals and to keep the sutures from fusing again too soon.
He will wear the helmet at least for the next year. Sanchez said W.J. is doing excellent due to his early diagnosis and surgery.
He has experienced no developmental delays so far and is quickly gaining weight.
Sanchez wants to raise awareness of the disorder in hopes people will recognize it in other children and they can be diagnosed before they suffer complications.
“I also want people to know that maybe when they see babies with helmets they won’t ask questions that hurt,” Sanchez said. “I’ve been asked on many occasions if he bangs his head or if he was dropped on his head. People in stores stare at us. I had a former coworker come up to me at the grocery store and tell me it’s my fault he wasn’t diagnosed until four months because I am his mom and should have known. I want people to know this is my son. He is just like your son. He just wears a helmet.”
Sanchez joined two online support groups that, she said, helped her tremendously. They are: www.craniocarebears.org and www.cappskids.org.
She urges parents to seek medical help if they think their child is not growing well, has an unusual head shape or has unusual raised ridges on the scalp.
“If you think there may be a problem, don’t hesitate to ask your doctor,” Sanchez said. “W.J.’s story has a happy ending and I want it to be that way for any child who suffers from this disorder.
To contact Debra Rech, email drech@cmcherald.com.