They found out their son Theodore had hydrocephalus when Madeline was 20 weeks pregnant. However, when Theodore was just a few days old, the new parents received surprising news.
“It wasn’t until he was roughly 3-5 days old that a genetics specialist suggested that it was possible our son had a rare genetic disorder called L1 Syndrome. We then had him tested and it was confirmed to be true,” Madeline explained. “Before we had our son we had no clue this syndrome even existed, let alone that there was a chance our son could have it.”
L1 Syndrome, also known as X-linked hydrocephalus, is a rare genetic disorder that occurs in about 1 of 30,000 births (Edwards 1961) and occurs primarily in males. The disease is mainly characterized by hydrocephalus, spasticity of the lower limbs (muscle stiffness), adducted thumbs (clasped towards the palm), aphasia (difficulty with speaking), seizures, and agenesis of the corpus callosum (underdeveloped or absent connecting tissue between the left and right hemispheres of the brain). (Learn more about L1 Syndrome.)
Theodore’s prognosis wasn’t easy to hear. The doctors predicted that he would be severely disabled and wouldn’t even be able to eat on his own. Thankfully, 16-month-old Theodore has gone on to surprise his parents and defy the odds.
“He truly is capable of anything he sets his mind to. We were once told that he may never eat off a spoon; that he would be tube-fed his whole life. But he has been eating off a spoon since he was 6 months old. L1cam boys are warriors and they never give up,” Madeline says.
However, Theodore does needs help so he can continue to grow and thrive. He uses special equipment and attends physical therapy to help him reach his full potential. At his home, he makes use of a special chair for sitting and feeding. He also wears a special vest for trunk support, a Hensinger collar for head support and braces for leg stability. When Theodore was an infant he wore a helmet to correct his flat head and joe cool bands to help mobilize his adducted thumbs.
“The most difficult part about raising a son with L1cam is that no two cases are the same. You can read every study, and comb through all the research but no one can tell you for sure what your child will be like a couple of years or decades in the future,” Madeline said.
One thing she’s learned that in a lot of ways Theodore is just like other kids. He loves movies, like Chicken Little, The Lion King, Coco and Dora the Explorer. He’s curious and has a unique personality already at less than 2 years old.
Her hope is that Theodore continues to improve and thrive, and surprise everyone.
“We want our son our son to live a long, happy and healthy life and we never want him to feel discouraged because of his L1,” she said.