A local boy struggles with a rare disorder
Katherine and Dean of Irvine may never hear their son clearly say, “I love you” or watch him catch a foul ball in Little League. They may miss the chance to send him off to college or see him marry the love of his life. But what they do get to see, every single day, is hope.
The couple’s son, Joshua, is 3 and was born with a disorder of the corpus callosum in which the largest connective pathway in the brain is underdeveloped. In his particular case, Joshua has a thinning of the corpus callosum, a disorder called hypoplasia. The disorder manifests in a variety of ways, most notably as developmental delays in speech, movement and brain function.
Not knowing what each day will bring, Katherine and Dean have chosen to celebrate even the tiniest bit of their son’s progress while still “holding it with a loose hand,” Katherine said.
For Dean, the day Joshua managed to utter “Dada” for the first and only time was remarkable.
“He loves going on long runs with me in the stroller,” he said.
It’s the days spent swimming in the pool that help Katherine feel most connected to her son. Although typically slow in mobility, Joshua dips and spins when in water, laughing the entire time.
How does the disorder manifest?
Disorders of the corpus callosum cause challenges in social development and poor motor coordination. People with the disorder can often learn something and then forget or unlearn it the next day. For example, Joshua, uttered “go” for weeks, then one day just stopped saying it.
Although the disorder’s traits vary case by case on a wide spectrum, Joshua’s hypoplasia presents itself in specific ways. He didn’t walk until he was 18 months old, struggles to use both hands at once, doesn’t speak, and has trouble engaging and making eye contact. For 12 hours a week, Joshua is visited by a variety of specialists including behavioral, physical, occupational and speech therapists.
About 1 in 3,000 children born in the United States suffers from a disorder of the corpus callosum, according to Barbara Fonseca, the business director of the National Organization of Disorders of the Corpus Callosum, based in Yorba Linda. Because the disorder is somewhat rare and relatively unknown, research is still growing, but neurologists pin the development and possible disruption of the corpus callosum to weeks five through 16 of pregnancy.
As with many heartbreaking disorders and diseases, hypoplasia has a host of possible causes. According to Fonseca, current research points to a genetic component, meaning some families may be more at risk. But that doesn’t necessarily rule anyone out. As the corpus callosum develops, a few factors can cause a disorder during pregnancy, including toxic metabolic conditions like Fetal Alcohol Syndrome, infections or viruses, blockage of the growth of the corpus callosum like cysts and chromosomal abnormalities, Fonseca said.
Dean and Katherine can’t point to any specific cause of their son’s disorder. By all accounts, Katherine had a healthy, normal pregnancy. It wasn’t until Joshua was 1 that they even knew something was seriously wrong.
The confusing road to a diagnosis and treatment
Born 8 pounds, 10 ounces, Joshua has bright red hair that matches his luminous smile. He tends to kiss his parents with his entire mouth and has a weakness for salty Goldfish crackers. Currently, his favorite book is a children’s Bible, which he chooses night after night for his parents to read to him. His older sister, Charlotte, age 4, loves to wrap her arms around his shoulders and hug him until he squirms. In many ways, Joshua is a very typical 3-year-old, yet he struggles to communicate and connect to the world around him.
“I just wish I could talk to him to know what he’s thinking and how he’s feeling,” Dean said.
Following Joshua’s first birthday in November 2014, Katherine took her son to the doctor to check off his milestone markers. While trying to juggle the chaos of two children under 3, Katherine sped through the appointment, affirming that Joshua had hit each benchmark. It wasn’t until later that she felt hit by a wave of uncertainty.
“After I left, I thought, is he really saying ‘mama’ and ‘dada’? ” she said. “The appointment got my wheels turning, and I just started observing and getting worried at the end of January and February. Something was just not right.”
As a licensed clinical social worker, Katherine went into diagnostic mode, gathering evidence on her son’s well-being. Compared with his sister, who could manage full sentences by 15 months, Joshua was behind, not even stringing together words. Plus, his motor skills were lacking, and he wasn’t walking.
After seeing the signs of developmental delays, Katherine decided to call the Regional Center of Orange County in Santa Ana. Contracted by the state of California, the nonprofit provides services and support for people with developmental disabilities. Because the Regional Center offers early intervention for children through age 3, Katherine decided to give the group a call to see if it could provide some insight into Joshua’s situation.
“When this whole thing started, I was just looking for someone to tell me I was being neurotic,” Katherine said.
But instead of telling Katherine her concerns were unwarranted, the Regional Center sent an evaluator to assess Joshua’s situation. After a couple of tests, the evaluator recommended Joshua be checked out by United Cerebral Palsy of Orange County in Irvine because of the organization’s understanding of brain disorders. It was there that Katherine and Dean learned their son had a “pervasive delay.” They were told that at 15 months old, that Joshua had the speech skills of a newborn to 3-month-old.
“So you spend the first year of your son’s life imagining prom, driving, college and all these things,” said Katherine. “That’s just what you do. It’s not that you put your dreams on your kid, but you dream for them, and then all of a sudden, 15 months into it, everything’s changed.”
In June 2015, Joshua had an MRI that showed a mild thinning of his corpus callosum. The doctor broke the news to Katherine over the phone. “After talking to the doctor, I fell on the floor just sobbing,” she said. “This isn’t something that is going to get better. We are not going to catch him up, and everything isn’t going to be fine.”
Moments later, Katherine called Dean at work. Before she said anything, she told him to close the door to his office.
“I had no idea what it was but I knew it wasn’t good,” said Dean. “I knew that he had a mild thinning of the corpus callosum, but she could have been speaking Spanish. I knew they found something in his brain and it wasn’t good.”
While Dean and Katherine digested the news over the next few weeks, Joshua’s future remained uncertain. People with disorders of the corpus callosum vary greatly, Fonseca says. In adulthood, some people go to college and hold full-time jobs, while others, like her 18-year-old son, don’t speak.
Interestingly, those missing their entire corpus callosum are not necessarily worse off than those with only fractions. “Hypoplasia can be more severe because the brain is trying to make the connections, but not all the fibers are there,” Fonseca said. “Whereas if you are missing the corpus callosum completely, your brain will naturally form pathways back and forth.”
Another reason disorders of the corpus callosum are so rare, according to Fonseca, is that it is often misdiagnosed. “A lot of these kids are diagnosed with ADD, ADHD or autism, and there are some people who have both,” she said. “The problem is autism is a behavioral diagnosis, whereas a disorder of the corpus callosum is a medical diagnosis and the treatment is different.”
The only sure way to find out if someone has a disorder of the corpus callosum is through an MRI, Fronseca says. She has met multiple people who found out they had a disorder only after undergoing an MRI following a head trauma late in life. There is no standard for the disorders. They vary by individual diagnosis, and therefore there is no real way to know what to expect.
Joshua’s parents decided to do what they could to improve his development by signing him up for a variety of therapies through the Regional Center.
On two sides of an emotional spectrum, Katherine and Dean are handling Joshua’s disorder differently. Dean withdraws, while Katherine needs to verbalize her experience. The pair agree the gap in communication has been tricky to navigate.
“It’s scary because statistically, it’s not great. Having a child with special needs places a great deal of stress on marriages. You have to make a conscious effort to not be consumed by the road ahead, to laugh together, to go out on dates. I guess that’s true for any relationship,” Katherine said.
Although research that suggests parents of children with disabilities are more susceptible to divorce is somewhat weak, the stress of a new schedule coupled with a confusing medical system can definitely put a strain on a marriage. “I’m a social worker and I struggle to navigate his medical care,” Katherine said.
“For me, so much of dreaming differently for Joshua and speaking hope into his life is what I whisper to him each night – ‘No eye has seen, no ear has heard, no mind has imagined, all that God has planned for Joshy’s life.’ ”
And as Katherine and Dean rewrite their life with an added chapter, they are holding out hope that Joshua’s future is bright. “If your parents don’t believe in you, how can you believe in yourself?” Katherine asked. “If you have parents who speak negatively into your life, you have to overcome that. I am going to speak hope over Joshua’s life. I am going to dream for him, and if he struggles, I will walk with him through the struggles. He will always have a cheerleader in Dean and me.”