Corpus Callosum

Elliott Sherr, M.D., Ph.D. of the University of California, San Francisco (UCSF) was among one of several presenters at the Chicago family gathering earlier this month. As a pediatric neurologist, Dr. Sherr has spent a significant portion of his career studying the brains of children with malformations, specifically agenesis of the corpus callosum. What is agenesis of the corpus callosum you ask? It is a when the corpus callosum, which is the connector of the two hemispheres in the brain, fails to develop normally. It may mean it doesn’t develop at all, or it may mean it develops, but it’s too short, too thin, or misshapen. This is a condition that occurs in the very early stages of pregnancy.

Dr. Sherr discussing his research on the corpus callosum. And if you're wondering, the corpus callosum is the solid white center piece in his image that looks (to me) like a slice from a bell pepper.

In the only study currently published about the DDX3X mutation, Patrick and I saw reference to agenesis of the corpus callosum, but assumed Emelyn did not have this condition. Her MRI conducted at 10 months old, read here locally by a radiologist, referenced her under developed hippocampus and enlarged ventricles, but there was no reference to agenesis of the corpus callosum. As part of the study we’ve enrolled Emelyn in through UCSF, we provided our MRI images to Dr. Sherr and his research team. Shortly after returning from Chicago we received their interpretation of the images. Emelyn, does indeed have a thinning of her corpus callosum.

So, what does that mean? The corpus callosum is a key player in allowing the right side of the brain to talk to the left side of the brain (and vice versa) in a synchronized way. Synchronized communication between the two hemispheres of the brain is what allows us to walk, talk, socialize, etc. If the corpus callosum (the connector) isn’t formed properly, the pathways from the left side to the right side (and vice versa) may misfire or not fire at all. When you ask Emelyn, “Are you ready to eat?” and you put your hands out, it’s going to take several seconds before she raises her little arms to be picked up. This is likely a result of her brain working much harder to connect the two sides, then send those signals down to the muscles of her arms.

Dr. Sherr isn’t just interested in the brain, he’s interested in the genes behind brain malformations as well. In a 2013 study, Dr. Sherr and other researchers found that 45% of the children with agenesis of the corpus callosum met the criteria for autism. It’s then that Dr. Sherr and his researcher look to genetics for a cause. And in cases like DDX3X, there appears to be a correlation between genetics causing the malformation. It’s research like this that will help us learn more about not only DDX3X, but other neurological disorders as well.

If you’re like me or any of the other parents listening to Dr. Sherr a few weeks ago in Chicago, you’re asking, can the brain somehow compensate for a faulty connector? And the answer is yes! There are certainly things that we can do to help our children build new pathways, however, it’s imperative that we do it when their young. Maybe you’ve know a child with autism, and with extensive therapy, he or she has been able to make huge strides to overcome his or her challenges. I can certainly think of a few of these children. Their parents started when they were young…they fought and they pushed and they’re still pushing…and as a result, new pathways are formed.

For Emelyn, we’re still trying to find ways to build new pathways while her brain is malleable. She’s certainly on the therapy circuit with each week consisting of hippotherapy, occupational therapy, speech therapy, physical therapy, and music therapy. She’s in a special education pre-school two half days a week. We’re exploring the possibility of other approaches, such as applied behavioral analysis and/or functional treatments. There are even diets we’re actively researching. I have only touched on a tiny portion of Dr. Sherr’s presentation, and I plan to share more about ways we can further the research, but I promised to create bite size, digestible pieces.

We walked away with so much from our trip to Chicago, and while there was no charismatic motivational speaker like a typical conference, we certainly walked away motivated. We’re motivated to challenge the status quo and to explore new options. We were inspired by each and every speaker, but more importantly, by the other families and young ladies in attendance. We’re pioneers in a sense and we’re leading the charge for our daughters’ futures.