After Luke took a tumble from a deck and was taken to the children’s hospital in Louisville, a CT scan was performed. The ER doctor excitedly told us that he didn’t have any injuries related to the fall, but the radiologist noted an abnormality called blahblahblahblah. (No joke, that’s what the word sounded like to me.) She said that it was absolutely nothing to be concerned about – it was just an abnormal patterning of grey and white matter in his brain. Blahblahblahblah couldn’t cause any developmental delays or issues, it was just something that should be followed up at some point. The doctor added that she thought that it could be an explanation for Luke’s hearing loss. Being really overwhelmed with the situation, I didn’t ask any questions but asked if she could write blahblahblahblah down so I knew what she was talking about. I could hardly process the word, let alone spell it. She handed us Luke’s radiology report as we were leaving.
That evening, I did what every non-medical-field parent does … I Googled it. Blahblahblahblah turns out to be a little something called schizencephaly (pronounced skis-n-ceff-ah-lee). From the extremely limited amount of information I could find, it didn’t give me warm fuzzies. I was actually pretty worried. The National Institute of Neurological Disorders and Stroke define it as ‘an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, mental retardation, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.’ We were confused, and scared, and Google was only offering medical articles and sterile definitions. It sounded really rare. We thought, there’s no way Luke has that – right? Obviously the ER doctor had no idea what it was.
Once we arrived back to St. Louis the next day (Tuesday), we had a follow-up visit for his fall with the nurse practitioner at Luke’s pediatrician’s office (his pediatrician was out-of-town). As she was looking him over, we explained what the radiologist in Louisville found and that we were supposed to follow-up with someone. The nurse practitioner had never heard of schizencephaly. She said that she was going to do some research, talk with our pediatrician, call their radiologist and neurologist, and let me know the plan. The next morning I was told that a sedated MRI for Luke was scheduled for Friday and an appointment with a neurologist was set for Monday. Nervous that the process seemed to be expedited and anxious to get some answers, we brought Luke to have his sedated MRI.
The weekend seemed to drag on. We kept praying that it was a misdiagnosis. I kept trying to find as much as I possibly could about schizencephaly so I was prepared for the appointment and knew what questions to ask. Not surprisingly, it was a bad idea. I read that children with schizencephaly can have a shortened life expectancy and can lose functions. I wanted answers, but was terrified for what they might be. The day of the appointment arrived, and my stomach was in knots. I had printed off and filled out all the paperwork for the neurologist the week before, but nervously left it at home. Definitely wasn’t bringing my A-Game. We were finally called back to meet with Dr. Steven Rothman. Before he would go over the results, Dr. Rothman wanted to hear a full history on Luke. We talked all about my pregnancy, delivery, Luke’s development, and Luke’s hearing loss. We talked about our family history and background. We talked about Luke’s fall and how we found ourselves in his office. Dr. Rothman then did a full physical assessment. He watched Luke play and walk. He checked his eyes and muscle tone. He talked to Luke and was happily surprised when Luke spoke back to him. I kept trying to fish information out of him. I asked Dr. Rothman if he has the MRI scans and if he’s seen them. He said that he had the scans but hadn’t looked at them. However, he had read the radiology report. Before he asked to step out and pull the scans up, he told us that the diagnosis was confirmed.
The doctor left so he could pull up the scans to show us. Alex and I were stunned. We both kept looking at each other saying, ‘I can’t believe he has it’. I kept telling Alex things I wanted to make sure we asked. Alex kept telling me to calm down. I think he was directing it at both of us. We were shocked and scared. We still didn’t know exactly what it meant. After what seemed like 400 years, the doctor came back in to grab us. He brought us to his office and walked us through Luke’s scans. Luke has closed-lip schizencephaly in his right parietal region. Without being a radiologist, it was clear that a section of his parietal region is missing.
We headed back into the examination room so Luke could play with toys while we talked further. Dr. Rothman explained that schizencephaly is extremely rare (less than 1% of the world’s population has it – why can’t we have that luck when we buy lotto tickets?) and that he thinks it’s a genetic defect. There are other theories that think it is caused by injury or a virus when the mother is pregnant. Dr. Rothman said that we could do genetic testing, but recommended that we wait for the technology to advance and the price to drop. Plus, we aren’t planning on having more children in the near future, if at all. That could potentially be helpful information if we decide to have another child. He said that he’s had a handful of cases and that, based on symptoms, Luke is the most mild he’s seen. There is no cure – you can only treat the symptoms with medication or therapy. Schizencephaly isn’t progressive, so we know the cleft (or hole) won’t get larger. Because of how well Luke is currently developing, Dr. Rothman isn’t concerned about Luke losing abilities or functions in the future. Dr. Rothman feels like Luke’s hearing loss is unrelated to his schizencephaly. He’s also confident that Luke will be able to learn in the future, because he is able to learn now. What we don’t know is if more complex learning functions are going to be impaired as he gets older and starts learning more complex things. Issues, or symptoms, are related to the areas that the schizencephaly is present. We know that Luke’s cleft is in his right rear parietal region. Research says that area of the brain controls spatial relationships, or how things relate to one another in space. It is also an area of sensory processing and visualization. Also, there is a section that dictates motor functions for the left side that lays just in front of Luke’s cleft. Currently, Luke is strong in all areas that can be tested. Dr. Rothman was sure to tell us that he doesn’t foresee any reason why Luke would have a shortened life expectancy.
Dr. Rothman went on to explain that a child’s brain can rewire or retrain itself to make up for areas that aren’t working. A child that is born with a deficit can overcome that deficit by retraining other areas of their brain to compensate. If the brain injury is acquired, there is a smaller likelihood of that happening. We explained that when Luke was learning to feed himself, he would only use his right hand. You could hold his right hand down and he refused to eat. We noticed it for a while. Eventually, he started using his left hand and now prefers it. Dr. Rothman thinks that it was an example of Luke retraining his brain. Pretty amazing, if you think about it.
The neurologist went on to tell us that children with schizencephaly have an increased risk of epilepsy. There’s no way of knowing if or when Luke would have a seizure, but there’s a higher likelihood that he will because of this deformity. Dr. Rothman told us what to look for (seizure behaviors) and what to do if Luke were to have one. Because we know that Luke has schizencephaly, he would be put on medicine to control any further seizures. Hopefully, we never have to cross this bridge.
We left the neurologist’s appointment feeling a bit odd. Obviously we were relieved that even though Luke has a cleft in his brain, he’s not currently showing any delays or weaknesses from it. However, it’s never a good feeling to know that your child has a piece of his brain missing. Since the appointment, we’ve had a long talk with our pediatrician. She was amazed that Luke was positively diagnosed with schizencephaly because his development was on track. She agreed that there’s nothing to do now but wait and watch. She said that since we know he has it, we’ll have a lower threshold of when to act if a developmental delay appears.
We feel like we dodged another bullet – his outcome could have been so much different if the cleft was larger or located in a slightly different spot. We know that we are extremely lucky. The issue now is, we are in a prolonged ‘wait and see’ pattern. Since we now know this information, we can’t un-know it. We are forced to wait, watch, and pray for the best. If I know Luke (which I think I do), everything is going to be a-okay!