Definitive diagnosis
"A
baby is God's opinion that the world should go on." Carl Sandburg
Quick recap: At our 20-week ultrasound on October 9, the doctor found excess fluid on our child's brain. This past week, we traveled to Texas Children's Hospital for a fetal MRI and to meet with specialists. The trip was fruitful in the sense that a conclusive diagnosis was made. Now we deal with the ramifications of what we've been told.
Definitive Diagnosis
Baby Arielle has been diagnosed with agenesis of the corpus callosum, or malformation of the largest connective pathway in the human brain. It links the left and right sides, or hemispheres. Normally, this part of the brain develops by the 16th week of pregnancy. In rare cases, it only partially forms or fails to form all together. The later occurred in Arielle's case, meaning she has "complete" agenesis, or no corpus callosum.
Many of the same potential causes for hydrocephalus that have already been ruled out for us also cause this defect. In most cases, they don't know "why" it happens. Once this part of the brain fails to develop, it will not form later. Estimates of the frequency vary greatly. Recent studies in the United States suggest it occurs in approximately 1:4,000 live births, which is likely underestimated, according to the Corpus Callosum Research Program at the California Institute of Technology.
When this key part of Arielle's brain didn't form, extra fluid filled the space, thus leading to the initial diagnosis of hydrocephalus at our 20-week sonogram. Based on the more conclusive findings of the MRI, doctors believe the extra fluid and enlarged ventricles are merely a result of the failure of the corpus callosum to form. They found no reason to believe the fluid isn't draining properly, though it will continue to be monitored.
Additionally, a small cyst was also found on her brain. At this time, the MRI specialist said he wasn't concerned, but it is something else to monitor closely.
Prognosis
As with hydrocephalus, this could mean almost anything in terms of Arielle's brain development and function. Some people lead relatively normally lives, while others struggle with a wide variety of learning and/or physical disabilities and social disorders.
For the moment, the two most extreme possibilities appear to have been ruled out. Unlike hydrocephalus, this condition isn't considered potentially fatal. However, there is also zero chance of "self-correcting," and there is nothing that can be done surgically to correct the problem. The most "healing" we can hope for is that Arielle's brain finds other ways for her two hemispheres to communicate. Various kinds of tailored therapy can potentially help, and our goal is to provide Arielle with best care possible so she can adapt to the greatest degree possible and lead a fulfilling life.
Many people are familiar with the movie Rain Man, which was based on the real life of a man named Kim Peek, famous for his savant abilities. In the movie, Dustin Hoffman portrays a person with autism; however in real life, Kim Peek had agenesis of the corpus callosum, along with macrocephaly and damage to the cerebellum. Likewise, this defect is often misdiagnosed as autism/Asperger's disorder, and often results in symptoms similar to those conditions, as well as attention-deficit hyperactivity disorder (ADHD), and fixed interests and rituals similar to obsessive compulsive disorder (OCD).
The Future
While we are grateful to have a definitive diagnosis, the nature of defect itself means our future is incredibly unclear. In the short term, we anticipate our next step to be meeting with a neurologist. We hope the pregnancy itself progresses normally from this point on, and we able to have as regular of a delivery as possible.
Some babies exhibit detectable problems from birth on, while other children manage to mostly keep up with their peers until adolescence. In typical development, the fibers of the corpus callosum become more efficient as children approach adolescence, resulting in rapid gains in abstract reasoning, problem solving, and social comprehension. Thus, challenges may become more evident as Arielle grows into young adulthood.
Thank you to so many people that have expressed care, concern and interest in our situation. We will continue to provide updates as new information is available. We have no doubt it is the power of prayer, positive thinking and support we've already received that has carried us thus far. Please continue to keep us, and especially Arielle, in your thoughts and prayers.
- Travis, Mary Alice and Baby Arielle
Quick recap: At our 20-week ultrasound on October 9, the doctor found excess fluid on our child's brain. This past week, we traveled to Texas Children's Hospital for a fetal MRI and to meet with specialists. The trip was fruitful in the sense that a conclusive diagnosis was made. Now we deal with the ramifications of what we've been told.
Definitive Diagnosis
Baby Arielle has been diagnosed with agenesis of the corpus callosum, or malformation of the largest connective pathway in the human brain. It links the left and right sides, or hemispheres. Normally, this part of the brain develops by the 16th week of pregnancy. In rare cases, it only partially forms or fails to form all together. The later occurred in Arielle's case, meaning she has "complete" agenesis, or no corpus callosum.
Many of the same potential causes for hydrocephalus that have already been ruled out for us also cause this defect. In most cases, they don't know "why" it happens. Once this part of the brain fails to develop, it will not form later. Estimates of the frequency vary greatly. Recent studies in the United States suggest it occurs in approximately 1:4,000 live births, which is likely underestimated, according to the Corpus Callosum Research Program at the California Institute of Technology.
When this key part of Arielle's brain didn't form, extra fluid filled the space, thus leading to the initial diagnosis of hydrocephalus at our 20-week sonogram. Based on the more conclusive findings of the MRI, doctors believe the extra fluid and enlarged ventricles are merely a result of the failure of the corpus callosum to form. They found no reason to believe the fluid isn't draining properly, though it will continue to be monitored.
Additionally, a small cyst was also found on her brain. At this time, the MRI specialist said he wasn't concerned, but it is something else to monitor closely.
Prognosis
As with hydrocephalus, this could mean almost anything in terms of Arielle's brain development and function. Some people lead relatively normally lives, while others struggle with a wide variety of learning and/or physical disabilities and social disorders.
For the moment, the two most extreme possibilities appear to have been ruled out. Unlike hydrocephalus, this condition isn't considered potentially fatal. However, there is also zero chance of "self-correcting," and there is nothing that can be done surgically to correct the problem. The most "healing" we can hope for is that Arielle's brain finds other ways for her two hemispheres to communicate. Various kinds of tailored therapy can potentially help, and our goal is to provide Arielle with best care possible so she can adapt to the greatest degree possible and lead a fulfilling life.
Many people are familiar with the movie Rain Man, which was based on the real life of a man named Kim Peek, famous for his savant abilities. In the movie, Dustin Hoffman portrays a person with autism; however in real life, Kim Peek had agenesis of the corpus callosum, along with macrocephaly and damage to the cerebellum. Likewise, this defect is often misdiagnosed as autism/Asperger's disorder, and often results in symptoms similar to those conditions, as well as attention-deficit hyperactivity disorder (ADHD), and fixed interests and rituals similar to obsessive compulsive disorder (OCD).
The Future
While we are grateful to have a definitive diagnosis, the nature of defect itself means our future is incredibly unclear. In the short term, we anticipate our next step to be meeting with a neurologist. We hope the pregnancy itself progresses normally from this point on, and we able to have as regular of a delivery as possible.
Some babies exhibit detectable problems from birth on, while other children manage to mostly keep up with their peers until adolescence. In typical development, the fibers of the corpus callosum become more efficient as children approach adolescence, resulting in rapid gains in abstract reasoning, problem solving, and social comprehension. Thus, challenges may become more evident as Arielle grows into young adulthood.
Thank you to so many people that have expressed care, concern and interest in our situation. We will continue to provide updates as new information is available. We have no doubt it is the power of prayer, positive thinking and support we've already received that has carried us thus far. Please continue to keep us, and especially Arielle, in your thoughts and prayers.
- Travis, Mary Alice and Baby Arielle
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