Results tagged “medical update” from Arielle
Just a quick note to let everyone know Arielle Elizabeth Kaspar arrived February 15th at 4:49 PM. 6 lbs 8 oz, 19.5 inches via c-section. While we know we're biased, lots of other nurses at the hospital indicate she is, in fact, extra adorable.
Delivery and recovery has been more trying than anticipated. Bleeding problems occurred, prompting a more intense c-section, and a blood transfusion followed. As many of you know, Arielle was diagnosed in-utero with a birth defect that we were warned could impact a wide variety of functions. One of those is sight. An ophthalmologist concluded she is likely blind in one eye, which both didn't form properly, nor does it communicate correctly with the brain, making it something that is not fixable. While such news is tough, we are grateful all appears well with the other eye and she should be able to live life as a "seeing" person. Other than that, all functions are high. And mama can tell you she seems to be eating well, that's for sure!
Once again, thanks to everyone who has reached out with calls, thoughts, prayers, etc. Keeping up with everything is very tough at the moment. Email is the best way to communicate with us for the time being. Thanks!
Mary Alice, Travis & Arielle
“Every baby is a blessing.” - Author
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Quick recap: At our 20-week sonogram in early October, it was discovered our daughter’s brain wasn't forming properly. The initial diagnosis was hydrocephalus, but a subsequent MRI determined the main pathway that connects the two halves of the brain didn't form. It’s called complete agenesis of the corpus callosum, or C-ACC.
We're happy to report some positive developments over the past month...
Two key visits
Our most recent sonogram appointment on Thursday revealed that not only have the enlarged ventricles with the excess fluid remained stable, they now measure NORMAL. The sonogram technician didn’t even think she was getting accurate images at first based on Arielle’s charted history! Additionally, her head circumference, which has consistently been above the 90th percentile, has also fallen smack dab in the middle of the NORMAL range.
These developments are positive, as they mean there’s likely no additional pressure on her brain and we’re more likely to be able to have a normal delivery. Had her head remained anywhere above the 80th percentile, our OB/GYN was recommending a C-section.
Just before Christmas, we were finally able to get an audience with our new neurologist with Dell Children’s Medical Center here in Austin. We spent more than a month and a half on a waiting list being told we were a top priority for a cancellation slot that would seemingly not come. A friend/board member got wind of our situation, and within days, an after-hours appointment was created on our behalf. We’re grateful beyond words to that person for the behind-the-scenes nudge.
The visit was incredibly productive, informative and helpful. The doctor was able to answer a long list of questions we had prepared, or in some cases, explain why an answer wasn't known. The neurologist recommends moving forward as you would with any newborn, as Arielle’s early life needs likely won't differ from other children’s. Mary Alice had intended to continue working part-time from home, and he didn't see any reason for her not to progress as planned.
Grateful to know
One of the more interesting things we learned from the most recent doctors visits is C-ACC is most often NOT diagnosed before a child is born. In our case, the enlarged ventricles and excess fluid acted as a tip off to warrant an MRI. Ironically, it is those very two things that are now normal.
We assumed because a sonogram helped us with a diagnosis, the same held true for others. So we asked the neurologist what the latest stats were for prognosis now that detection was more common than say 30 years ago (What percentage of kids lead normal lives? Experience minimal impairments? Suffer more severe problems?). The reality seems to be experts don't really know because more often than not, it isn't detected in the womb...so most aren't tracked since birth. That’s also why it’s commonly misdiagnosed as other conditions, like autism.
We feel all the more grateful to have an accurate diagnosis as we know this increases our awareness, knowledge and ability to best care for our daughter. While nothing “corrects” C-ACC, individualized therapies have been proven to help.
Focused hopes/prayers
Many of you have been very gracious in offering prayers and other demonstrations of support, or asking how you can help. We’re mindful that within our audience are people from a variety of religions, or lack thereof, but we share a common intention that our daughter will lead a healthy and productive life. We are convinced all the positive energy has helped our spirits remain high. We furthermore credit all of you and the good Lord himself with the latest progress Arielle has made.
With that in mind, we ask everyone to keep up whatever it is they’re doing with the following intentions in mind:
- That Arielle’s ventricles and head size remain normal in size.
- That the two hemispheres of Arielle’s brain find other ways to communicate without the pathway its missing (it’s unclear why, but some brains seem to cope/compensate better than others).
- That Mary Alice’s challenges with anemia and fatigue not worsen (doctors were never able to get it to improve, and it’s known for worsening near the end of the pregnancy).
- That we’re able to find an experienced pediatrician for Arielle. The one the neurologist recommended no longer accepts new patients with our insurance, so our quest on that front continues.
- That delivery goes smoothly. Only six weeks to go!
Thanks to you all once again. Our next update may very well be a photo upon delivery.
- Mary Alice, Travis and Baby Arielle
Quick recap: At our 20-week sonogram in early October, it was discovered our daughter’s brain wasn't forming properly. The initial diagnosis was hydrocephalus, but a subsequent MRI determined the main pathway that connects the two halves of the brain didn't form. It’s called complete agenesis of the corpus callosum, or C-ACC.
We're happy to report some positive developments over the past month...
Two key visits
Our most recent sonogram appointment on Thursday revealed that not only have the enlarged ventricles with the excess fluid remained stable, they now measure NORMAL. The sonogram technician didn’t even think she was getting accurate images at first based on Arielle’s charted history! Additionally, her head circumference, which has consistently been above the 90th percentile, has also fallen smack dab in the middle of the NORMAL range.
These developments are positive, as they mean there’s likely no additional pressure on her brain and we’re more likely to be able to have a normal delivery. Had her head remained anywhere above the 80th percentile, our OB/GYN was recommending a C-section.
Just before Christmas, we were finally able to get an audience with our new neurologist with Dell Children’s Medical Center here in Austin. We spent more than a month and a half on a waiting list being told we were a top priority for a cancellation slot that would seemingly not come. A friend/board member got wind of our situation, and within days, an after-hours appointment was created on our behalf. We’re grateful beyond words to that person for the behind-the-scenes nudge.
The visit was incredibly productive, informative and helpful. The doctor was able to answer a long list of questions we had prepared, or in some cases, explain why an answer wasn't known. The neurologist recommends moving forward as you would with any newborn, as Arielle’s early life needs likely won't differ from other children’s. Mary Alice had intended to continue working part-time from home, and he didn't see any reason for her not to progress as planned.
Grateful to know
One of the more interesting things we learned from the most recent doctors visits is C-ACC is most often NOT diagnosed before a child is born. In our case, the enlarged ventricles and excess fluid acted as a tip off to warrant an MRI. Ironically, it is those very two things that are now normal.
We assumed because a sonogram helped us with a diagnosis, the same held true for others. So we asked the neurologist what the latest stats were for prognosis now that detection was more common than say 30 years ago (What percentage of kids lead normal lives? Experience minimal impairments? Suffer more severe problems?). The reality seems to be experts don't really know because more often than not, it isn't detected in the womb...so most aren't tracked since birth. That’s also why it’s commonly misdiagnosed as other conditions, like autism.
We feel all the more grateful to have an accurate diagnosis as we know this increases our awareness, knowledge and ability to best care for our daughter. While nothing “corrects” C-ACC, individualized therapies have been proven to help.
Focused hopes/prayers
Many of you have been very gracious in offering prayers and other demonstrations of support, or asking how you can help. We’re mindful that within our audience are people from a variety of religions, or lack thereof, but we share a common intention that our daughter will lead a healthy and productive life. We are convinced all the positive energy has helped our spirits remain high. We furthermore credit all of you and the good Lord himself with the latest progress Arielle has made.
With that in mind, we ask everyone to keep up whatever it is they’re doing with the following intentions in mind:
- That Arielle’s ventricles and head size remain normal in size.
- That the two hemispheres of Arielle’s brain find other ways to communicate without the pathway its missing (it’s unclear why, but some brains seem to cope/compensate better than others).
- That Mary Alice’s challenges with anemia and fatigue not worsen (doctors were never able to get it to improve, and it’s known for worsening near the end of the pregnancy).
- That we’re able to find an experienced pediatrician for Arielle. The one the neurologist recommended no longer accepts new patients with our insurance, so our quest on that front continues.
- That delivery goes smoothly. Only six weeks to go!
Thanks to you all once again. Our next update may very well be a photo upon delivery.
- Mary Alice, Travis and Baby Arielle
"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
