Ashley
Thanks to everyone for expressions of love, concern, and empathy during this difficult time for our family. To all who have been wondering:
Ashley was diagnosed with a condition known as lissencephaly. It literally means “smooth brain.” Ashley’s brain stopped developing early in the pregnancy due to a chromosomal defect (At this point, we don’t know if it was hereditary or random mutation). It caused the brain to stop maturing before the curvatures on the surface of the brain could be formed. Since this is the part of the brain that controls higher order functions like thinking, memory, learning, motor skills, coordination, etc., Ashley will suffer from full developmental delays in all these areas. Some people with partial lissencephaly—part of the brain smooth—can achieve progress in some of these areas. Unfortunately, Ashley’s entire brain is smooth, so chances are, she will not progress any further than where she is right now (two or three months, developmentally). Additionally, she will probably leave this earth sometime in early childhood—before age 10—and possibly before age two.
The main cause of death in lissencephaly sufferers is not the condition of the brain, but health issues that arise from the body not functioning properly—mainly of a respiratory nature, like pneumonia. Certain newborn reflexes like sucking go away at around five months of age and transform into cognitive activities which require infants to think about how to suck with the mouth muscles, when to breath, and when to swallow while feeding. So it is typical for liss. babies to start aspirating (choking while feeding and breathing fluid into their lungs) once they lose their sucking reflex. As a result, most liss. babies require feeding tubes to avoid developing aspiration pneumonia, which can be fatal. Ashley is at this point now. For the most part, she cannot suck, so we have to squirt formula into her mouth with an oral syringe. She does choke often, but as long as we can orally feed her, we will. Ashley is still able to swallow and thoroughly enjoys her baby food—via spoon or syringe.
Because of the immaturity of Ashley’s brain, she suffers from some other neurological issues, including several seizure disorders. Currently, Ashley is on two seizure meds which control typical seizures—though she is being weaned off of one of them—and another med to control infantile spasms, also known as West Syndrome. The drug which controls the infantile spasms may cause permanent peripheral vision loss or blurred vision, so we are praying this is not the case with Ashley…we’d hate for her to lose one of her few senses which seem to function normally.
Though we are still heartbroken, we are at peace with the circumstance God is allowing us to endure. Please feel free to ask questions if you have them. We are open to discussion. If you would like to know more about lissencephaly, check out the following:
http://en.wikipedia.org/wiki/Lissencephaly
http://www.specialchild.com/archives/dz-015.html
http://www.healthline.com/galecontent/lissencephaly
Ashley was diagnosed with a condition known as lissencephaly. It literally means “smooth brain.” Ashley’s brain stopped developing early in the pregnancy due to a chromosomal defect (At this point, we don’t know if it was hereditary or random mutation). It caused the brain to stop maturing before the curvatures on the surface of the brain could be formed. Since this is the part of the brain that controls higher order functions like thinking, memory, learning, motor skills, coordination, etc., Ashley will suffer from full developmental delays in all these areas. Some people with partial lissencephaly—part of the brain smooth—can achieve progress in some of these areas. Unfortunately, Ashley’s entire brain is smooth, so chances are, she will not progress any further than where she is right now (two or three months, developmentally). Additionally, she will probably leave this earth sometime in early childhood—before age 10—and possibly before age two.
The main cause of death in lissencephaly sufferers is not the condition of the brain, but health issues that arise from the body not functioning properly—mainly of a respiratory nature, like pneumonia. Certain newborn reflexes like sucking go away at around five months of age and transform into cognitive activities which require infants to think about how to suck with the mouth muscles, when to breath, and when to swallow while feeding. So it is typical for liss. babies to start aspirating (choking while feeding and breathing fluid into their lungs) once they lose their sucking reflex. As a result, most liss. babies require feeding tubes to avoid developing aspiration pneumonia, which can be fatal. Ashley is at this point now. For the most part, she cannot suck, so we have to squirt formula into her mouth with an oral syringe. She does choke often, but as long as we can orally feed her, we will. Ashley is still able to swallow and thoroughly enjoys her baby food—via spoon or syringe.
Because of the immaturity of Ashley’s brain, she suffers from some other neurological issues, including several seizure disorders. Currently, Ashley is on two seizure meds which control typical seizures—though she is being weaned off of one of them—and another med to control infantile spasms, also known as West Syndrome. The drug which controls the infantile spasms may cause permanent peripheral vision loss or blurred vision, so we are praying this is not the case with Ashley…we’d hate for her to lose one of her few senses which seem to function normally.
Though we are still heartbroken, we are at peace with the circumstance God is allowing us to endure. Please feel free to ask questions if you have them. We are open to discussion. If you would like to know more about lissencephaly, check out the following:
http://en.wikipedia.org/wiki/Lissencephaly
http://www.specialchild.com/archives/dz-015.html
http://www.healthline.com/galecontent/lissencephaly
posted by babybrj | 7:22 PM
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