I finally talked to Dr. Robin, Harper's geneticist, concerning the CT scan results. He said that it looks like she has enlarged vestibular aqueducts. Here's a snippet I found from nicdc.nih.gov:
Research suggests that most children with enlarged vestibular aqueducts (EVA) will develop some degree of hearing loss. Scientists also are finding that five to 15 percent of children with sensorineural hearing loss, or hearing loss caused by damage to sensory cells inside the cochlea, have EVA. However, scientists do not think that EVA causes hearing loss. Instead, scientists regard EVA as an important clue about hearing loss and its possible causes. This information helps physicians talk with families about how their child's hearing loss may change over time.
The presence of EVA can be a symptom of a genetic disorder called Pendred syndrome, a cause of childhood hearing loss. According to a study by the National Institute on Deafness and Other Communication Disorders (NIDCD), approximately one-third of individuals with EVA and hearing loss have Pendred syndrome. With Pendred syndrome, the hearing loss is progressive, which means that a child will have less hearing over time. Some children may become totally deaf.
In addition to its association with hearing loss, EVA may also be linked with balance symptoms in a small percentage of people. However, the brain is very good at making up for a weak vestibular system, and most children and adults with EVA do not have a problem with their balance or have difficulty doing routine tasks.
The presence of EVA can be a symptom of a genetic disorder called Pendred syndrome, a cause of childhood hearing loss. According to a study by the National Institute on Deafness and Other Communication Disorders (NIDCD), approximately one-third of individuals with EVA and hearing loss have Pendred syndrome. With Pendred syndrome, the hearing loss is progressive, which means that a child will have less hearing over time. Some children may become totally deaf.
In addition to its association with hearing loss, EVA may also be linked with balance symptoms in a small percentage of people. However, the brain is very good at making up for a weak vestibular system, and most children and adults with EVA do not have a problem with their balance or have difficulty doing routine tasks.
This isn't great news but it isn't horrible news either. There are a number of syndromes that have much worse effects than Pendred (i.e. blindness, heart defects, etc.) I am very encouraged that the doctors may finally be heading in the right direction. Dr. Robin is consulting with several other doctors about the test results. He said that the genetic counselor would get back in touch with me soon.
I'm glad you guys finally have an answer... I'm sure you have mixed emotions but at least now you'll know what to expect, the right treatments, and it will give you a piece of mind! We saw Dr. Robin too, almost a year ago. I saw where it mentions vestibular weaknesses... we are dealing with that with Noah... it's common after you have a major surgery on the head/skull to experience a vestibular weakness (or as our therapists call it, "a fear of movement"). If it's something that ya'll are dealing with too, I've got some excercises that can help overcome it, that I can email to you.
ReplyDeleteKaty, my family is praying for you to find the answers to your prayers. I am so relieved for you finding out at least this much information and now you have a really good lead to go on. I wish you all the best!!
ReplyDeleteGreat blog! I hope you'll consider adding it to the aggregator at Deaf Village (www.deafvillage.com) -- we'd love to have you as part of our community!
ReplyDeleteKeep that encouragement! Please know that You, Harper, and Luke are all in my prayers. You are a great Mommy, and a strong one!
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