So I get a call from the hospital clinic’s audiology department today to schedule a “sedated hearing exam” for Hannah. I had no clue what she was talking about since Hannah passed her newborn hearing exam without any problems.
I GUESS Dr. G., the genetics doctor, ordered this exam. Nice of him to tell me it is coming! When I emailed him about it, I got this response…
We want to get the hearing test for Hannah in our attempts to determine if she has type I vs type III Gaucher disease. Subtle changes on the hearing exam (even if the newborn screen was normal) might be an early indication of type III Gaucher. The other test we will pursue to try and help determine this is to perform full gene sequencing of the Gaucher gene (to determine what mutation her second copy has).
Two things… how are they going to sedate her? And wasn’t this sequencing test supposed to be ordered immediately after we got the diagnosis??
The hearing test idea doesn’t bother me. The sedation part does. It is a 3-hour test apparently. She has never had to be sedated before for anything… I need to research this much more before February 18th (the scheduled day of the test).
Hannah is so beautiful! God bless you and your family.
I stumbled across your site by chance and thought I’d drop you a line. Our 2 1/2 year old son Connor does not have Gaucher’s Disease. However, he does have an extremely rare chromosomal disorder– so rare that he is the only one currently diagnosed with it. Because of the nature of some of his birth defects (he has about 25), we’ve been told to expect him to have between a 5-15 year life span.
We know what it’s like to be told that you have a child who is terminally ill. We spend our time trying to make him as happy as we can and to make sure he’s able to live a full a life as possible– however long he’s with us.
Connor’s been through quite a bit– he’s already had two major and one minor surgery, and he sees ten doctors and four therapists, so we can probably give you some info on a whole bunch of different medical procedures. 🙂
I would think that typically they would use a test called an ABR (Auditory Brainstem Response) test for checking your daughter’s hearing. That’s the one where they usually have to sedate the child. However, that one usually only lasts slightly less than an hour– I’m not sure about a hearing test that lasts three! Connor has sensorineural hearing loss, so we have sedated hearing tests about once every four months to check his hearing. Usually they only barely have to put him under; they give him just enough to make sure he’s quiet and not moving around. They usually use a sedative that they put in by IV. Since he has heart defects they monitor him very closely, but he’s been sedated for hearing tests five or six times at this point and has never had an issue. If your daughter doesn’t have any heart defects, then for this kind of sedation there’s probably fairly little risk. You’ll just want to make sure you talk with the anesthesiologist beforehand so they know what medications Hannah is taking and any medical issues (such as heart defects, lung issues, allergies, or narrow airway problems) that could potentially cause her to have issues under sedation.
I don’t know if that helps at all or if that’s the kind of info you are looking for, but we’ve been in your shoes, so let us know if there’s anything we can do. Best of luck to you and your family.
~Jessie McGuffey
http://connorssong.blogspot.com
I stumbled across your site by chance and thought I’d drop you a line. Our 2 1/2 year old son Connor does not have Gaucher’s Disease. However, he does have an extremely rare chromosomal disorder– so rare that he is the only one currently diagnosed with it. Because of the nature of some of his birth defects (he has about 25), we’ve been told to expect him to have between a 5-15 year life span.
We know what it’s like to be told that you have a child who is terminally ill. We spend our time trying to make him as happy as we can and to make sure he’s able to live a full a life as possible– however long he’s with us.
Connor’s been through quite a bit– he’s already had two major and one minor surgery, and he sees ten doctors and four therapists, so we can probably give you some info on a whole bunch of different medical procedures. 🙂
I would think that typically they would use a test called an ABR (Auditory Brainstem Response) test for checking your daughter’s hearing. That’s the one where they usually have to sedate the child. However, that one usually only lasts slightly less than an hour– I’m not sure about a hearing test that lasts three! Connor has sensorineural hearing loss, so we have sedated hearing tests about once every four months to check his hearing. Usually they only barely have to put him under; they give him just enough to make sure he’s quiet and not moving around. They usually use a sedative that they put in by IV. Since he has heart defects they monitor him very closely, but he’s been sedated for hearing tests five or six times at this point and has never had an issue. If your daughter doesn’t have any heart defects, then for this kind of sedation there’s probably fairly little risk. You’ll just want to make sure you talk with the anesthesiologist beforehand so they know what medications Hannah is taking and any medical issues (such as heart defects, lung issues, allergies, or narrow airway problems) that could potentially cause her to have issues under sedation.
I don’t know if that helps at all or if that’s the kind of info you are looking for, but we’ve been in your shoes, so let us know if there’s anything we can do. Best of luck to you and your family.
~Jessie McGuffey
http://connorssong.blogspot.com
I really admire your strength. my prayers to your cute li Hannah,I have daughter as well, I know you’re doing the best you can for your lil Hannah. Gobless!
Totally unrelated to hearing tests or Gaucher’s, but two of my three have had to be sedated — one at 10 months old. They handled it way better than I did. Talking to the doctor/anethesiolgist put my mind somewhat at ease. One of the doctors assured me that by the time a baby is 16 lbs., its risks during sedation are the same as an adult’s.