Just hung up the phone with Genetics at CHOP. It seems that someone in the chain has dropped the ball. We had the testing done way back in April. We were told we would have the results in 4-6 weeks. No one called us. Not sure if I was supposed to call them...anywho....Not all of the results are in. The woman I spoke with said that some of the tests are absent...not sure if they weren't done or if the results just weren't posted to her file. I'm thinking someone went to lunch and forgot where they left off!! :-)
For the tests which we do have results....Pendred Syndrome, Negative. Thyroid test, normal. So at this time, the results are pointing away from Pendred. The gene mutation test results that they have in, are all showing negative....meaning all normal. So Connexin 26 and Connexin 30 are normal. That means that Kurt and I are not carriers of the mutated genes that are often attributed to hearing loss. Subsequently, Mikaela has that EVA (Enlarged Vestibular Aquaduct) in her right ear, and the gene that is attributed to that also came up negative.
They are also looking into the possibility of the malrotation being linked in some genetic relationship...not sure how, but once the rest of the tests are in, CHOP said they would explain that to me.
I should have the rest of the information in a week or so because of some people being out on vacation. Once we have all of the results, we will know if she is a case of Non-Sydromic Unexplained Hearing Loss.
Monday, June 23, 2008
Thursday, June 5, 2008
Yesterday's events
It was 5:30 a.m. and through the monitor I heard Mikaela whimpering in her sleep. I went in, put the bink in her mouth and she seemed to settle. When she woke up at 6:30, she seemed a bit fussy. And for those of you who know this girl, she is never fussy. I thought maybe she was extra hungry. I fed her and she was guzzling it a bit more than usual. She gave me two burps and we had about 2 ounces left and she started throwing up. UGH! I thought these days were over. I have been lulled into a false sense of security since she hasn't thrown up since March!
It is so heartbreaking! It comes out her nose, she can't catch her breath, she cries. It is just terrible. She threw up all six ounces she had eaten. She lost the color in her face and lips - like at 5 weeks. I rinsed off her arms and legs in the sink and wrapped her in a big beach towel and just held her. She fell asleep pretty quickly after that. She slept for about an hour and a half and woke up happy, with color in her lips and back to her old self. I gave her Pedialyte for the next feeding. Then slowly gave her formula later as the day progressed.
Didn't bother to take her to the doctors. The three times I took her in March, they had nothing to offer except changes to formula. Even though they didn't think it was an allergic reaction. I agree. I don't believe it is allergies either. I do have a theory for what is going on. I think her bowels are still not mature enough to handle anything other than this Alimentum stuff. To be honest, I had given Mikaela a tiny amount of sweet potatoes three times this week. I am talking like a two teaspoons at most each time. On Tuesday, she didn't have any, but Wednesday, she got sick. Maybe since she had surgery at 3 months old, maybe those first three months, her bowels weren't maturing like other infants do. Maybe her bowels are only the equivalent to four months old. And at four months, most moms don't give sweet potatoes. Oh...you might be thinking why didn't I give her cereal...I did...last month....she threw that up too! But that she threw up as I was feeding it to her. Not days afterwards - like her body couldn't process it. She threw up the cereal because she didn't like it! :-)
Now...to change the subject....
I want to share this link with all of you. I have emailed it out before, but I want it to be here on the blog for as long as the website has it up. This is the Deaf Performing Artist Network performing John Mayer's song Waiting on the World to Change and I absolutely LOVE this! Please take the three minutes and watch it through. Let me know your thoughts on it.
http://www.d-pan.com/index.php?option=com_content&task=view&id=35&Itemid=35
I still plan to blog about the cochlear implant. Soon.....just not today.
It is so heartbreaking! It comes out her nose, she can't catch her breath, she cries. It is just terrible. She threw up all six ounces she had eaten. She lost the color in her face and lips - like at 5 weeks. I rinsed off her arms and legs in the sink and wrapped her in a big beach towel and just held her. She fell asleep pretty quickly after that. She slept for about an hour and a half and woke up happy, with color in her lips and back to her old self. I gave her Pedialyte for the next feeding. Then slowly gave her formula later as the day progressed.
Didn't bother to take her to the doctors. The three times I took her in March, they had nothing to offer except changes to formula. Even though they didn't think it was an allergic reaction. I agree. I don't believe it is allergies either. I do have a theory for what is going on. I think her bowels are still not mature enough to handle anything other than this Alimentum stuff. To be honest, I had given Mikaela a tiny amount of sweet potatoes three times this week. I am talking like a two teaspoons at most each time. On Tuesday, she didn't have any, but Wednesday, she got sick. Maybe since she had surgery at 3 months old, maybe those first three months, her bowels weren't maturing like other infants do. Maybe her bowels are only the equivalent to four months old. And at four months, most moms don't give sweet potatoes. Oh...you might be thinking why didn't I give her cereal...I did...last month....she threw that up too! But that she threw up as I was feeding it to her. Not days afterwards - like her body couldn't process it. She threw up the cereal because she didn't like it! :-)
Now...to change the subject....
I want to share this link with all of you. I have emailed it out before, but I want it to be here on the blog for as long as the website has it up. This is the Deaf Performing Artist Network performing John Mayer's song Waiting on the World to Change and I absolutely LOVE this! Please take the three minutes and watch it through. Let me know your thoughts on it.
http://www.d-pan.com/index.php?option=com_content&task=view&id=35&Itemid=35
I still plan to blog about the cochlear implant. Soon.....just not today.
Tuesday, June 3, 2008
Probably more than you want to know!
Okay...this morning I was reading some emails from one of the yahoo groups I'm on and a mom posted a link to a page that really describes well where the sounds fall in an audiogram. Take a look if you are interested:
http://tinyurl.com/2bm2vn
Also, please feel free to post any comments you have on the blog itself. I am interested to know what you think/feel thus far. Thanks!
http://tinyurl.com/2bm2vn
Also, please feel free to post any comments you have on the blog itself. I am interested to know what you think/feel thus far. Thanks!
Monday, June 2, 2008
Some Questions
Several of you have asked about the last post and booth results. Many of you don't know what all that means. I will try to help here....
First, let's talk about the speech banana. This is the range at which language is spoken. Each sound has it's own frequency. The lower frequencies are sounds like long vowels... 'a', 'e', 'oo'. The highest frequencies are sounds like 'sh' and 's'. So, if Mikaela can't hear the higher frequencies - even with her hearing aids - the word "sign" might sound like "ign" to her. Or even worse. She may not even have access to the 'n' sound.
Here is something I "borrowed" from a website that gives a great example: (http://www.teachnet.ie/mhickey/classification.html
" The primary energy of vowels occurs more in the lower frequency range while the primary energy of consonants is in the higher frequency range. The vowels give power to the sound. The consonants are relatively weaker sounds but give intelligibility to speech (earinfo, 1996).
There is great difficulty in trying to cope with language without the important information-carrying consonants (Fraser, 1996).
Here are the opening lines of two familiar nursery rhymes. In the first all the vowels have been omitted and in the second, all the consonants have been omitted.
Tw-nkl- Tw-nkl- L-ttl- St-r
H-w - W-nd-r wh-r- y-- -r-
-a-- a-- -i-- -e-- u-
a -i-- -o -e--- a -ai- o- -a-e-
The sense in the first is relatively unimpaired, with the consonants giving the clues that are necessary. The second is difficult if not impossible, unless you are given the additional clue that it involves a boy and a girl going up a hill. This example illustrates the difficulties encountered by the child with a moderate, severe or profound hearing loss in a classroom situation. "
If you google speech banana diagram, the first small picture that shows up is the hand out I have been given. The website is (http://www.apsea.ca/images/banana.jpg). I can't quite get it big enough on my monitor to clearly show exactly at which frequencies the consonants fall....maybe you can.
Regardless, if you can imagine plotting a line beginning at 25 decibel loss and as you move across the page drop it 20 to 30 decibels at each frequency, you would drop out of the speech banana by 1000 or 2000 decibels. That's kinda how Mikaela's aided hearing results look.
I hope this gives a bit more clarification to what I posted about with regards to the booth results.
In my next post, I want to chat a bit more about my hesitation to getting the implant. I have to run as Nicole is pulling up in the driveway and I am watching her son Ean for a bit.
First, let's talk about the speech banana. This is the range at which language is spoken. Each sound has it's own frequency. The lower frequencies are sounds like long vowels... 'a', 'e', 'oo'. The highest frequencies are sounds like 'sh' and 's'. So, if Mikaela can't hear the higher frequencies - even with her hearing aids - the word "sign" might sound like "ign" to her. Or even worse. She may not even have access to the 'n' sound.
Here is something I "borrowed" from a website that gives a great example: (http://www.teachnet.ie/mhickey/classification.html
" The primary energy of vowels occurs more in the lower frequency range while the primary energy of consonants is in the higher frequency range. The vowels give power to the sound. The consonants are relatively weaker sounds but give intelligibility to speech (earinfo, 1996).
There is great difficulty in trying to cope with language without the important information-carrying consonants (Fraser, 1996).
Here are the opening lines of two familiar nursery rhymes. In the first all the vowels have been omitted and in the second, all the consonants have been omitted.
Tw-nkl- Tw-nkl- L-ttl- St-r
H-w - W-nd-r wh-r- y-- -r-
-a-- a-- -i-- -e-- u-
a -i-- -o -e--- a -ai- o- -a-e-
The sense in the first is relatively unimpaired, with the consonants giving the clues that are necessary. The second is difficult if not impossible, unless you are given the additional clue that it involves a boy and a girl going up a hill. This example illustrates the difficulties encountered by the child with a moderate, severe or profound hearing loss in a classroom situation. "
If you google speech banana diagram, the first small picture that shows up is the hand out I have been given. The website is (http://www.apsea.ca/images/banana.jpg). I can't quite get it big enough on my monitor to clearly show exactly at which frequencies the consonants fall....maybe you can.
Regardless, if you can imagine plotting a line beginning at 25 decibel loss and as you move across the page drop it 20 to 30 decibels at each frequency, you would drop out of the speech banana by 1000 or 2000 decibels. That's kinda how Mikaela's aided hearing results look.
I hope this gives a bit more clarification to what I posted about with regards to the booth results.
In my next post, I want to chat a bit more about my hesitation to getting the implant. I have to run as Nicole is pulling up in the driveway and I am watching her son Ean for a bit.
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