We had our much-anticipated appointment at University of Iowa Hospital & Clinics last week. Our stomachs were in knots as we hoped for "no change." With Usher Syndrome, it's a waiting game where the Retinitis Pigmentosa is concerned. It happens at different ages for different people. Generally, people with Type 2 would have a later development than those with Type 1. However, we were still feeling really nervous.
Audrena was a champ for Dr. D., the Pediatric Ophthalmologist, and her associates. She completed the exam, went through some medical questions, and then looked at the genetics report. That's where things got interesting. She explained it to us, and she said things just were not adding up for her. But she reserved judgement until we had talked to Dr. S. after lunch. Dr. S. is an ENT and is in charge of the OTOScope testing lab. So far, though, Audrena's eyes looked good, although she does have some features that were a little interesting to Dr. D. However, it was nothing to be concerned about.
We went to lunch feeling relieved, but we had more questions and were pretty confused at Dr. D.'s opinion of the genetics report. After we checked back in, we waited for Dr. S. And we waited. And we waited. He walked by once. And then he left. We waited, and Randy walked the halls with Audrena to keep her occupied. Dr. D. came out to get a cup of coffee. She explained that she and Dr. S. had been talking, and things were looking good. But she would wait until he called us back to explain. More questions. By that time, I was seriously puzzled.
Finally, Dr. S. returned, and we were called back. He came in and sat down with his report...the one signed by him...the one we had received from the geneticist we originally saw who gave us the Usher 2C diagnosis. He explained that Audrena has two unknown mutations along the Usher 2C gene. However, when tested against all the different databases, only one gene had the potential to be disease-causing. If we understood correctly, it takes two. Then he moved on to review Audrena's anatomy, or her clinical findings. She has an abnormal vestibular system. Usher Type 2 patients have normal vestibular function. She has abnormal cochleas, also generally not consistent with Usher Syndrome. She has profound hearing loss. Usher Type 2 patients typically do not have profound losses. She met some of her milestones later. Usher Type 2 patients meet their milestones on time. He explained that the genetics and clinical findings just do not match up with Usher.
At that point, Randy asked, "Are you telling us that she does not have Usher Syndrome?" I am a little foggy on what Dr. S. actually said because it was such a shock, but he said something like, with today's knowledge, he can say that Audrena does not have Usher Syndrome. In the future, who knows if they will find a new type of Usher Syndrome, or who knows if they will find some other gene. But right now, today, his report will be amended to clarify that Audrena's hearing loss is a recessive, unknown, non-syndromic hearing loss.
Whoa! That took a bit to sink in. We must have questioned him five different times, five different ways. It was just so hard to have gone through the grieving process and then have someone tell us in an instant that it's all ok. I questioned how so many doctors could have misinterpreted the genetics report. He and Dr. D. didn't really know. They were surprised, too, that no one caught it.
Randy and I did give blood because Dr. S. wanted to do a more complete genetic analysis on the three of us to see what he could find, although he expected it to take a year or more. He also mentioned other patients with the same inner ear structure issues and thought there might be potential for a research study.
Dr. D. left us with, "Isn't it nice to ONLY have to worry about her hearing?" Yes, yes it is. But we still couldn't quite believe it. So after the doctors left, the nurse smiled and said, "Would you like me to tell you again? She does not have Usher Syndrome. I can tell you as many times as you would like to hear it!" We kind of laughed, and then we cried. Thankfully she was quick to find a tissue for me!
We spent the long ride home in disbelief. I called Dr. L.'s nurse to give her the news. She was in the same skeptical state as we were. Is he sure? Is he really, really sure? She said Dr. L. would be calling me the next day because he would want to talk to us about it.
Sure enough, the next day Dr. L. called me on my lunch hour. He said, "Well, this is certainly a surprise!" I agreed and said we were not sure what to believe. In a nutshell, he told me that Dr. S.'s lab is one of the best in the country, and maybe one of the best in the world. If Dr. S. said Audrena does not have Usher Syndrome, then he believes Audrena does not have Usher Syndrome. If Dr. S. said her hearing loss is unknown, then there is no one else who will know what caused it. He is just that good. Actually, Dr. L. called Dr. S. "the man" for this type of genetic testing. If there is one person we have been able trust, through this journey, it's been Dr. L. He has never led us astray. So I ended the phone conversation thinking, "If he believes it, then I guess it's safe for me to allow myself to believe it, too."
However, we have spent so much time trying to convince ourselves things would be ok if Audrena had Usher Syndrome that now we find ourselves still trying to protect her eyes. Dr. D. changed her prescription, and when we ordered new glasses we ordered Transitions lenses. I suppose it's ok be cautious no matter what. It's just going to take awhile to work ourselves back to the idea that our baby girl is not going to go blind after all.
Dr. L. had said to me, "If I had to choose between 'unknown' and Usher Syndrome, I would choose 'unknown.'" I agree. We'll take it!
June 17, 2013
June 6, 2013
Time for an update.
UPDATE: I felt the need to come back and update this post as we have
learned that Audrena's Usher Syndrome diagnosis was a mistake. Here is the post where we learned she does not have Usher Syndrome.
It has been awhile, so I thought it would be a good time to update! We have just been so busy! Audrena is really taking to being bilateral. She knows when the headpiece falls off, and she either puts it back on by herself, or she comes to us and pats her ear to let us know. We do have the alert beep as well, so we usually know before she reaches us. However, we are trying to teach her to be independent with her implants.
We did have some question as to whether she was getting much from the new implant yet since we're still on the first set of programs. Daddy took Audrena to her programming appointment yesterday, and she repeated "bird" to him after he had said it. That was with just the new implant turned on. So it's good to know things are at least starting to sound ok to her. Sometimes it does take awhile for the brain to adapt to the new implant.
They took her into the sound booth, and of course she was just not into it. Audrena rarely cooperates in the booth. She would rather be exploring. Even with that, she did cooperate just enough for them to determine that she is at least at 35-40 decibels with just the new implant on her first sort of generic MAPP, 30-40 with the first implant, and 30-40 with both. Dr. M. from USD has always said (and others have told us as well) that 30-40 decibels is sort of the best expectation for cochlear implant recipients. We do know it's possible to do better. We know plenty of implant patients who hear at 15-25 decibels, and that is our goal for Audrena once she gets old enough to give the Audiologist some verbal information about how she is hearing during programming. Also, we have gotten booth tests with her first implant that showed 20-30. That, combined with what we see at home, are enough for us to believe that she is hearing better than yesterday's test suggests. Both of our Audiologists (Boys Town and USD) have said she could very well be hearing those softer sounds, but she is just not paying enough attention to them to be motivated to turn away from her toy when she hears them.
Also, I forgot to include in some of my previous posts that Audrena heard birds (this was before the second implant)! She heard them before she saw them! We were at the police department's Bike Rodeo at the high school, and there were finches in the rafters of the lunch room. We were eating, and suddenly Audrena looked up (way up) at the birds, pointed, and said, "Tweet tweet!" She had to have heard them because she had not been looking up at all. She was eating. When we first found out that Audrena was deaf, I would take her for a walk, listen to the birds, and wallow in self-pity that my baby girl would never hear those beautiful outdoor sounds like birds chirping. Birds are generally about 15 decibels on the audiogram (although the chart below shows them even softer), so I never expected that she would hear them with implants either. That moment in the high school lunch room was a really defining moment for me, one of those WOW moments that just takes my breath away whenever I think back on it.
Here is an audiogram chart so you can see what I am talking about. The yellow area is the speech banana, or the range that speech sounds fall into.
Another little hiccup to report...we may be headed back to the operating room. Yesterday, Dr. M. couldn't find the tube in Audrena's left ear. That's the one Dr. L. inserted in March. Granted, her tools may not magnify quite as much as an ENT's tools, and those tubes are tiny. But she is good, so I trust that if it was there she would have found it. We have an ENT appointment tomorrow morning to check it out. If it's not there, then Dr. L. will need to insert another one. It's such a minor procedure, but it would be the 6th ear surgery and the 7th time under anesthesia for Audrena. And there is always the possibility that she will need a tube in her right ear in the future. So if you are the praying type, say a little prayer that the tube is in place tomorrow, although I don't have much hope that it is. Next week is also our appointment at University of Iowa with the Pediatric Ophthalmologist who will monitor her Usher Syndrome and the doctor with the genetics laboratory that conducted the genetic testing. So please keep Audrena in your prayers that everything turns out well there, too!
On a more positive note, Audrena is really on a role with her speech and language, and she is making progress with her balance! She is saying new words all the time and starting to put them together. She is beginning to understand that there are different words for the same thing, and starting to use them interchangeably. For example, "woof woof," "puppy," and "dog." She also says, "Look at that," or "Look at those." Here are a few of her favorite words/phrases lately.
Look at that/those!
What's that?
Where go? (Where Daddy go?)
Get down!
Good job!/Very good!
NO!
Stop!
Mine!
And when you call her name, she answers with, "What?"
She has also learned "Kelton, "Ana" (for Reyana), and "Zach" (my nephew).
Although we always question whether we could be doing more for her, or whether there is something we are missing, we are so pleased with Audrena's progress!
It has been awhile, so I thought it would be a good time to update! We have just been so busy! Audrena is really taking to being bilateral. She knows when the headpiece falls off, and she either puts it back on by herself, or she comes to us and pats her ear to let us know. We do have the alert beep as well, so we usually know before she reaches us. However, we are trying to teach her to be independent with her implants.
We did have some question as to whether she was getting much from the new implant yet since we're still on the first set of programs. Daddy took Audrena to her programming appointment yesterday, and she repeated "bird" to him after he had said it. That was with just the new implant turned on. So it's good to know things are at least starting to sound ok to her. Sometimes it does take awhile for the brain to adapt to the new implant.
They took her into the sound booth, and of course she was just not into it. Audrena rarely cooperates in the booth. She would rather be exploring. Even with that, she did cooperate just enough for them to determine that she is at least at 35-40 decibels with just the new implant on her first sort of generic MAPP, 30-40 with the first implant, and 30-40 with both. Dr. M. from USD has always said (and others have told us as well) that 30-40 decibels is sort of the best expectation for cochlear implant recipients. We do know it's possible to do better. We know plenty of implant patients who hear at 15-25 decibels, and that is our goal for Audrena once she gets old enough to give the Audiologist some verbal information about how she is hearing during programming. Also, we have gotten booth tests with her first implant that showed 20-30. That, combined with what we see at home, are enough for us to believe that she is hearing better than yesterday's test suggests. Both of our Audiologists (Boys Town and USD) have said she could very well be hearing those softer sounds, but she is just not paying enough attention to them to be motivated to turn away from her toy when she hears them.
Also, I forgot to include in some of my previous posts that Audrena heard birds (this was before the second implant)! She heard them before she saw them! We were at the police department's Bike Rodeo at the high school, and there were finches in the rafters of the lunch room. We were eating, and suddenly Audrena looked up (way up) at the birds, pointed, and said, "Tweet tweet!" She had to have heard them because she had not been looking up at all. She was eating. When we first found out that Audrena was deaf, I would take her for a walk, listen to the birds, and wallow in self-pity that my baby girl would never hear those beautiful outdoor sounds like birds chirping. Birds are generally about 15 decibels on the audiogram (although the chart below shows them even softer), so I never expected that she would hear them with implants either. That moment in the high school lunch room was a really defining moment for me, one of those WOW moments that just takes my breath away whenever I think back on it.
Here is an audiogram chart so you can see what I am talking about. The yellow area is the speech banana, or the range that speech sounds fall into.
 | |
| From firstyears.org |
Another little hiccup to report...we may be headed back to the operating room. Yesterday, Dr. M. couldn't find the tube in Audrena's left ear. That's the one Dr. L. inserted in March. Granted, her tools may not magnify quite as much as an ENT's tools, and those tubes are tiny. But she is good, so I trust that if it was there she would have found it. We have an ENT appointment tomorrow morning to check it out. If it's not there, then Dr. L. will need to insert another one. It's such a minor procedure, but it would be the 6th ear surgery and the 7th time under anesthesia for Audrena. And there is always the possibility that she will need a tube in her right ear in the future. So if you are the praying type, say a little prayer that the tube is in place tomorrow, although I don't have much hope that it is. Next week is also our appointment at University of Iowa with the Pediatric Ophthalmologist who will monitor her Usher Syndrome and the doctor with the genetics laboratory that conducted the genetic testing. So please keep Audrena in your prayers that everything turns out well there, too!
On a more positive note, Audrena is really on a role with her speech and language, and she is making progress with her balance! She is saying new words all the time and starting to put them together. She is beginning to understand that there are different words for the same thing, and starting to use them interchangeably. For example, "woof woof," "puppy," and "dog." She also says, "Look at that," or "Look at those." Here are a few of her favorite words/phrases lately.
Look at that/those!
What's that?
Where go? (Where Daddy go?)
Get down!
Good job!/Very good!
NO!
Stop!
Mine!
And when you call her name, she answers with, "What?"
She has also learned "Kelton, "Ana" (for Reyana), and "Zach" (my nephew).
Although we always question whether we could be doing more for her, or whether there is something we are missing, we are so pleased with Audrena's progress!
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