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!
Showing posts with label genetics team. Show all posts
Showing posts with label genetics team. Show all posts
June 17, 2013
April 22, 2013
Our rare flower...
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.
"The flower that blooms in adversity is the rarest and most beautiful of all." ~ Mulan
We have always known that Audrena is a rare, beautiful flower. Ok, so we think all three of our kids are perfect, handsome, beautiful little people, but Friday we found out just how genetically rare Audrena really is. At Boys Town, we met with two of the country's top Usher Syndrome researchers. One of them opened up our meeting by explaining that Audrena is one of only 20-25 people in the world diagnosed with Type 2C. That's right. Only 20-25 people in the entire world have been diagnosed with this particular type of Usher Syndrome. He said he has seen half of them, and the next youngest was around 18 years old. It's pretty remarkable that Audrena was diagnosed at two years old.
So what does that mean for us? Well, for starters, they can only tell us what they know, which is not a whole lot considering they have so few people to draw information from. However, they do expect Retinitis Pigmentosa to be mild for her, with night vision loss starting in the late teens and peripheral vision loss starting in the mid-twenties to thirties. If you ask me, "mild" is a relative term, considering that Usher Type 1 patients typically lose their vision at an earlier age and a faster pace. He explained that for them to participate in research studies, they need to have an assistant and usually a guide dog to travel. So I feel like it's all relative because for a "normal" person any vision loss is a big deal. Audrena may someday still need that assistant and that guide dog. It just might happen later in life for her. But we'll take it. Slower is better.
They were able to advise us about some things to protect her retinas, such as sunglasses and transitions lenses for her regular glasses. We asked about high doses of Vitamin A palmitate, but there is a fine line between slowing the retinal degeneration with the supplements and damaging other organs. Ultimately, we'll let the doctors help us navigate that path if it's an option.
We also discussed the genetics of Usher Type 2C. I didn't write down the statistics and can't remember what they told us, but suffice it to say that it was a freak thing for me and Randy to find each other. It's not likely for anyone in our families who happens to be a carrier to ever find a partner who is also a carrier. Likewise, our children should not worry too much. And then that brought us to our next question. Is it ever possible for a person to not have a hearing loss and still have Usher. The answer was that if our other children have normal hearing, then we shouldn't worry about them. Statistically, we have a 25% chance of having a child with Usher. Audrena just hit the jackpot, in more ways than one.
They discussed Audrena's abnormal vestibular system, the way her cochleas are wider at the opening and narrower at the opposite end, and they had reviewed the CT scan and operative report from her CI surgery. It was something new for them. Typically, a Type 2C patient doesn't have a CT scan because they are not diagnosed until roughly their mid-twenties and have only ever needed hearing aids, not cochlear implants. So they were unable to tell us whether any of Audrena's anatomical abnormalities are related to the Usher Syndrome, but they said it might very well be two different things happening to the same person.
Since we received the genetic test results, I have read a lot of news articles regarding research to cure Usher Syndrome and also Retinitis Pigmentosa. Many times I have heard that a cure is probably 10-15 years away. I asked them, "Would it be unreasonable for us to hope for a cure within 10-15 years?" The answer was no. It's not unreasonable at all. There has been progress with gene therapy, and things are moving along faster than what had been generally expected years ago. Plus, the actual research process is getting much less expensive, so they can do more with the funds they have available. One of them told us he expects Audrena to benefit from a cure because she is young, and she has time. She likely has that 10-15 years. That is what I call hope, right from the expert's mouth.
The appointment ended with them asking permission to do a write up for a medical journal about her case. Of course, we agreed because anything that helps the research toward a cure is a benefit.
We left the appointment feeling pretty good. The news was the best we could have hoped for, and our questions have been answered. Plus, they told us that we will be seeing the right doctors at University of Iowa. Audrena will be in good hands. We have hope. And we already know we have a small, mighty, rare flower who certainly IS blooming in the face of adversity.
"The flower that blooms in adversity is the rarest and most beautiful of all." ~ Mulan
We have always known that Audrena is a rare, beautiful flower. Ok, so we think all three of our kids are perfect, handsome, beautiful little people, but Friday we found out just how genetically rare Audrena really is. At Boys Town, we met with two of the country's top Usher Syndrome researchers. One of them opened up our meeting by explaining that Audrena is one of only 20-25 people in the world diagnosed with Type 2C. That's right. Only 20-25 people in the entire world have been diagnosed with this particular type of Usher Syndrome. He said he has seen half of them, and the next youngest was around 18 years old. It's pretty remarkable that Audrena was diagnosed at two years old.
So what does that mean for us? Well, for starters, they can only tell us what they know, which is not a whole lot considering they have so few people to draw information from. However, they do expect Retinitis Pigmentosa to be mild for her, with night vision loss starting in the late teens and peripheral vision loss starting in the mid-twenties to thirties. If you ask me, "mild" is a relative term, considering that Usher Type 1 patients typically lose their vision at an earlier age and a faster pace. He explained that for them to participate in research studies, they need to have an assistant and usually a guide dog to travel. So I feel like it's all relative because for a "normal" person any vision loss is a big deal. Audrena may someday still need that assistant and that guide dog. It just might happen later in life for her. But we'll take it. Slower is better.
They were able to advise us about some things to protect her retinas, such as sunglasses and transitions lenses for her regular glasses. We asked about high doses of Vitamin A palmitate, but there is a fine line between slowing the retinal degeneration with the supplements and damaging other organs. Ultimately, we'll let the doctors help us navigate that path if it's an option.
We also discussed the genetics of Usher Type 2C. I didn't write down the statistics and can't remember what they told us, but suffice it to say that it was a freak thing for me and Randy to find each other. It's not likely for anyone in our families who happens to be a carrier to ever find a partner who is also a carrier. Likewise, our children should not worry too much. And then that brought us to our next question. Is it ever possible for a person to not have a hearing loss and still have Usher. The answer was that if our other children have normal hearing, then we shouldn't worry about them. Statistically, we have a 25% chance of having a child with Usher. Audrena just hit the jackpot, in more ways than one.
They discussed Audrena's abnormal vestibular system, the way her cochleas are wider at the opening and narrower at the opposite end, and they had reviewed the CT scan and operative report from her CI surgery. It was something new for them. Typically, a Type 2C patient doesn't have a CT scan because they are not diagnosed until roughly their mid-twenties and have only ever needed hearing aids, not cochlear implants. So they were unable to tell us whether any of Audrena's anatomical abnormalities are related to the Usher Syndrome, but they said it might very well be two different things happening to the same person.
Since we received the genetic test results, I have read a lot of news articles regarding research to cure Usher Syndrome and also Retinitis Pigmentosa. Many times I have heard that a cure is probably 10-15 years away. I asked them, "Would it be unreasonable for us to hope for a cure within 10-15 years?" The answer was no. It's not unreasonable at all. There has been progress with gene therapy, and things are moving along faster than what had been generally expected years ago. Plus, the actual research process is getting much less expensive, so they can do more with the funds they have available. One of them told us he expects Audrena to benefit from a cure because she is young, and she has time. She likely has that 10-15 years. That is what I call hope, right from the expert's mouth.
The appointment ended with them asking permission to do a write up for a medical journal about her case. Of course, we agreed because anything that helps the research toward a cure is a benefit.
We left the appointment feeling pretty good. The news was the best we could have hoped for, and our questions have been answered. Plus, they told us that we will be seeing the right doctors at University of Iowa. Audrena will be in good hands. We have hope. And we already know we have a small, mighty, rare flower who certainly IS blooming in the face of adversity.
April 8, 2013
Usher Syndrome Type 2C
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.
Last week was hard, to say the least. Monday morning, Audrena had her two year well-check. While Randy was at the doctor with her, he received a call from the geneticist. Audrena's test results had come back. She has Usher Syndrome Type 2C. Our worst fears were realized. For those who are unfamiliar, Usher Syndrome is a deaf-blind genetic condition. It means that Audrena will eventually begin to lose her eyesight to Retinitis Pigmentosa. It will start with night vision loss and progress to loss of peripheral vision, leaving her with only central/tunnel vision. There is no cure.
Thankfully, Randy was at the doctor's office when he received the call. He had the opportunity to sit down with our much-loved family doctor for a heart-to-heart. She is such a wise woman! She said something to the effect of, "Listen to me. When you look at Audrena, don't see the label. SHE is NOT Usher Syndrome. SHE is Audrena. She is your beautiful baby girl, and she will be just fine." She had other things to say, too, but I wasn't there to hear them. Randy left with her home phone number in hand. She had given it to him in case we needed her after hours.
He came right home to tell me the news. It felt like someone literally ripped my heart out. My baby is going to go blind, and I can't stop it. As if being deaf wasn't enough. I cried. Hard. I think it was actually more emotionally taxing for me in those first hours than losing my parents. Sure, losing my parents was pure awful. Those were two of the worst times in my life! I don't want to belittle that at all! But you expect your parents to die at some point. You don't expect your child to be deaf AND blind. I wondered if she will ever drive a car, play sports, get married and have children, if she will do all those things that seeing people take for granted. I started immediately developing a bucket list in my mind of experiences I want her to have before she becomes legally blind: stargaze, walk on the beach, see the ocean, visit the grand canyon, read, read, read, etc.
It did get easier, though. I have said before that if I don't have information and a plan I am lost. So the first thing I did when I could compose myself enough was to e-mail two parents of children with Usher Syndrome. I needed information, and I needed firsthand advice. Thankfully, they were quick to respond with comforting words, resources, and hope.
We learned that Type 2C is one of the most rare and least aggressive types of Usher Syndrome. Of course, it varies from person to person, but the fact that we might have 10-15 good years before Audrena has any vision loss is helpful. There is a wealth of research happening right now, and things look promising. Gene therapy has restored vision in some children with LCA, a form of Retinitis Pigmentosa. And they are in the early stages of clinical trials for Usher Syndrome gene therapy. Other research targeted at RP is also happening. So with any hope, there might be medical advancements in time for Audrena to benefit from them. And we need to have hope.
In the meantime, our geneticist admitted to Randy that she is not very familiar with Usher Syndrome. But she worked hard to find him the answers to our immediate questions and quickly contacted an expert at the University of Iowa, who directed her to a pediatric ophthalmologist and a pediatric otolaryngologist who, if I understand correctly, is also in charge of the genetic testing. Audrena's genetic testing was done through that lab. Also, from what have read on the internet, the pediatric ophthalmologist specializes in juvenile inherited eye diseases and has been involved in rodent and human molecular trials for retinal disorders. We have been told my several doctors and even some parents that the University of Iowa, and this doctor, are some of the best in the country. So now we are working on getting an appointment set up with them.
We may not be able to beat Retinitis Pigmentosa, but we will sure do whatever we can to slow it down! I have been reading about the use of Vitamin A palmitate, DHA, and Omega-3 to slow down the progression. From what I understand, though, they cannot be used until age 6. But that's something we will ask the doctors about. We will also be looking into Transitions lenses and/or prescription sunglasses for Audrena because the sun's rays have been shown to speed up the progression of RP.
It might also be possible for us to meet with a doctor at Boys Town who works with Usher Syndrome. We should hear something about that in the coming days as well. A friend gave me two e-mail contacts: a person with Usher's and the parents of a child with Usher's. I searched for Usher Syndrome blogs, and I did e-mail a person who has Type 2. Our SD School for the Deaf Outreach Consultant provided me with two contacts as well. When we were getting familiar with cochlear implants, it helped to talk to people who had them, or whose children had them. This is the same situation for us. It is helping to connect with others who are affected by Usher Syndrome. And we will continue to hope and pray for a cure.
Last week was hard, to say the least. Monday morning, Audrena had her two year well-check. While Randy was at the doctor with her, he received a call from the geneticist. Audrena's test results had come back. She has Usher Syndrome Type 2C. Our worst fears were realized. For those who are unfamiliar, Usher Syndrome is a deaf-blind genetic condition. It means that Audrena will eventually begin to lose her eyesight to Retinitis Pigmentosa. It will start with night vision loss and progress to loss of peripheral vision, leaving her with only central/tunnel vision. There is no cure.
Thankfully, Randy was at the doctor's office when he received the call. He had the opportunity to sit down with our much-loved family doctor for a heart-to-heart. She is such a wise woman! She said something to the effect of, "Listen to me. When you look at Audrena, don't see the label. SHE is NOT Usher Syndrome. SHE is Audrena. She is your beautiful baby girl, and she will be just fine." She had other things to say, too, but I wasn't there to hear them. Randy left with her home phone number in hand. She had given it to him in case we needed her after hours.
He came right home to tell me the news. It felt like someone literally ripped my heart out. My baby is going to go blind, and I can't stop it. As if being deaf wasn't enough. I cried. Hard. I think it was actually more emotionally taxing for me in those first hours than losing my parents. Sure, losing my parents was pure awful. Those were two of the worst times in my life! I don't want to belittle that at all! But you expect your parents to die at some point. You don't expect your child to be deaf AND blind. I wondered if she will ever drive a car, play sports, get married and have children, if she will do all those things that seeing people take for granted. I started immediately developing a bucket list in my mind of experiences I want her to have before she becomes legally blind: stargaze, walk on the beach, see the ocean, visit the grand canyon, read, read, read, etc.
It did get easier, though. I have said before that if I don't have information and a plan I am lost. So the first thing I did when I could compose myself enough was to e-mail two parents of children with Usher Syndrome. I needed information, and I needed firsthand advice. Thankfully, they were quick to respond with comforting words, resources, and hope.
We learned that Type 2C is one of the most rare and least aggressive types of Usher Syndrome. Of course, it varies from person to person, but the fact that we might have 10-15 good years before Audrena has any vision loss is helpful. There is a wealth of research happening right now, and things look promising. Gene therapy has restored vision in some children with LCA, a form of Retinitis Pigmentosa. And they are in the early stages of clinical trials for Usher Syndrome gene therapy. Other research targeted at RP is also happening. So with any hope, there might be medical advancements in time for Audrena to benefit from them. And we need to have hope.
In the meantime, our geneticist admitted to Randy that she is not very familiar with Usher Syndrome. But she worked hard to find him the answers to our immediate questions and quickly contacted an expert at the University of Iowa, who directed her to a pediatric ophthalmologist and a pediatric otolaryngologist who, if I understand correctly, is also in charge of the genetic testing. Audrena's genetic testing was done through that lab. Also, from what have read on the internet, the pediatric ophthalmologist specializes in juvenile inherited eye diseases and has been involved in rodent and human molecular trials for retinal disorders. We have been told my several doctors and even some parents that the University of Iowa, and this doctor, are some of the best in the country. So now we are working on getting an appointment set up with them.
We may not be able to beat Retinitis Pigmentosa, but we will sure do whatever we can to slow it down! I have been reading about the use of Vitamin A palmitate, DHA, and Omega-3 to slow down the progression. From what I understand, though, they cannot be used until age 6. But that's something we will ask the doctors about. We will also be looking into Transitions lenses and/or prescription sunglasses for Audrena because the sun's rays have been shown to speed up the progression of RP.
It might also be possible for us to meet with a doctor at Boys Town who works with Usher Syndrome. We should hear something about that in the coming days as well. A friend gave me two e-mail contacts: a person with Usher's and the parents of a child with Usher's. I searched for Usher Syndrome blogs, and I did e-mail a person who has Type 2. Our SD School for the Deaf Outreach Consultant provided me with two contacts as well. When we were getting familiar with cochlear implants, it helped to talk to people who had them, or whose children had them. This is the same situation for us. It is helping to connect with others who are affected by Usher Syndrome. And we will continue to hope and pray for a cure.
October 25, 2012
Back to Boys Town for more appointments.
I haven't posted much about everything that's been happening lately. We've been busy!
Audrena has been walking like crazy, which we love to see. She has even graduated to carrying toys, one in each arm, as she walks. Our physical therapist texted Randy on Monday to say that they had a good session, and he had even noticed Audrena trying to mimic his words at times. Speech therapy has been really good, and yesterday's session was awesome. Audrena has taken an interest in "Brown Bear, Brown Bear, What Do You See?" She gave good approximations for many of the animals in the books, and also for teacher. Wonderful! Two nights ago, she was thirsty and pointed at her sippy cup, saying, "MORE!" It was very loud and very clear. She has been saying "more" for a good while now, but this was very forceful, almost like, "Pay attention to me!"
Last week, I took Audrena to Sioux Falls for our genetics consultation at Sanford Children's Hospital. We elected to do the Otoscope testing. It's a pretty comprehensive test through the University of Iowa, and although the time frame for results is 6 months or more, it tests for some of the specific conditions that we want Audrena tested for. They also did an EKG, a urine sample, and a thyroid test, all to test for things that could potentially be related to her hearing loss. So now we wait.
We have had problems with Audrena's scar on the left side getting little sores. We attributed it to her hearing aid rubbing and irritating internal stitches that maybe had not yet dissolved. We would clean it and apply Bactroban ointment, and they would heal. Well, the situation is finally catching up with us. She has an infection, complete with pus. Audrena has an ophthalmology appointment at Boys Town tomorrow to test for Usher's Syndrome, and to have another look at the strabismus in her left eye. I have a feeling the doctor will prescribe glasses to correct it. Anyway, we also had an appointment with Dr. L. to have the packing materials removed from her ears (as part of the fat grafts on her ear drums) and also a programming appointment. I had received a call a few weeks ago that Dr. L. would not be available, and they would need to reschedule. In order for us not to make two trips, I requested that we see Dr. K. instead, so they scheduled us to see him. A few days ago, I e-mailed Dr. L.'s nurse to ask a question about the packing material removal, and I mentioned the incision area problems. She replied back that Dr. L. would be making a special time slot for Audrena, as he wants to see her himself. Given that we have this infection going on, I'm so glad that he is making time for her! Just another reason we love Dr. L.!
Audrena has been walking like crazy, which we love to see. She has even graduated to carrying toys, one in each arm, as she walks. Our physical therapist texted Randy on Monday to say that they had a good session, and he had even noticed Audrena trying to mimic his words at times. Speech therapy has been really good, and yesterday's session was awesome. Audrena has taken an interest in "Brown Bear, Brown Bear, What Do You See?" She gave good approximations for many of the animals in the books, and also for teacher. Wonderful! Two nights ago, she was thirsty and pointed at her sippy cup, saying, "MORE!" It was very loud and very clear. She has been saying "more" for a good while now, but this was very forceful, almost like, "Pay attention to me!"
Last week, I took Audrena to Sioux Falls for our genetics consultation at Sanford Children's Hospital. We elected to do the Otoscope testing. It's a pretty comprehensive test through the University of Iowa, and although the time frame for results is 6 months or more, it tests for some of the specific conditions that we want Audrena tested for. They also did an EKG, a urine sample, and a thyroid test, all to test for things that could potentially be related to her hearing loss. So now we wait.
We have had problems with Audrena's scar on the left side getting little sores. We attributed it to her hearing aid rubbing and irritating internal stitches that maybe had not yet dissolved. We would clean it and apply Bactroban ointment, and they would heal. Well, the situation is finally catching up with us. She has an infection, complete with pus. Audrena has an ophthalmology appointment at Boys Town tomorrow to test for Usher's Syndrome, and to have another look at the strabismus in her left eye. I have a feeling the doctor will prescribe glasses to correct it. Anyway, we also had an appointment with Dr. L. to have the packing materials removed from her ears (as part of the fat grafts on her ear drums) and also a programming appointment. I had received a call a few weeks ago that Dr. L. would not be available, and they would need to reschedule. In order for us not to make two trips, I requested that we see Dr. K. instead, so they scheduled us to see him. A few days ago, I e-mailed Dr. L.'s nurse to ask a question about the packing material removal, and I mentioned the incision area problems. She replied back that Dr. L. would be making a special time slot for Audrena, as he wants to see her himself. Given that we have this infection going on, I'm so glad that he is making time for her! Just another reason we love Dr. L.!
April 30, 2012
Beginning to Digest Everything
It has been a few days since our second opinion. We have cried, talked, cried some more, talked to family, and cried again.
Saturday morning at our local deli/bakery, Randy ran into a man with a cochlear implant. He approached the man, P., and asked if he could talk to him about his cochlear implant. They had a nice conversation, discussed the experience, the risks, and his results. This man had normal hearing and lost it suddenly overnight. The cochlear implant restored 90-95% of his hearing. He and his friends basically said, "How could you not give her a chance to hear?" Then they asked to put Audrena on their prayer list. ABSOLUTELY! Keep 'em coming!
We keep coming back to that question, "How could we not give her a chance to hear?" We have come to the conclusion that even some hearing would be a benefit. If Dr. L. was still comfortable doing the surgery, then things can't be that bad. Then the meningitis risk can't be that high. We vaccinate on time. Ok, so we do still need to know, and I did call his nurse this morning to ask about it, as well as to make sure Audrena's auditory nerve was really normal as the neurologist said. She was out today, so I will probably have an answer tomorrow.
Over the past few months, we have considered Total Communication (sign language as well as hearing, speaking, and lip reading), and we've decided that we will prefer to use Auditory Verbal or Auditory Oral Communication. The parent of an adult deaf man said to me, "Face it. It's a hearing world." She would have gotten an implant for her son, had they been available at the time. I know that there is a wonderful Deaf culture out there. Deaf people are very successful in life and have great careers. But I also know that I want to give my daughter the chance to hear. I want her to marvel at those chirping birds. Randy wants her to hear him say, "I love you." We want to hear her little voice. The studies I have read find that a small child (the younger the better) who receives cochlear implants and Auditory Verbal or Auditory Oral rehabilitation will do so much better with the implants. With the proper therapies, it's possible to have the child mainstreamed in Kindergarten, and really maybe even before. 30,000 words per day. I think I can. I think I can. I think I can.
I called our Birth to 3 coordinator today to tell her about Dr. L.'s recommendation for physical therapy. Audrena had not previously qualified because she showed fine in that area of the evaluation, although she's not yet walking. So Audrena will now receive physical therapy and speech therapy. The coordinator had also arranged for an outreach worker with the South Dakota School for the Deaf to be involved in Audrena's care. Wonderful! I had planned to contact them, but now I don't need to.
I received a call today from the genetics team. They meet once a month, and they only take 3 patients each time. It could take us 6 months or longer to see them. That should give me plenty of time to get insurance on board with the testing. I'm more worried about getting insurance to approve both implant surgeries. They've been good so far, so let's just keep praying. Time is of the essence for these surgeries.
As for Audrena's abnormal vestibular system, I really wonder if I have the same defect. I have kind of bad balance, especially at night. If I can't see, I have to steady myself with a wall, or else I fall all over the place. My mom's balance was not good, either. So maybe it is genetic. And maybe it's not going to be as bad as Dr. L. warned us it could be. I rode a bike. I walked a balance beam in gym class. Audrena seems pretty steady after her ear tube surgery. Maybe she's already compensating well. I think with some physical therapy, she'll do great. I bet she will ride a bike.
I'm a little afraid that the counselors on the cochlear implant team will think I'm really too unstable to take this on. They will want to discuss reasonable expectations for the results of the implantation. Reasonable expectations. I'm well aware that my expectations are probably completely unreasonable. I want as much therapy as possible for Audrena. WE are dedicated to getting her caught up to her peers in speech/vocabulary before Kindergarten. We want her to be mainstreamed. I envision her playing sports and participating in extracurricular activities. I see her becoming something hugely important, like the first deaf woman president. Small but mighty.
Will I need to adjust my expectations? Maybe. Will I be completely devastated if she doesn't have a fantastic outcome with the cochlear implants? Probably. But then I will pick myself up and move on. If she has some learning disabilities in the process and is not mainstreamed as we hope, we'll do our best. If cochlear implants do not work well for her and she needs sign language, then we'll change our focus. Because she is our child, we will make sure she has everything she needs to pave her path to success, whatever that success entails. But as of right now, I see no reason to adjust my expectations. Randy and I are dedicated parents. Besides, Dr. C. has proven over the years that she is rarely wrong. Small but mighty. I see a bright future ahead.
Saturday morning at our local deli/bakery, Randy ran into a man with a cochlear implant. He approached the man, P., and asked if he could talk to him about his cochlear implant. They had a nice conversation, discussed the experience, the risks, and his results. This man had normal hearing and lost it suddenly overnight. The cochlear implant restored 90-95% of his hearing. He and his friends basically said, "How could you not give her a chance to hear?" Then they asked to put Audrena on their prayer list. ABSOLUTELY! Keep 'em coming!
We keep coming back to that question, "How could we not give her a chance to hear?" We have come to the conclusion that even some hearing would be a benefit. If Dr. L. was still comfortable doing the surgery, then things can't be that bad. Then the meningitis risk can't be that high. We vaccinate on time. Ok, so we do still need to know, and I did call his nurse this morning to ask about it, as well as to make sure Audrena's auditory nerve was really normal as the neurologist said. She was out today, so I will probably have an answer tomorrow.
Over the past few months, we have considered Total Communication (sign language as well as hearing, speaking, and lip reading), and we've decided that we will prefer to use Auditory Verbal or Auditory Oral Communication. The parent of an adult deaf man said to me, "Face it. It's a hearing world." She would have gotten an implant for her son, had they been available at the time. I know that there is a wonderful Deaf culture out there. Deaf people are very successful in life and have great careers. But I also know that I want to give my daughter the chance to hear. I want her to marvel at those chirping birds. Randy wants her to hear him say, "I love you." We want to hear her little voice. The studies I have read find that a small child (the younger the better) who receives cochlear implants and Auditory Verbal or Auditory Oral rehabilitation will do so much better with the implants. With the proper therapies, it's possible to have the child mainstreamed in Kindergarten, and really maybe even before. 30,000 words per day. I think I can. I think I can. I think I can.
I called our Birth to 3 coordinator today to tell her about Dr. L.'s recommendation for physical therapy. Audrena had not previously qualified because she showed fine in that area of the evaluation, although she's not yet walking. So Audrena will now receive physical therapy and speech therapy. The coordinator had also arranged for an outreach worker with the South Dakota School for the Deaf to be involved in Audrena's care. Wonderful! I had planned to contact them, but now I don't need to.
I received a call today from the genetics team. They meet once a month, and they only take 3 patients each time. It could take us 6 months or longer to see them. That should give me plenty of time to get insurance on board with the testing. I'm more worried about getting insurance to approve both implant surgeries. They've been good so far, so let's just keep praying. Time is of the essence for these surgeries.
As for Audrena's abnormal vestibular system, I really wonder if I have the same defect. I have kind of bad balance, especially at night. If I can't see, I have to steady myself with a wall, or else I fall all over the place. My mom's balance was not good, either. So maybe it is genetic. And maybe it's not going to be as bad as Dr. L. warned us it could be. I rode a bike. I walked a balance beam in gym class. Audrena seems pretty steady after her ear tube surgery. Maybe she's already compensating well. I think with some physical therapy, she'll do great. I bet she will ride a bike.
I'm a little afraid that the counselors on the cochlear implant team will think I'm really too unstable to take this on. They will want to discuss reasonable expectations for the results of the implantation. Reasonable expectations. I'm well aware that my expectations are probably completely unreasonable. I want as much therapy as possible for Audrena. WE are dedicated to getting her caught up to her peers in speech/vocabulary before Kindergarten. We want her to be mainstreamed. I envision her playing sports and participating in extracurricular activities. I see her becoming something hugely important, like the first deaf woman president. Small but mighty.
Will I need to adjust my expectations? Maybe. Will I be completely devastated if she doesn't have a fantastic outcome with the cochlear implants? Probably. But then I will pick myself up and move on. If she has some learning disabilities in the process and is not mainstreamed as we hope, we'll do our best. If cochlear implants do not work well for her and she needs sign language, then we'll change our focus. Because she is our child, we will make sure she has everything she needs to pave her path to success, whatever that success entails. But as of right now, I see no reason to adjust my expectations. Randy and I are dedicated parents. Besides, Dr. C. has proven over the years that she is rarely wrong. Small but mighty. I see a bright future ahead.
The Second Opinion
Last Thursday evening, we dropped Reyana and Kelton off at Grandma and Grandpa's house and traveled to Omaha with Audrena. We had booked a hotel room at the Sheraton since we would need to be at Boys Town by 5:30 am on Friday. The Sheraton offered a Boys Town patient discount, and it has been newly remodeled. Let's just say we highly recommend it. The room was clean and comfortable, with very nice furnishings, and it was affordable with the discount.
We arrived at Boys Town right at 5:30 and were checked in immediately. They took us to our room, where we put Audrena into a little pair of hospital pajamas and grippy socks. Then we went to the toy room to pass the time until they were ready for her.
At a little after 7:00, the anesthesiologist and nurse came to take Audrena. Another staff member brought us some breakfast. We waited for the ABR to be finished, not really expecting the results to be any different from the first ABR, even though Audrena would be under anesthesia for this one.
After awhile, Dr. L. came in to tell us that the ABR showed no response. That means they maxed out their equipment at 120 decibels, and Audrena couldn't hear any of it. She has profound hearing loss. In simple terms, she is deaf. I handled that news fine. I had prepared myself for it. Then Dr. L. explained that they would be taking her for an MRI next to check for the presence of an auditory nerve. Immediately we felt like he had yanked the rug out from under us. What?!? How could it be possible not to have an auditory nerve? I had never read that in any of my research. I vaguely remember asking what option we might have if she did not have an auditory nerve. He explained that there are limited options. They are just starting to do things like brainstem implants, and the only doctor doing them is in Italy. My world started to spin at that point. I wanted to throw up. I'm a planner. I have to know what is going to happen next. In this case, I was not prepared.
Dr. L. left the room, and I cried. Randy and I hugged each other and tried to convince ourselves it would be ok. After all, my cousin's daughter is deaf, and she is graduating high school, having lettered in sports, etc. She does wonderful. We know other people who cannot hear, and they do great in life. But they are not our baby girl.
Shortly after I finally got myself composed, the Audiologist came in to speak with us. She brought a hearing aid with her so we could see what Audrena might have. They typically do 3 months of hearing aid trials before cochlear implants for a few reasons. It gets the child used to something being on her head, and it stimulates the auditory nerve to some extent while the pre-op and insurance approval process takes place. I remember asking her what the chances were that Audrena would not have an auditory nerve. She said she didn't have any statistics, but she knew it was very rare. I cried again. Then she offered to forward the records to the Birth to 3 program and to Dr. M. at USD. She knows her from college days and had good things to say about her, suggesting that it really would save us a lot of time to work with Dr. M. on things that USD was equipped for. I signed some release forms, and off she went.
At some point the Audiologist came back with a cochlear implant packet. It had brochures and paperwork for us to fill out. We hesitatingly took that to mean that the MRI had shown an auditory nerve.
The nurses brought Audrena back to us, took her IV out, and told us we could take her to the toy room while we waited for Dr. L. I snuggled my girl and hoped for the best.
Dr. L. came in and said the neurologist said the auditory nerve was normal. He was not convinced it looked quite as it should, but it could have been a difference in computer screen contrast. He would have to call the neurologist and consult with him some more about it. They had also done the CT scan, which explained why things took a little longer.
Then he explained that Audrena has a larger-than-normal cochlear opening, which will cause a "gusher" in surgery. As he drills through the mastoid, spinal fluid will gush. He will need to pack it with tissue to seal it up. This is something he is used to handling, and he can take care of it. However, it will raise Audrena's risk for catching bacterial meningitis throughout her lifetime. As Randy got completely hung up on the word "gusher," I had it together enough to ask how vaccination affects that risk. Dr. L. said it does bring the risk down some, and he explained that as she is now, she's already at a higher risk due to that malformation. We were both trying to take it all in and neglected to ask for statistics or percentages so that we could assess what we're facing.
Dr. L. said Audrena also has smaller-than-normal mastoids, but again, he said he is used to dealing with that. All of this combined, though, means that he will not do a bilateral implant surgery. Audrena will have to have two separate surgeries, about 6 or so weeks apart. He wants to do the first one and assess how well she does with the implant before proceeding with the second surgery.
He did say that we could expedite hearing aid trials since we know they will not help. Our biggest delay, he said, will be getting insurance approval. He would get us scheduled to meet with the cochlear implant team in the meantime.
He told us that Audrena has a "very abnormal vestibular system," which means that her balance is bad. He said her vision will compensate for that, allowing her to walk, but she will need a night light or a flash light in the dark where she cannot see. Again, I had the rug pulled out from under me, and the only thing I could think to ask was, "Will she be able to do normal kid things like riding a bike?" He didn't know if she would be able to do those balance-dependent activities like bike riding. Randy had the presence of mind to ask if physical therapy would help, and Dr. L. did recommend it.
Dr. L. also referred us for genetic testing since we now know that Audrena's ear conditions are congenital, meaning she was born with them.
We left Boys Town feeling completely defeated. What if the neurologist was wrong, and her auditory nerve was not normal? How much benefit would she receive from cochlear implants? How huge of a risk would she be for meningitis compared to now? We were not prepared for two surgeries. And what about her vestibular system? How bad will it be for her? I was just sick, and the entire way home, I just wanted to throw up. Why couldn't have the MRI just been normal?
We arrived at Boys Town right at 5:30 and were checked in immediately. They took us to our room, where we put Audrena into a little pair of hospital pajamas and grippy socks. Then we went to the toy room to pass the time until they were ready for her.
At a little after 7:00, the anesthesiologist and nurse came to take Audrena. Another staff member brought us some breakfast. We waited for the ABR to be finished, not really expecting the results to be any different from the first ABR, even though Audrena would be under anesthesia for this one.
After awhile, Dr. L. came in to tell us that the ABR showed no response. That means they maxed out their equipment at 120 decibels, and Audrena couldn't hear any of it. She has profound hearing loss. In simple terms, she is deaf. I handled that news fine. I had prepared myself for it. Then Dr. L. explained that they would be taking her for an MRI next to check for the presence of an auditory nerve. Immediately we felt like he had yanked the rug out from under us. What?!? How could it be possible not to have an auditory nerve? I had never read that in any of my research. I vaguely remember asking what option we might have if she did not have an auditory nerve. He explained that there are limited options. They are just starting to do things like brainstem implants, and the only doctor doing them is in Italy. My world started to spin at that point. I wanted to throw up. I'm a planner. I have to know what is going to happen next. In this case, I was not prepared.
Dr. L. left the room, and I cried. Randy and I hugged each other and tried to convince ourselves it would be ok. After all, my cousin's daughter is deaf, and she is graduating high school, having lettered in sports, etc. She does wonderful. We know other people who cannot hear, and they do great in life. But they are not our baby girl.
Shortly after I finally got myself composed, the Audiologist came in to speak with us. She brought a hearing aid with her so we could see what Audrena might have. They typically do 3 months of hearing aid trials before cochlear implants for a few reasons. It gets the child used to something being on her head, and it stimulates the auditory nerve to some extent while the pre-op and insurance approval process takes place. I remember asking her what the chances were that Audrena would not have an auditory nerve. She said she didn't have any statistics, but she knew it was very rare. I cried again. Then she offered to forward the records to the Birth to 3 program and to Dr. M. at USD. She knows her from college days and had good things to say about her, suggesting that it really would save us a lot of time to work with Dr. M. on things that USD was equipped for. I signed some release forms, and off she went.
At some point the Audiologist came back with a cochlear implant packet. It had brochures and paperwork for us to fill out. We hesitatingly took that to mean that the MRI had shown an auditory nerve.
The nurses brought Audrena back to us, took her IV out, and told us we could take her to the toy room while we waited for Dr. L. I snuggled my girl and hoped for the best.
Dr. L. came in and said the neurologist said the auditory nerve was normal. He was not convinced it looked quite as it should, but it could have been a difference in computer screen contrast. He would have to call the neurologist and consult with him some more about it. They had also done the CT scan, which explained why things took a little longer.
Then he explained that Audrena has a larger-than-normal cochlear opening, which will cause a "gusher" in surgery. As he drills through the mastoid, spinal fluid will gush. He will need to pack it with tissue to seal it up. This is something he is used to handling, and he can take care of it. However, it will raise Audrena's risk for catching bacterial meningitis throughout her lifetime. As Randy got completely hung up on the word "gusher," I had it together enough to ask how vaccination affects that risk. Dr. L. said it does bring the risk down some, and he explained that as she is now, she's already at a higher risk due to that malformation. We were both trying to take it all in and neglected to ask for statistics or percentages so that we could assess what we're facing.
Dr. L. said Audrena also has smaller-than-normal mastoids, but again, he said he is used to dealing with that. All of this combined, though, means that he will not do a bilateral implant surgery. Audrena will have to have two separate surgeries, about 6 or so weeks apart. He wants to do the first one and assess how well she does with the implant before proceeding with the second surgery.
He did say that we could expedite hearing aid trials since we know they will not help. Our biggest delay, he said, will be getting insurance approval. He would get us scheduled to meet with the cochlear implant team in the meantime.
He told us that Audrena has a "very abnormal vestibular system," which means that her balance is bad. He said her vision will compensate for that, allowing her to walk, but she will need a night light or a flash light in the dark where she cannot see. Again, I had the rug pulled out from under me, and the only thing I could think to ask was, "Will she be able to do normal kid things like riding a bike?" He didn't know if she would be able to do those balance-dependent activities like bike riding. Randy had the presence of mind to ask if physical therapy would help, and Dr. L. did recommend it.
Dr. L. also referred us for genetic testing since we now know that Audrena's ear conditions are congenital, meaning she was born with them.
We left Boys Town feeling completely defeated. What if the neurologist was wrong, and her auditory nerve was not normal? How much benefit would she receive from cochlear implants? How huge of a risk would she be for meningitis compared to now? We were not prepared for two surgeries. And what about her vestibular system? How bad will it be for her? I was just sick, and the entire way home, I just wanted to throw up. Why couldn't have the MRI just been normal?
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