June 17, 2016

Happy Tears in the Hair Gel Aisle

You just never know what a day will bring. Last night Randy was sick, so while he rested I took Kelton to get a hair cut. I decided it was time for both of us to have something shorter for summer, and he wanted a mohawk. So after two really wrong hair cuts (his ended up being a spiked up high & tight rather than a mohawk...not sure how that happened...and mine was just plain bad), I took him to the store to get some gel and some pain reliever for Randy.

I ended up on the phone with Randy as I was in the hair gel aisle. He told me that Dr. D., our geneticist/ophthalmologist from University of Iowa had just called him. To hear from University of Iowa between appointments is not terribly out of the ordinary. She has been working so hard to find the genetic mutation that caused Audrena's hearing loss for a long time, and often we will get a phone call asking if our family has a history of this or that. What WAS out of the ordinary is that it was Dr. D. herself that called this time, not her assistant, and at 7:00 in the evening. Randy said, "She found the gene. She was so excited that she just couldn't wait to tell us." It felt like a little jolt of electricity hit me. Dr. D. has been hunting for "the gene" for so long, and we finally had an answer. It is definitely Waardenburg Syndrome. Relief. And then came the tears. Poor Kelton was so worried and just couldn't understand why his Mommy was crying in the hair gel aisle, of all places.

 I had to explain that these were happy tears. Everything was ok. If you have read previous blog posts or followed our story, you'll know that we had a huge mixup with our first round of genetic testing, and a local doctor misinformed us that Audrena had Usher Syndrome. Randy and I spent 2 1/2 months grieving, thinking our daughter would eventually go blind. I had even mentally started preparing a visual bucket list for her. Thankfully, we were able to meet with Dr. D. and then with Dr. S., whose lab had done the testing and whose signature appeared on the testing report. Dr. S. informed us that the local doctor must have misinterpreted the lab report. What we learned is that Audrena is a carrier for Usher Syndrome. However, Dr. D. still wanted to completely rule out Usher Syndrome once and for all, so she has been working hard to genetically prove the cause of Audrena's hearing loss, and in case she could not find the gene she has also been working Audrena up to cooperating for an ERG, the test that detects Retinitis Pigmentosa, which is what causes people with Usher Syndrome to lose their vision.

Dr. D.'s persistence paid off! She had already clinically diagnosed Audrena with Waardenburg Syndrome based on traits carried throughout one branch of my family tree, but she wanted the genetics to prove it. Our first round of testing for Waardenburg Syndrome did not find anything. She kept digging, and she found not a genetic change but instead a deletion that confirmed her suspicion. Relief. Pure relief. All along, Randy had more faith than me and trusted the clinical diagnosis much more than I did. However, I have always had a nagging little voice in the back of my mind that I couldn't let go of due to that first mixup. I have always worried that maybe somehow Audrena did have Usher Syndrome, even though clinically she did not fit, and genetically the testing showed she was just a carrier. Now I can rest. Now that little voice is silenced. Now Randy and I can move on and put the memory of that grief behind us.

Even though we have a diagnosis of Waardenburg Syndrome, we know that it just is what it is (hearing loss, two different colored eyes, very blue eyes, missing semicircular canals in the vestibular system). There are not any other associated issues like vision loss. We do know that there is a 50/50 chance that she will pass it on to any of her children, but Dr. D. talked a little about procedures they can do to help prevent that. It's just another bridge to cross in the future. For now, relief. And happy tears in the hair gel aisle


P.S. For those with Usher Syndrome, we hear that there is remarkable promise for treatment of Retinitis Pigmentosa through gene therapy and other genetic procedures. Dr. D. says they are almost there.

April 7, 2016

Our Home Away From Home

We have a special place in our hearts for the University of South Dakota Scottish Rite Speech & Hearing Clinic. Audrena and Kelton both utilize the clinic, and the professionals and student clinicians there are always fantastic. This week, Audrena had the opportunity to give back to the clinic in the form of helping with some marketing. You see, the clinic is a little-known gem here in town. We lived here for about 8 years before we ever heard of the clinic, and we found it by accident. You'll just have to take my word for it when I say this clinic and the professionals in it are top notch. It's a shame they don't have a beautiful, new building to reflect the quality of services they provide, but that's a topic for another day (*hint hint* to those who plan major building projects for USD).

I feel like I should provide a disclaimer of some sort after all that praise. We get nothing from USD but the same quality service they provide to every other client. This is simply our family sharing our appreciation for great service. We would be driving over 2 hours to receive programming services at Boys Town if it were not for this awesome clinic and our even more awesome Audiologist, pictured below.


April 6, 2016

"I'm five, going on six."

It's hard to believe it has been a whole year since I updated this blog! Sorry. I have been slacking. Actually, it has been a very busy year in our lives. Audrena spent the last year growing by miles rather than inches, it seems.

Last year Audrena spent her summer going to Disney World and Universal Studios, swimming in the ocean (SO thankful for Advanced Bionics Neptune processors), collecting seashells, going to speech camp, camping with the family, and playing with her neighbor friends. She still often asks to fly in the airplane to see Mickey Mouse and swim in the ocean again!

"I'm five, going on six." Those were the words we heard a lot on her birthday this year. Let's not get ahead of ourselves, Audrena! You're growing up too fast as it is!

Audrena played soccer last fall, and she will play again this spring. Her coach was great and was not at all intimidated by the Phonak Roger Inspiro that we asked her to use on the soccer field. We're always amazed by how much the Roger system improves Audrena's ability to hear us in situations like that!

She is still going to school for a full day, and it has worked out very well. In fact, Audrena participated in kindergarten round-up this week with flying colors! The areas they marked for us to work on before next fall were in the areas of gross motor skills relating to balance, and we knew those things would be a struggle for her due to her vestibular system. Rhyming words were marked as well, and that's something that we are currently working on. The preschool teachers, Audrena's EA, and the school's SLP have done a great job of preparing her for "big-kid" school! SD School for the Deaf (SDSD) recently completed evaluations, and we will all have an IEP meeting soon to determine whether we will send Audrena to kindergarten, or whether she will spend a year in junior kindergarten.

We know Audrena is behind in some areas, but we are still amazed at the progress she has made in the past year. Because she still has room to grow, so to speak, I sometimes have trouble seeing the future, where Audrena will speak as well as Reyana and Kelton, but I know we will get there with more time and hard work. Her articulation has improved over the past year, and she does a much better job answering questions and re-telling stories now. She still leaves out the in-between words in sentences, and now they are starting to work on auditory memory skills with her because the professionals at SDSD think that may be part of the issue.

We still take Audrena to the University of South Dakota Scottish Rite Speech & Hearing Clinic for Audiology and Speech-Language Pathology services. It has become like a second home to us, and we are so thankful to have the clinic so close to home. In fact, Audrena will be attending summer speech camp there for the third year in a row. Here is a photo that their photographer took yesterday and e-mailed to us. Our much-loved Dr. M. is with Audrena, and the student clinician is doing the programming.


That's all I have time to update with right now, but I will certainly try to be better about updating the blog! Life just gets so busy.

March 10, 2015

Happy 4th Birthday, Audrena!

Today is Audrena's 4th birthday. It never ceases to amaze me how far we have come in the past 3 years. On Audrena's 1st birthday, we still did not know for certain that she was profoundly deaf. We were really just beginning her hearing journey. In the past 3 years, she has endured several surgeries, countless hours of programming appointments, Aural Habilitation (speech/listening therapy) appointments, physical therapy, doctor visits, and most recently full day preschool. As parents, we have supported her through all of the same plus 19 1/2 hours of IEP meetings. (Yes, I am keeping track. Is there a medal at the end?)

And while we have come this far, there are still so many more years of this marathon ahead of us. Audrena has made leaps and bounds of progress this school year, but her articulation is still bad. It's pretty difficult for new people to understand her, so we continue to work on it. For example, she is now much better with the beginning and ending sounds that she used to leave off, and we finally have a /k/! The /g/ is still not there. We can see that she knows it is supposed to made in the back, and that it is different than the /d/. She just has not figured it out yet. But the progress is not fast enough for me some days. I will fully admit that it's hard for me because I wish the hearing loss was the only obstacle. Plus, Reyana and Kelton talked so early and so clearly that it's just what I am used to. I know we'll get there, though, because we have some really dedicated people on Audrena's team.

Aside from articulation, there has been progress with language, but there are still areas we need to work on like retelling stories, answering questions, including articles like "a" and "the," and not mixing up works like "I want marshmallow pink," instead of "I want the pink marshmallow." Again, we will get there. It's a marathon, not a sprint, right?

If I remind myself of the broad picture, the miracles are crystal clear. We went from not knowing that Audrena was deaf at her 1st birthday to having a pretty normal 4 year old who can communicate, even if it's not yet perfect. Her teachers tell us what we already knew...that Audrena is a smart little girl that will go places. Ok, I am boasting. We love all of our kids, and they are ALL going places in life. But she IS a smart little girl. She is an adorable, happy, healthy, spunky, stubborn little redhead. Some days that headstrong little girl makes me crazy, but at the end of the day I wouldn't have it any other way. I wouldn't trade our baby, or the hearing loss, for anything in the world. This journey has been hard and has tested us time and again, but it has been fantastic in ways we never could have imagined. We have learned so much about ourselves, our children, and our family as a whole. It has brought us closer and showed us to appreciate the small things.

We have big dreams for Audrena. Wouldn't it be fantastic if she grew up to become a cochlear implant surgeon? Or the first woman president? No matter what she chooses to do in life, we are confident that she will do it with that unmatched red-headed determination and with that trademark one-sided double dimple of a smile to win everyone over. Look out world! Here she comes!

And about this birthday? This year she partied with Chuck E. Cheese and told me which color flower she wanted to eat off of her birthday cake (the birthday child chooses the first piece). This birthday she can actually sing Happy Birthday to herself with a better sense of tune than I have! This birthday we gave her a bike because we know that, even with an imperfect vestibular system, she will learn to ride in order to keep up with Reyana and Kelton because that's the way she rolls.

Happy 4th Birthday, Audrena! You are a truly amazing gift from God.

Grandma and Grandpa gave Audrena this dress for her birthday. She told me she was wearing her pink and orange dress (check out the pink and orange balloons on it) and that she can twirl in it. :)

January 30, 2015

Waardenburg Syndrome?

From the beginning of our journey, I started reading about the genetic causes of hearing loss. I read about the characteristics of Waardenburg Syndrome, and I started to ask questions. We were always told no, that Audrena would have unique facial features if that were the case.

Since the Usher Syndrome mix-up, we have been seeing a really great ophthalmologist at University of Iowa Hospitals & Clinics. We see this doctor periodically to keep up with Audrena's eyeglass prescription and also because she works in genetics as well. She has been working hard to determine what caused the unique characteristics that Audrena has: heterochromia (her eyes are 2 different shades of blue), hearing loss, inner ear/vestibular structure abnormalities, etc. Over the summer, she asked if we had ever heard of Waardenburg Syndrome. Randy explained that yes, we had always questioned it because heterochromia and a lighter forelock runs on my (Carri's) side of the family. She explained that because I have the lighter color forelock and because of Audrena's characteristics, she would like to send a sample to be tested for Waardenburg Syndrome. Type II does not have the distinct facial features, and only roughly 20% of people with Type II have hearing loss. However, she said it does often come with vestibular structure changes. Of course, we agreed to the testing.

The test results showed one variation on each of two different Waardenburg Syndrome genes. However, those variations were ruled "not likely." Because the testing is relatively new in the world of genetics, the doctor asked us to do further testing. She will now be comparing samples from me and other members of my family who have the traits to try to prove her theory that we have a mild variation of Waardenburg Syndrome. If we do, the good news is that it does not change anything for Audrena. It is not progressive, and nothing else will develop. It is what it is. For the rest of us, it could be very informative, especially as the younger generation starts to think about having children.

However, if she does not prove anything with the testing, then we still do not have an answer. I trust this doctor, though, and I think she may be correct. I guess time will tell, but given what we went through thinking that Audrena might have Usher Syndrome I will take Waardenburg Syndrome, or even the unknown. In the meantime, we will continue to see this doctor for Audrena's glasses. It's a long drive, but it is worth it for the quality of care!

School Update

Today is the 100th day of school. I can't believe how fast those 100 days went! Reyana loves her teacher and is really enjoying 2nd grade. Kelton has matured so much in Kindergarten, and his teacher is fantastic. It has been a great year for everyone, especially Audrena.

We have seen a huge growth with Audrena this year. It seems we ("we" meaning her IEP team as well) have found a good combination of services this year with full day school, her SLP-A, and her speech therapy. I know we have a long way to go to get her caught up, but I also can't believe the amount of progress she has made this year. She is asking more questions, and more importantly, she is answering questions and taking turns in conversation so much better. Her vocabulary has expanded, and she is talking so much more. The average length of utterances has also gone from 3-4 to more like 4-6, and occasionally even 7 words.

Audrena has developed quite the personality this year. She keeps us all laughing, and she is the typical bossy little sister to Reyana and Kelton. Even when we are in our van on the interstate, she hears what Reyana and Kelton are doing behind her and tattles on them every chance she gets. Kelton was taking pictures with my iPhone one day as we drove down the interstate, and she made sure to tell us when she heard the camera click! Like every other child out there right now, she loves all things Frozen, and she tries to sing along with the songs even when she doesn't know all the words.

In school, they have been working on typical preschool things like letters, numbers, shapes, and colors. She can identify almost half of the letters randomly, she writes her name, and she knows her shapes and colors. I lost track of how far she can count, but I think she gets to around 15 before she starts missing numbers.

I still worry that she will not be caught up by Kindergarten, but I can safely say that I feel much better about where we are than I did over the summer. I can finally see the pace starting to pick up. We will continue to keep the ball rolling and even speed it up.

Recently in the sound booth, Audrena tested from 5-25 dB. There was one frequency where she was at 5 dB, and one where she was at 25 dB. Overall, she was hovering consistently in the 15 dB area. We are so impressed with her programming! Audrena has started to tell us when her batteries are low, or when she needs more toupee tape on her Naida processors. She asks for her "water ears" at bath time (the Neptune processors). And she has become a good little lip reader. We use very little sign language at this point, and yet if she is in bed and doesn't have her processors on, she still often answers our questions appropriately.

The miracle of cochlear implants never ceases to amaze us! Even with its limitations, the technology has provided Audrena with so much more in life than we ever dreamed possible when we started this journey. We knew that some access to sound would be better than none at all, but the results have far exceeded our expectations!

August 22, 2014

First Day of Preschool 2014

Audrena started preschool today. Her IEP team has a big year planned for her, and hopefully it will bring great things. Audrena will attend the "regular" preschool in the morning, then speech, lunch, recess, and Early Childhood preschool in the afternoon. She has a wonderful SLP-A (Speech-Language Pathologist's Assistant) who will be with her during the school day this year. We are so excited for all of the language learning and wonderful progress that she should make this school year! We are very thankful for a good school district with dedicated professionals as well.

This morning we arrived at school, took the obligatory "first day" picture in front of the school's sign, and barged into the SLP's office. Audrena loves her, and that's the first place she wants to go when she gets to school, whether she should be going to speech or not. So the SLP walked with us to take big brother Kelton to his kindergarten classroom and then on to the preschool room. Audrena saw her Early Childhood teacher and thought she should go right into that classroom. We had to explain that she has a new classroom in the morning. Once we were in the door, she found the ramp and a toy car, gave me a dismissive wave and a quick, "Bye bye!" That was it. She wouldn't even turn toward me for a quick picture. The SLP-A offered to take a picture later and send it to me, but I had what I really needed...a happy girl on her first day of school.


July 25, 2014

Our Summer Vacation

This year we were able to attend the summer parent workshop at The Moog Center for Deaf Education. What an amazing place! We learned so much, and we totally recommend attending if you have a deaf or hard-of-hearing child! Totally. I will warn you, though, by the time the workshop is over you will want to pack your belongings and move to St. Louis. They are that good.

While we were there, they did some evaluations on Audrena. The results were not quite what we had hoped to see, but we are thankful that we were able to bring the report back and make some positive changes on Audrena's IEP that should help her make good progress. We have a good school district to work with, and we still hope to meet the goal of having Audrena caught up by kindergarten.

In order to make the stars align for us to be able to attend the workshop, we needed someone to care for Reyana and Kelton. Thank God for family. My sister was able to go with us to St. Louis so that we could make a vacation out of it. She cared for the big kids while we attended the workshop from 9:00-3:00 each day. They swam in the pool and relaxed in the hotel suite. In our free time, we were able to go to the St. Louis Zoo, The Magic House Children's Museum, and The Gateway Arch. It was a great family vacation, and I can't thank my sister enough for making it possible! Here are just a few photos I have readily available on my phone.


People have always told us that Audrena would be the first deaf woman president. Maybe they were right....


My sister stayed at the bottom with Audrena while we took Reyana and Kelton up inside of The Gateway Arch. Here we are waiting for the "car" to pick us up.

We were assigned to "car" 3 on the way up.



Siblings of Children with Hearing Loss

Here is a good article about how to best support the siblings of children with hearing loss. It's something we struggle with in our household. We always feel like Reyana and Kelton give up a lot for Audrena, so we make a conscious effort to do things that involve only them. It's hard. They don't always understand that the therapists are there to help Audrena learn to talk because it looks like play to them. The physical therapy time looks like a fun obstacle course, and they want to participate. Well, Reyana understands a little more because she is the oldest, so she does things like reading bedtime stories to Audrena, knowing on a 7-year-old level that she is helping her little sister. But there are plenty of times when it's just plain unfair that so much of our attention goes to Audrena. It's a balancing act.

February 21, 2014

South Dakota Senate Bill 122

We have been busy lately. Work, children, Girl Scout cookie sales, and politics have been consuming our time. Yes, politics. I've been busy mailing letters and e-mailing our legislators. Wednesday morning I got up at 4:00 am and drove the 4 hours to Pierre to testify in front of the Senate Health and Human Services Committee. Then I drove the 4 hours back home. So what was worth 8 hours on the road for such a short time? Children. Particularly children with hearing loss. You see, Senate Bill 122 is an act to require insurance companies to cover audiology services, hearing equipment, and associated therapy for children with hearing loss in South Dakota. What is more worthwhile than giving children a chance to hear and speak to the best of their ability, regardless of whether or not their parents have the financial means to purchase hearing aids and speech therapy? We are fighting. And we are not finished yet. There is more work ahead. But with the support of our fellow South Dakotans we may just succeed. I am asking all South Dakota readers to please contact their legislators (click the link to find yours) and ask for a YES vote on SB122. Pass the message on to your friends. Act quickly because the bill will be heard Monday morning again. Let's give South Dakota's deaf and hard-of-hearing children the chance to speak because our children are the future voice of South Dakota.

P.S. If you listen to the audio on the website, you might just hear me testify. Just know that I was not at my best. I was trying very hard to hold back the tears, so I needed to take deep breaths, and I cut my speech short to give the many other parents behind me a chance to speak as well. We had a great turnout of supporters!

~ Carri