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.