2C or Not 2C? That was the question.

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!

Learning to Deal with Usher Syndrome

 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.

We have had our ups and downs in the past month. Usher Syndrome has been a big pill to swallow, and I think those ups and downs are going to just be our normal. The past week has been a little more difficult for me. I think it's because summer is coming. We are starting to talk about camping, swimming, and other sunny activities. Every time I look outside at the sun, I think about the potential damage to Audrena's eyes. Bright light speeds up the progression of Retinitis Pigmentosa.

Sunglasses will always be a standard part of Audrena's life. That's not such a big deal. It's just plain healthier for everyone to wear them. But right now she doesn't have any. The big debate has been whether to order prescription sunglasses or transitions lenses now, or to wait until we see the doctor at University of Iowa. In the meantime, whenever Audrena is playing outdoors I think of those precious eyes. So Randy called University of Iowa and talked to the nurse. He explained that our appointment is not until mid-June. Should we order sunglasses now, or should we wait until she sees the doctor in case she makes a change in the prescription? They did recommend that we wait. Our options are clip-on sunglasses for her regular glasses, or a sun hat with a brim. Although logically good solutions, neither of those seem like fantastic options for us. Wal-Mart told me they don't make clip-ons small enough. I need to check elsewhere to confirm that. And a hat? Well, with a child who will soon have bilateral CIs, I see a huge hassle in the making. It's hard enough to keep one on when she plays with necklaces and hats indoors. Two will be even more difficult. We're not really sure what to do at this point, but we know we want to protect Audrena's retinas as much as possible.

When I look at old photos of Audrena in the first few months, it seems like I am looking in at another person's life from the outside. We were so carefree. Sometimes ignorance is bliss. But regardless of the struggles we are facing now, I am thankful we know now about USH2C because we can be proactive. I am thankful for cochlear implants because they have made a phenomenal difference in Audrena's life, and her future might be very different without them. We don't know what USH2C has in store for her. Retinitis Pigmentosa might be very mild for her. Some people make it into their 40s without any vision loss. Most people don't. Realistically, they might make it to their mid-teens. There might be a cure by the time Audrena needs one. Or there might not be a cure. But what I do know is that at least she will be able to hear, and she will be able to speak.

A friend, Susan, sent me a message last night. She is a fellow CI parent and an amazing mentor. I shared some of my worries with her, and I hope she doesn't mind me sharing what she said. She wrote, "All you can do is take one year at a time. No use carrying that big bag of anxiety too far out." Her advice has always been really great, so when I read that message I decided that I would try my best to do exactly what she said. As for preschool, she said, "The school seems much scarier than it is. You'll figure it out. Just make sure you have good teachers and FM/soundfield. She'll do amazing!" Thanks, Susan! You are wonderful.

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.

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.