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.