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.

April 8, 2013

A New Team Member

Last Monday also marked the start of our new Speech-Language Pathologist. She has good experience, and we really like her! Audrena will see her twice weekly, at least until she turns three and transitions to the school district. We feel like she is a great addition to Audrena's team!

We have an IFSP review meeting coming up in a few weeks. I'll be interested to see what kinds of goals Audrena will have in the next 6 months. She had asked me if there were any specific goals that we think Audrena should have. I will be honest and say that it's not our strong point in developing her goals. So we'll work with the professionals and see what we come up with. Audrena really has a great team, and we are comfortable and confident with their knowledge.

We have a date!

 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.

On a happy note, we have a date for Audrena's left ear cochlear implant surgery! If all goes as planned, she will have two working "ears" before Memorial Day!

We went to see Dr. L. last week, and he removed the packing material from her ear. Everything looked good, and he said he was ready to schedule the implant surgery.

We talked a little bit with him about the Usher Syndrome diagnosis. It was kind of out of his area of expertise, but his advice was to do whatever we could to protect Audrena's eyes because with her vestibular dysfunction she would need vision to help with her balance. He said the University of Iowa was a great place to be going.

During the appointment, I could tell that Dr. L. was really observing Audrena. She did use a few words. His nurse gave Audrena a sticker with Minnie Mouse and 3 hair bows. She brought it to me, pointed at each bow, and counted 1, 2, 3. Then she peeled the sticker, stuck it on her shirt, and tried to give the paper backing to Randy. He said, "No. Go throw it in the garbage." Audrena walked to where she thought the garbage can should be, under the counter. Dr. L. was sitting there and said something like, "It's not over here." So she turned and went to the other side of the room, where she spotted the wall-mounted garbage can. She stretched as far as she could and pushed the paper into the can. There were no visual cues. She did it all using her receptive language and listening! Yay! Audrena also played with Dr. L. a bit, getting him to put her up and down in the exam chair. Toward the end of the appointment, Dr. L. looked at us and said, "She is a very smart kid." It meant a lot coming from someone who sees children all day long! Yes, we think she is smart, too. I can't wait to see what she can do as a bilateral implant recipient!

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.