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.