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.

More Research to Support Earlier Implantation

http://journals.lww.com/thehearingjournal/Fulltext/2012/10000/Journal_Club___FDA_Indications_for_Pediatric.9.aspx

FDA Indications for Pediatric Cochlear Implantation Fail to Reflect Current Research
By René H. Gifford, PhD

"Advances in diagnostic audiology and the creation of early hearing detection and intervention programs in all states and territories have lowered the average age of hearing loss identification to 2-3 months, down from 2½-3 years in the early 1990s. The US Food and Drug Administration’s labeled indications for pediatric cochlear implantation, however, have remained unchanged since 2000 despite this significant improvement.
The FDA recommends 12 months as the minimum age for cochlear implantation. This does not mean that infants under 12 months will not benefit from cochlear implantation, but obtaining behavioral hearing estimates for the youngest infants was difficult. This concern may not be as valid today given the audiologic checks and balances at our disposal for behavioral assessments of hearing and physiologic estimates of auditory function. This may also support the argument for lowering the FDA-approved age for cochlear implantation from 12 months to slightly younger, perhaps 6 to 9 months.

Many developmental changes occur in the first year of life that may be missed in an infant with severe to profound hearing loss. This is true even for infants with appropriately fitted hearing aids because audibility is often insufficient to allow consistent auditory access to spoken language, at least for those with bilateral severe to profound sensorineural hearing loss.
 
Word segmentation — the process of dividing connected discourse into meaningful units such as individual words — has been to shown to develop rapidly between 7½ and 10½ months. (Science 1997;277[5334]:1984.) Infants have the capacity for long-term storage of new words by 8 months, which is an important precursor to auditory-based language learning. (Science 1997;277[5334]:1984; J Exp Psychol Hum Percept Perform 2003;29[6]:1143.) An infant with severe to profound sensorineural hearing loss who has limited aided audibility may be missing out developing these critical auditory-based, language-learning opportunities.

Cochlear Implantation in the Very Young Child: Issues Unique to the Under-1 Population
Cosetti M, Roland JT Jr.
Trends Amplif
2010;14[1]:46

Cosetti and Roland summarized the literature regarding the surgical and anesthetic risks associated with surgery in infants, noting a higher incidence of morbidity, mortality, and life-threatening adverse surgical events for infants younger than 12 months. They explained that the majority of reported concerns and complications were confounded by emergency surgery, for which young and possibly medically fragile patients were unable to fast and thus had a greater risk of aspiration. The authors noted that a number of studies demonstrate no greater anesthetic risk for infants younger than 12 months during cochlear implant surgery.
 
Surgical issues unique to infants younger than 12 months include intraoperative blood loss, facial nerve anatomy, skull thickness (<1 mm), fixation of the receiver or stimulator package, thin scalp flap, and device migration with skull growth. It was reported, however, that these known variables can be moderated with a highly trained surgical team with extensive pediatric experience.

Word Learning in Deaf Children with Cochlear Implants: Effects of Early Auditory Experience
Houston DM, Stewart J, et al
Dev Sci
2012;15:[3]448

A growing body of literature demonstrates higher levels of word and language acquisition, speech perception, speech intelligibility, and vocabulary development for infants implanted under 12 months, even when compared with children implanted at age 2 years. (Dev Sci 2012;15[3]:448; Otol Neurotol 2010;31[8]:1254.) The authors examined whether age at implantation affects a child’s word learning and vocabulary development, looking at novel word learning in 25 prelingually deaf children who had been implanted under 24 months (age range 21.7-40.1 months) and 23 children with normal hearing (age range 10.3-20.1 months). The children were evaluated on speech perception, expressive vocabulary, and novel word learning.
 
Children implanted between 6 and 13 months exhibited significantly better word learning abilities than children implanted between 15 and 20 months. This is interesting because children implanted between 15 and 20 months would generally not be considered as having received “late” implantation. Word learning ability significantly correlated with expressive vocabulary at two years postactivation. Children who spent more time looking at the correct item on the computer monitor corresponding with the auditory stimulus exhibited significantly higher levels of expressive vocabulary.
 
Children implanted between 6 and 13 months not only exhibited higher word learning abilities, but also did not differ significantly from their normal hearing peers. The children implanted later at 15 to 20 months, on the other hand, exhibited significantly worse word learning abilities than their normal hearing peers.

These data were consistent with previous studies also showing significantly greater language outcomes for children implanted in their first year of life. (Volta Review 2003;103:303; Int J Pediatr Otorhinolaryngol 2011:75[4]:504; Ear Hear 2007;28[2 Suppl]:11S.) The authors suggested that early implantation results in better language outcomes, which is likely related to early auditory experience. (Restor Neurol Neurosci 2010;28[2]:157.) They hypothesized that providing earlier auditory experience to the developing brain affords development of cognitive mechanisms that are known precursors to language learning, such as audiovisual integration. Clearly more research is needed to test these hypotheses. It would have significant clinical, familial, societal, educational, and financial implications if research determined that children implanted under 13 months demonstrate age appropriate language outcomes by just 2 years postactivation.

Given the known benefits of cochlear implantation for children with severe to profound sensorineural hearing loss, a thorough revision of FDA-labeled indications for pediatric implant candidacy is well overdue. It is likely that criteria in the near future will include children as young as 9 months, perhaps even younger. A child under 12 months who is healthy enough and adequately prepared to undergo surgery has no major risks for cochlear implantation. The potential benefits associated with early implantation and recommended early intervention may be the key to closing the gap permanently between children with cochlear implants and their normal hearing peers for speech, language, and academic outcomes.

(Dr. Gifford is the director of the cochlear implant program and an associate director of pediatric audiology at the Vanderbilt Bill Wilkerson Center and an assistant professor at Vanderbilt University, all in Nashville. Her NIH-funded research focuses on electric and acoustic hearing, speech perception, spatial hearing with cochlear implants, and preimplant prediction of postoperative outcomes.)"

*Here is my official disclaimer. I am linking back to the original article so as not to infringe on any copyrights. This article appeared on The Hearing Journal's website.*

Cochlear Implant HELP

I checked out one of my favorite blogs today and found a new post with a link to the website http://cochlearimplanthelp.com/. It's full of great information!

Just a Little Research

I have a few interesting research items to share. I hope I'm within copyright laws by sharing these, but I have linked directly to the websites where they came from, so I think I'm good. Both deal with research coming from the University of Wisconsin, Madison, WI, an important cochlear implant research location.

This is just a snippet of the full article, but it does highlight the reasons we have chosen bilateral cochlear implants and why it is important for Audrena to get her implants ASAP. Earlier is better, especially before age 2.

Deaf children: Study shows significant language progress after two cochlear implants

“It’s a huge success to see these children making such strides in language acquisition,” says Christi Hess, a Ph.D. student in communicative disorders. “Many, after as little as one or two years with the implant, have language scores within the normal range, especially those who got the implant before age two.”

Thousands of children get cochlear implants each year, and the surgery is done at an ever-younger age, says Ruth Litovsky, professor of communicative disorders and surgery/otolaryngology.

It’s known that implants made at a younger age deliver results more quickly, and that a second implant helps children both locate the source of a sound and understand speech in a noisy room. But until now, it was not clear if the second implant would improve understanding of spoken language.

“The most exciting finding is that having two implants does correlate with an improvement in receptive language,” says Hess.

“Many of these children go through an ‘Aha!’ moment, a revelation, when the inputs they are trying to process suddenly start to make sense,” says Hess. “They have not had a framework for organizing these stimuli, but at some point, their brains start to make new connections and they begin to understand the auditory world.”

There are several reasons why two implants could be better, says Litovsky, who is director of the binaural hearing and speech lab at the Waisman Center and has studied cochlear implants for 12 years.

“As good as cochlear implants are, they provide input that is degraded, and the input to each ear is imperfect. The hypothesis is that with two implants, the children receive ‘two looks’ at a signal. The success of surgery in the two ears can vary, so the electrical impulses reaching the brain from each ear are not identical, and getting a signal to both ears gives another opportunity to sample and understand the auditory world," Litovsky says.

The children, who ranged from 4 to 9 years of age at the time of testing, had had at least one year of experience with the first implant and got the second implant by age 6.

There are several reasons to study language acquisition in children with “electric hearing,” Litovsky says. “This helps us understand the incredibly complex process of converting pressure waves in the air into sound and then into meaningful information, but this kind of research also helps parents make momentous decision about implants for their children who are deaf.”

The surgery is often covered by health insurance, but parents must decide whether and when to implant and whether to do both ears. Understanding the possible benefit of a second implant becomes a critical component of the decision process.

Again, this article highlights the benefit of bilateral implants. Studies continue to show that children with two implants, and who have enough therapy and language exposure, do very nearly as well in life as their normal hearing peers.

Helping To Hear: Cochlear Implants x 2

Little Isabella Rosa is a bright, happy 6 -year-old girl and she's also almost completely deaf. Her dad couldn't believe it when tests showed his little girl would never hear.

"We were in denial, we thought that there was something with the test, how can they tell? She’s just a little baby,” Vasile Rosa, Isabella's father, told Ivanhoe.

But Isabella can hear now with the help of not one, but two cochlear implants. A new study from hearing scientists, found that implanting one implant in each ear increases the benefit.

“We see that they’re better able to understand speech in quiet and also in the presence of noise, and we see a general ease of listening,” Ruth Litovsky, Ph.D, a Hearing Scientist at the University of Wisconsin-Madison explained.

Researchers found that two implants can help restore a child’s ability to identify which direction a sound is coming from, a skill that helps deaf children acquire language and improve their quality of life.

“Being able to simply listen without having to constantly look at what you’re listening for, improves your ease of listening in a way that is very important for everyday environmental functioning,” Dr. Litovsky said.

Scientists played a moving human voice through speakers placed at different points around a child. Then, they asked the child which direction the voice was coming from. Most children could tell where the voice was coming from until the voice was directly in front of them.

“You’re giving somebody two opportunities to be able to hear well,” Dr. Litovsky said.

Testing showed that most children performed almost as well as children with normal hearing. Isabella can look forward to a life with sounds all around.

“Those cochlear implants will help her and she shouldn’t be any different than any other child,” Rosa said.

What a difference two implants can make.