Taking CHARGE

I don’t know why I didn’t read "Choices in Deafness " from cover to cover. Looking back on it, I probably should have read it at least twice. But when we began our journey with a profoundly deaf daughter, the initial decisions were fairly straightforward. Would we begin sign language or would we pursue hearing and speech through a cochlear implant? There were bumps in the road, but relative to all our other decisions, it was not a hard choice to shoot for the moon with a cochlear implant. My husband and I are optimistic people and I don’t like to apologize for that, but in the case of our daughter, Adele, things don’t always go as planned.

Adele made quite an entrance to the world just over 5 years ago. With no warnings or complications during pregnancy, everyone was surprised when she needed resuscitating at birth. She was whisked to the NICU and there were not many encouraging words for us first-time parents. There was literally no time for a single “congratulations” before the silence of worry and concern set in. Within a few days, Adele was diagnosed with CHARGE Syndrome, a complex genetic disorder that affects multiple areas of development. Over the next three months in the hospital, almost every specialist had something to add to her list of diagnoses, which included inability to swallow, heart abnormalities, and possible blindness; so the fact that Adele had failed several hearing tests just fell into the pile of bad news. It would be almost a year before she was medically stable enough to really consider our options for hearing.

Because she was in-patient at Children’s Hospital for several months, the Hearing and Speech audiologists were able to see her often. We also had time to learn more about CHARGE Syndrome and found out that 90% of patients have hearing loss and many are also vision impaired. In fact, CHARGE Syndrome is the leading contributor to the deaf-blind population. Thankfully, by the time Adele was 6 months old, she was showing signs of good vision and we knew she would not be blind. We were elated that she could see and continued to think positively and prayerfully about her hearing.

Adele was wearing a hearing aid at 9 months and multiple tests had confirmed that she was profoundly deaf. As her medical condition became more stable, we began making visits to the HEAR Center to discuss our options. As with all implant candidates, it was a team effort. Our speech therapist was focused and realistic, our surgeon was experienced and thorough, and we as parents listened and processed everything as best we could. It was decided that she was a good candidate, but due to inner-ear abnormalities and facial paralysis, there were a few extra steps necessary to determine which ear to implant. Dr. Audie Woolley referred us to the University of Michigan for a second opinion with his friend and colleague, Dr. Steve Telian, and also for a procedure to test the nerve viability on both sides (promontory stimulation). The results of that visit were positive to go forward on her right side, (opposite facial paralysis) and we allowed ourselves to get excited.

Adele’s surgery day did not go as expected, and midway through the procedure Dr. Woolley let us know she would probably not be able to get an implant. Though undetectable on all the previous imaging, Adele had a large blood vessel blocking the path to the cochlea, putting her at increased risk for complications. It was a huge disappointment, but, thankfully, it didn’t last long. A few weeks later, Dr. Woolley had a new plan to work around the vein. Working together with Dr. Telian, Dr. Woolley successfully implanted Adele’s right ear in December 2005; it was a very good day.

Adele’s activation day was not as dramatic as some, but we were delighted to begin Auditory-Verbal therapy. Adele made some progress, but after nine months of therapy she had not mastered the first-level benchmarks. Our concern was strong enough that along with our AVT (auditory verbal therapy) therapist's recommendation, we began looking at sign language options. Up to this point, our decisions about Adele’s hearing had not been that difficult. All of our hopes had been in the implantation and with hearing and speech. Choosing which type of sign language – Signing Exact English or ASL – was much more difficult.

We knew virtually nothing about either type of sign language and were very anxious. We immersed ourselves in reading materials, the Internet, and tried to find unbiased opinions. Even now, over 2 years later, I don’t know how anyone can make a decision between SEE and ASL when you have so little personal experience. Nonetheless, we officially chose SEE because of the emphasis on English word order and our long-term goals of strong reading and writing skills. However, ASL was also a part of our world because of our involvement with other special-needs children at The Bell Center and Hand in Hand, and also the wonderful PBS program “Signing Times.”

This was a period of quick acquisition of sign language and a first introduction to Deaf Culture. What a new world for us! Watching Gallaudet’s documentary Through Deaf Eyes made us excited for how accomplished people with hearing loss can be. But it also made us very sad because we were starting to realize that often people with multiple disabilities, such as CHARGE Syndrome, are not a part of Deaf Culture. Through other readings and discussions, we learned that sometimes this is by choice but oftentimes it is by exclusion, which made us extremely concerned for Adele’s future within the deaf community, SEE or ASL.

Balancing that sadness, however, was the delight that Adele was learning signs as quickly as we were. With CHARGE Syndrome, there is a possibility of cognitive impairment and since she was so young, we did not have any clear indicators of what her intellectual abilities were. Adele was proving to be very bright and as many people like to say “as quick as a whip.” It was reason to celebrate and one of several factors that led our therapist to remind us about another option for communication: Cued Speech. From "Choices in Deafness" and other sources, we learned that Cued Speech is a method for visually communicating English using the phonemes of the language, not symbols for the words like sign language. In simple terms, it is a combination of lip-reading and about 40 hand signals that match the consonants and vowel sounds of English. In addition to Adele’s cognitive strengths, several events led to our consideration of Cued Speech.

We realized that even though we were very devoted to learning sign language and were gaining vocabulary rapidly, we knew there was a strong possibility that Adele’s communication needs could outpace us. We did the math and the number of words we needed to learn per day was somewhat overwhelming. If it was overwhelming to us as parents, what could we expect from everyone else in our lives? Without a strong circle of signing friends, including our own adult friends and family, it would be difficult for us to learn sign language beyond a third-grade level (about 5,000 words) and it would never be our natural language (as it is for deaf parents of deaf children). It seemed more common than not, that at some point, parents were not able to say everything they wanted to say to their children because of vocabulary limitations. That was very concerning to us, especially since there was a chance that the signing deaf community would not embrace her special needs.

Of more immediate concern was that I was finding myself unprepared to talk to Adele about what she was interested in on a daily basis. On a trip to the zoo, I prepared thoroughly and thought I knew the sign for every animal she could possibly want to see: monkeys, lions, tigers, elephants, zebras, rhinos, parrots, giraffes, turtles, bears, seals, etc. But when she stopped to watch the flamingos and the ostriches, I did not know those signs and, even worse, could not find them in the sign language book we had in our bag. We had lost that teachable moment forever and there would be more to come.

From our initial feelings on sign language, we still had a strong appreciation for the literacy-building opportunities in Signing Exact English. Cued Speech offered even more advantages for learning to read and eventually write. The phonemic awareness from Cued Speech allows a child to learn to read the same way a hearing child can learn. Through the hand cues, they have a visual reference for the sounds in a word and can “sound it out” allowing them the same opportunities as a hearing child. If Adele is like most kids, we foresee a lot of emailing and texting in her future and we would like her writing to reflect strong language skills and not be limited just because she cannot hear.

As we learned about Cued Speech from the book and other writings and research, we were intrigued but not without concerns. We read as much as we could and found one invaluable resource in another parent of a child with CHARGE Syndrome. Their daughter was 30 years old, doing very well, and had begun using Cued Speech in preschool. We were impressed enough to give Cued Speech a try. However, our biggest concern was (and continues to be) how well Adele would be able to express language with Cued Speech. Because part of the visual system depends on the mouth shape of a phoneme, Adele’s facial palsy and oral motor weakness posed a problem. It was an unknown risk that we talked about but felt that even if her expressive language fell into the “worst case” scenario, there would be ways to overcome it. The pros seemed to outweigh the cons and we moved forward.

With help from our HEAR Center therapist and a DVD tutorial, my husband and I learned the hand shapes and placements for Cued Speech in just a few days. Within a short time, we could put it all together to say anything we wanted to Adele without having to look it up. Our speaking was very slow at first, but it was very liberating to be able to say anything without first consulting a book. It also didn’t take long to notice that because Cued Speech forces your focus to the mouth area, Adele was paying more attention to our voices and using the hearing that she does have from her cochlear implant. We know that she can hear some common routine words without cues and her lip-reading skills are also quite good. Given her challenges, these skills can only add to her competence long-term in the hearing world.

Thankfully, Adele’s preschool embraced our decisions and we have been supported by them as well as the HEAR Center. In the two years we have been cueing, Adele’s receptive language has flourished and she is still proving how quickly she can learn. Literacy continues to be a driving force and reading children’s books has been one of the best ways to advance her vocabulary and increase the speed of our cueing. To her delight, both Adele’s grandmothers have learned to cue, as have her aunt and several therapists. We have taken her to 2 summer camps for Cued Speech and met families from all over the country who cue. We have even met a few more families with children with CHARGE Syndrome who are cueing. Even though our Cued Speech network is small, it is growing!

It is worth noting that most Cued Speech advocates recommend that a child learn ASL at some point, and we agree. The social aspects can be very rewarding and we hope that will be the case for Adele. Even though we, her parents, will probably never be as fluent as we would like in ASL, she can learn in other settings when she is a little older.

Though most of our efforts are focused on Cued Speech, signing still has a place in our home. Adele uses the initial signs she learned as a base of expressive language, as well as cues and gestures. Her expressive language has not progressed as rapidly as her receptive and that gap has been widening rather than narrowing. This is not all bad news, though, because her receptive language is amazing; we just need to help her match it with expressive language. Once again, we began looking for another piece to our ever-growing communication puzzle.

We posed our situation to as many professionals as we could over a period of several months. It was challenging to find people who felt they had adequate experience with a child like to Adele to make a recommendation, but we did get feedback from New York, North Carolina, Maryland, Michigan, and, of course, from our home team in Birmingham. The evaluations were not formal, but the recommendations were unanimous for incorporating an additional approach: Augmentative Communication. At Cued Speech camp, one of the therapists recommended a book with an unusual title, Schuyler’s Monster. It is a father’s story about his voiceless (but hearing) daughter’s journey to communication. While I do not agree with a lot of the author’s feelings, their story related to ours in many ways. They were using an Augmentative Communication device and it seemed, more than not, that this could be a good option for us.

It took almost a year before we were convinced to try Augmentative Communication. We did not want to overwhelm Adele, ourselves, our family, our therapists, our school system, etc. But over the summer we have gone through the evaluation process (and insurance process for coverage) and with the help of Easter Seals we are thrilled to have received our own device this very week. It’s official name is “Vantage Lite” from Prentke Romich Company, but we affectionately call it “Adele’s Pink Talker.” If you are not familiar with this type of device, it uses symbol icons to offer many choices of language, up to 5,000 words, and it speaks them for the user. Another benefit of the device is that it spells the words and sentences on the screen, furthering her opportunities to build literacy.

Because Adele cannot necessarily discriminate the device’s voice output, we are cueing everything to her as she learns what words the icons represent. We hope it all comes together smoothly but know it will take time. In the few days she has had her “talker,” she is already surprising us with what she wants to say.

We are not sure what Adele’s communication will look like in the future, whether it will be Cued Speech, output from her “talker,” ASL, or quite possibly from her own mouth. In the five years that we have been working on her hearing and speech, we have also been working on her oral motor skills for eating, to the schedule of up to three therapy sessions a week. Over the summer, Adele has surprised us all again by learning to eat small meals by mouth and drink enough nutrition through a straw to skip a few of her tube feedings. It almost feels like a miracle, but we will save that for another story. In the meantime, we remain optimistic that Adele’s head is filling with language and that someday she will be able to tell us everything that is on her very special mind. Her little hearing sister Margo (two and a half) has no problems communicating with her big sister. She's even picked up a few cues as well by watching us.

Sometimes it's the challenges that teach us appreciation. What seems small to some, can be great accomplishments to many families with children who have special needs.







Written by Julie Brandrup, mom to Adele (CHARGE Syndrome) and Margo

Bama's Bright Light

Rachel from "Signing Time" with Julie and Adele

This month, Bama Ears is shining its bright light on Julie Brandrup, mom to Adele and Margo. This busy mom just returned from Chicago where the CHARGE conference was held this year. If she and daughter Adele look familiar, it may be because they have been in many magazines and on TV as well, featured in Blue Cross/Blue Shield advertisements. Before she had Adele, Julie actually worked in advertising and branding. She says that her experience in finding the positive angles of each product and enhancing them has really come in handy since she's become a mother to a special needs child.

Julie has a positive outlook on everything, right down to her own health. She's had two back surgeries since having Adele (one while pregnant with her now 2-1/2-year-old). She notes that despite all of that, she rediscovered her love for swimming, which became helpful for her postsurgery back. She was also forced to rely on some great baby-sitters since she couldn't even lift anything for six weeks after her surgeries. Those sitters also come in handy when she and her husband have their date night, which has always remained somewhere on their busy calendars. Julie and her husband Jay actually share more than this lovely family – they also share the same birthday (Julie is older by two hours). They can often be found at the annual "Rhinestones and Wranglers" charity event held by The Charity League of Birmingham, or other charity events for UCP and the Bell Center . Jay is actually on the Fundraising Campaign Committee for the Bell Center and a UCP board member. Julie says her husband and family have been unbelievably supportive through everything. She also says,

"I am also thankful to God, who undoubtedly provides the strength I need every day to rise to the challenges of having a child with special needs; without Him we would be a big mess."

We are proud to be shining Bama's Bright Light on Mrs. Julie Brandrup. Next week, read more about Adele's experiences and how she is learning to communicate and how her little sister Margo is also picking up language in a variety of forms as well! Julie helps many families each time she shares Adele's background, and we are pleased to bring you more in next week's article.

Under the Microscope

When you find out your child has hearing loss, often times you are offered genetic counseling/testing. Why would parents want to have their genes or their child's genes put under the microscope? Should we just accept that “it is what it is” or “it was just meant to be?” It is a very personal choice, and we wanted to give you our thoughts on why we chose genetic testing. There are several benefits of genetic counseling:

1. As children get older, they will have questions such as “Why me?” or “Why don’t my ears work?” or a number of other questions that you need to be able to answer.
2. Also, when children become adults and want a family of their own, is there any likelihood that they too will have deaf children? Or was their hearing loss an isolated case?

3. Having the counseling can also help you answer questions such as, "What is our risk to have another child with hearing loss?" "Should we have more children? Do we want to have more children?” Some people really struggle with these questions that can be an emotional concern as well as a financial and a major health concern.

4. Health! Up to 40 percent of children with hearing loss have other issues, which is almost half of the kids with hearing loss (according to www.raisingdeafkids.org/speical)! Sometimes children may have an underlying syndrome, and hearing loss is secondary to that syndrome. Many kids with syndromes may appear to be fine to the untrained eye, but with a full exam from a genetics specialist, it may be determined that the child has syndromic hearing loss. Finding this out ahead of time can really be beneficial. A child with a syndrome may need other testing to determine if there are other complications or concerns that need to be addressed. Sometimes as a child with a syndrome ages, other things develop that can cause concern that could possibly be addressed earlier. The child could develop cognitive delays, growth abnormalities or visual impairments, ADHD, or even more serious developments such as kidney or heart or spinal problems. Having these issues addressed in the beginning can help you decide which follow-up care or continuing care to pursue for your child. It helps you be on the lookout for certain issues to develop, and if they do, you’ll know whom to contact.

5. Relief. Genetic counselors can also test for nonsyndromic hearing loss. For example, a mutation in the connexin 26 gene (called GJB2) causes only hearing loss, so if your child has that gene mutation and nothing else, you’re pretty well assured that hearing loss is all you’re dealing with. Mutations in other genes can be associated with other medical problems.

We wanted to talk more with Dr. Nathaniel Robin, Professor of Genetics and Pediatrics at UAB, on the subject of genetics and here’s what he says...

"As you mentioned, there are many benefits to a visit to the geneticist. But because very few people even know what a geneticist is, they are often nervous about coming to see us. A visit to the geneticist is very similar to any other doctor visit in some ways, but very different in others. For example, we spend a lot of time getting background information on your child as well as your family. Then, when I examine your child I look for very subtle things, like facial characteristics. Are the ears and nose normal in appearance? Are there unusual birthmarks, or fingerprint patterns? This is mostly done just by looking and observing, very little poking. If there is no other unusual findings, we often recommend testing for isolated hearing loss genes. However, if there are other findings we discuss what they mean, and what testing if any should be carried out. Genetic testing typically involves nothing more invasive than a simple blood draw.
All in all, most people find these visits helpful, as many questions are answered, or at least addressed.
A visit can get very emotional, and parents will often become upset because we are discussing potential health risks for their child. We always follow up each visit with a comprehensive and detailed note, as well as additional reading material as appropriate. Another often unspoken concern is if a genetic evaluation and testing is covered by insurance. The answer is almost always yes, but if that is a concern we can check before your visit.
To make an appointment with UAB's Genetic Clinic call 205-934-9528."

So you can see, at least in our opinions, a visit to the genetics office can be quite beneficial. Talk to your audiologist or ENT about genetic testing if you are interested and they will surely point you in the right direction.

The Genes We Wear....

“What does it sound like to take a bath?” This is just one of many questions I’ve been asked since becoming a parent to deaf children. I had to frantically search my mental thesaurus to describe to my children how the water sounds to me but feels to them. By day, they wear cochlear implants, electronic devices where one part is surgically implanted under the skin near the ear. A second part, the external processor, is removable by the patient during activities such as swimming, bathing and sleeping. Once removed, my children are in a world of silence.

My son Gage, was born with Goldenhar Syndrome, explained by Dr. Nathaniel Robin, Professor of Genetics and Pediatrics at UAB. “This is a rare craniofacial disorder in which affected children have underdevelopment of the face and ears, with one side being more severely affected than the other. Hearing is often affected, and other birth defects are common. These include abnormalities of the eye, spine, heart and kidneys. While the physical appearance may be striking, the vast majority of people with Goldenhar have normal intelligence. This is why early identification and correction of any hearing deficit is so important.”


Among many other abnormalities noted at birth, he failed his newborn hearing screening ... he was profoundly deaf. Little did I know that his little sister Brooklyn, born two and a half years later, would follow his path to silence. Passing her newborn hearing screening and with no apparent syndrome, you can imagine my surprise when I found out she couldn’t hear well at nine months of age. Her brother had just received a cochlear implant, so shouldn’t I have seen the warning signs?


Unlike her profoundly deaf brother, she had some hearing, so if I raised my voice or moved in closer, she could hear me. Having one deaf child already, this was “our normal.” Her progressive hearing loss soon led her to qualify for cochlear implants also. Knowing that Gage had a syndrome, a reason for his deafness, we decided to have genetic testing on the whole family since she may question her hearing loss later in life or when she decided to have children of her own. No genetic links between the two were found as reason for their hearing loss.

As Dr. Robin further explains, “Over half of all hearing loss in children is caused by genetic factors. In most cases, these genetic anomalies cause no other abnormalities, and are therefore termed ‘isolated.’ In other cases there are associated problems, and the hearing loss is called ‘syndromic.’ But the genetic cause is not known for all syndromes. Goldenhar is one such example. While we believe it is low, we cannot with certainty state what the likelihood is that Gage or his siblings will have a hearing-impaired child.”


Ironically, it is possible for deaf children to become good listeners. According to Natalie Baldwin, an Auditory-Verbal Therapist/Speech-Language Pathologist at The Children’s HEAR Center, “It is my job to educate the family how to stimulate speech, language and auditory development in their child. Through weekly sessions, we target vocabulary, language, listening and speech tasks that will help the child develop just like their typically hearing peers.” Natalie warns that even a minimal hearing loss can impact a child’s speech and language development. If you have concerns regarding your child’s hearing, she suggests you ask your pediatrician for a referral to a pediatric audiologist.

It’s common practice at my house to narrate daily activities. In fact, this part of auditory-verbal therapy could benefit almost all children, with or without hearing loss, since its focus is language input. When it’s time to cook dinner, I let them help, exposing them to as much language as possible. Also, I may ask them retell the list of ingredients in a dish to Dad during a meal, giving them a chance to verbalize and improve their memory skills. So try to include the children in your daily activities, they might become better listeners!

Written by Val, mom to Gage and Brook

with special thanks to Dr. Robin and Natalie Baldwin for their contributions
http://www.deafkidscanhear.blogspot.com/

Cochlear Kids

Meet brother and sister team Gage and Brooklyn Blakely. Gage is now eight years old but was born deaf. He has Goldenhar Syndrome and wore hearing aids for over three years until he received his first cochlear implant. At age seven he became bilateral and will be in third grade this Fall at his mainstream public school. His sister Brook was born hearing but began her progressive hearing loss as an infant. She too wore hearing aids until she was almost three when she received her first cochlear implant and a year later became bilateral. She will be in Kindergarten this Fall at the same school her brother already attends. Both have limited support services at school. These two are very active and love being outside. Gage is all about trucks, he even makes and customizes his own toy vehicles. Although he's rarely caught sitting still having ADHD, he can sit for the longest if he just has some type of truck to work on or a big box of Legos. Brooklyn just wants to be a mom and takes very good care of her two favorite baby dolls. She can be found pushing them in grocery carts or in a baby stroller everywhere we go. She's even been spotted feeding them in a local restaurant as any good mother would do. Both used Auditory Verbal Therapy to learn to hear and speak. We are thankful to live in an area where we have access to great audiological and therapy services. We have always had a large support team to guide us through the difficult process from finding out our children were deaf to treatment for their hearing loss. We thank our doctors, therapists, family and friends for lending their much needed support over the last few years.

You can keep up with the Cochlear Kids at our family blog http://www.deafkidscanhear.blogspot.com/

Written by mom Val Blakely