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/

Little Lilly

Lilly is 19 months old with bilateral cochlear implants, or “magic ears” as I tell my young curious students. We couldn’t be happier that Lilly has finally entered the hearing world, although the road to get here was not an easy one.

Lilly failed both hearing screenings in the hospital when she was born, and we were told not to be concerned. However with years of experience with infants I knew this was no ”vernix.” We were able to see the audiology team at Children’s ENT two weeks later and were told before she was 3 weeks old that Lilly had a profound sensorineural hearing loss. At 7 weeks old, Lilly received hearing aids and so began the challenge of keeping those little suckers on her head and ear molds in her ears!

And then it all sped up; it seems like a blur now. AIDB (Alabama Institute for the Deaf and Blind) assigned us a case manager who did an initial screening which confirmed other delays. As a result, she assigned to us a physical therapist to go along with the speech therapist and, of course, the audiology team we have come to know and love at the HEAR Center. We saw a genetics specialist at UAB, a neurologist, an ophthalmologist and, of course, Dr. Woolley (a.k.a. the Guru, big dog, head cheese, our hero ...) Lilly even began supplemental therapy with the Bell Center to try to close the gap in her gross motor delays. CT, MRI, Muscle Biopsy – more bad news. We felt like we were drowning – sound familiar?!? It felt as if the not knowing why and not knowing what to do were the worst.

Causes were sought out; CMV was the culprit for a while so we went to a CMV clinic. Results were inconclusive; she had CMV, but not congenital CMV. After a muscle biopsy, it was determined that it was Mitochondrial Disease that caused abnormal white matter in the brain, low birth weight (4.15 lbs) and congenital hearing loss.

But then things got better, as they always do. Lilly continued to make progress with her motor skills, just at her own pace. Pilot caps kept the hearing aids on! She made it into the 10th percentile for weight on the growth chart! (woo-hoo!) And the decision for cochlear implants was made (a double-edged sword but finally a decision!)

Lilly’s first cochlear implant surgery was the day after her 1st birthday. Recovery was hard, but after the activation, we had the best Christmas of our lives! (see video below)

There was a battle for the insurance company to approve the second surgery, but thanks to Papa Jack, it was able to take place on a very lucky Friday the 13th. It’s been almost 2 months since that activation and her language development is astounding!

Lilly identifies animals and their sounds, practices the Ling 6, loves to read books (identifying even non "Learning to Listen" items), she crows like a rooster and growls like an Auburn tiger! She can say more please, bubbles, Mama, Daddy, Nana, Katie, Pop, doggie, eat, hot, hat, up, ball and something new every week! Oh, and Lilly LOVES to sing!

Our journey is not over, but we now have a stable vehicle to travel in! We are still waiting for more results of the biopsy that determined the abnormal mitochondria, and we will then visit a specialist in Atlanta. Although Lilly wears custom splints, she still prefers to “cruise” rather than walk. And the new tubes Dr. Woolley gave us will hopefully ward off any other ear infections.

Wow! All this happened in less than 2 years. It sounds crazy when I type it all out. The tears of sadness and heartache were definitely worth the tears of joy and amazement. I look forward to meeting you in the waiting rooms!

Written by Lisa, Lilly's mom

Chronicles of an Extreme ENT

Bama Ears recently had an opportunity to talk to a local ENT who’s been giving more than the gift of sound to his patients. This doctor with an ironic name, Dr. Audie Woolley, has recently co-founded The Alabama School for the Hearing, and is Medical Director of the Cochlear Implant Program at Children’s Hospital. He’s performed just over 280 cochlear implant surgeries and over 50 BAHA surgeries. He’s also written numerous manuscripts for scientific journals as well as various other publications.

But this doctor is also a professor in his field. He says he loves teaching the residents. He notes that giving them the tricks of his trade and sharing his experience will benefit these new doctors and allow them to help more patients than he himself will ever come in contact with. But what we found out is he’s sharing more than his wisdom inside the O.R. Though he wouldn’t admit to belting out a solo performance, he does admit that music is a big part of his life, and enjoys hearing it during his many hours spent each week in the operating room. Whether he’s providing a child with a surgically implanted hearing device, performing atresia surgery (no ear canals), or any other head/neck surgery such as tracheotomies, cyst and tumor excisions and a variety of other surgical procedures in the field of otology and otolaryngology, music is likely playing in the background.

He tells us that one of his sons, 20 year-old Alex who is a percussionist and keyboard player, is actually his favorite musician. Alex is in the process of transferring colleges so he can pursue his dream of entering the music business. But what do you think a Texas born doctor would listen to while he’s actually giving our deaf children the possibility to hear music? Here’s what he told Bama Ears:
“Depending on the case, I choose the music anything from mellow to rock. I love Dave Matthews, Ryan Adams, The Fray, Counting Crows, Sugarland, U2 and the old classics REM, Zeppelin, James Taylor, Jackson Brown, really too numerous to name.”

We just had to ask since he’s so musically driven, but we were disappointed to find out he does not hold any karaoke titles or line dancing championships (yet!). Though he’s not too interested in the line dancing, he does tell us that being a Texas native, he claims to have a mean two-step. If anyone has video evidence of this, Bama Ears will be glad to accept the footage!!

We also asked if he could name one Kelly Clarkson song. He could not, but he is quite familiar with Carrie Underwood’s music. Let’s not assume he’s an avid American Idol fan like many of us are, but he is a music fan. Though he’s heard the name Miley Cyrus, he could not give us her television alter ego of Hannah Montana. We did not deduct any points off for that! After all, he is a grown man and not a five year old little girl, though he does have a dancing and singing daughter Emme who is eight years old. You’ll read more about her and the rest of his family in a future post.

It’s quite apparent that his residents are benefiting from his wisdom, his music, and his humor as well. Practical jokes are quite common from this ENT. There are more stories to come about this Alabama surgeon in future articles. In our next chapter of Chronicles of an Extreme ENT, you’ll find out why we call him Extreme….

Chloe's Story

My name is Nicole. My niece Chloe is almost 18 months old and has bilateral Cochlear implants. She was diagnosed at 5 1/2 months old with severe-profound sensorineural hearing loss that was hereditary. Chloe initially failed her newborn hearing screening, but later passed it at her first well-child check-up. At almost 4 months old her parents, Paul (my brother) and Candace, became concerned about the possibility of hearing loss, when Chloe did not wake up to the sound of a skill saw, which was running in the next room. Later that week at her 4 month check-up, these concerns were expressed to her pediatrician and a hearing test was performed. Chloe did not pass the screening and was referred to Children's Hospital where her hearing was further evaluated, again with the same results. On April 19, 2008, Chloe had tubes placed and ABR testing which revealed "at least severe hearing loss." About a month later, Chloe received her hearing aids, and again the news was not good. She had a delayed reaction to extremely loud sounds, which meant being aided by hearing aids alone would not allow her enough access to sounds to develop speech. She was diagnosed with a profound hearing loss.

Chloe at 8 months of age, we had to get creative and keep her busy hands away from those hearing aids

With the diagnosis of profound hearing loss, our journey to cochlear implants began. Chloe was evaluated by the HEAR Center and she was soon a candidate for bilateral implants. Her surgery date was set for November 14, however in mid-October we received the news that her insurance company had denied payment for her second implant. Their reason: bilateral implants are not "medically necessary." That answer was not acceptable. The surgery date was rescheduled for December 8 and then December 15 to allow time to resubmit the claim. Meetings were attended, calls were made, but we were getting no where as the claim was again denied. FINALLY on December 10, after a trip to Montgomery to plead Chloe's case, just 5 days before her surgery date, the claim was not only approved for Chloe, but for any other child needing bilateral implants with this insurance company. Coverage of bilateral cochlear implants would now be their policy.

December 15, 2008 (just after her first birthday) The big day FINALLY arrived. After 6 hours in the OR, we received the GREATEST news EVER....

Chloe's surgery was a success and responses had been detected from electrodes in each ear. CHLOE WOULD HEAR!!!
Chloe the following morning after her bilateral surgery

Chloe's Activation Videos

One Month Later...
I was completely amazed at her progress in just one short month. Chloe started babbling and repeating sounds. This child was completely silent just one month before these videos were shot.

Now, at almost 5 months post-activation, Chloe continues to learn new sounds every week. She goes to AVT (auditory verbal therapy) weekly and mapping sessions (audiology) about once every 3 weeks. Her vocabulary includes: more, mouth, mama, bye, hi, "g" sounds, and "y" sounds. She is imitating more and more sounds every day. Check my personal blog for more updates on Chloe's progress: http://www.kaylynandluke.blogspot.com/

Written by Aunt Nicole

Ariana's Story

Ariana is 11 years old and getting ready to go to middle school next fall. She will be in the 6th grade, and she wears bilateral cochlear implants. Ariana has one older brother and one younger brother. She is a very smart and happy child and enjoys swimming, baton, and art. Ariana had a neat opportunity to meet Marlee Matlin last year at one of the local elementary schools. It seems like just yesterday, though, that our healthy baby girl was just getting over her first cold when she was suddenly stricken with bacterial meningitis at 4 1/2 months old. Ariana is very lucky. She beat a lot of odds. She was in ICU for 12 days.

When she was 15 months old, I went into her room and she did not hear me call her name. My heart sank. I knew at that moment there was a hearing loss. We have no idea if it is from the meningitis itself or a result of the antibiotics that helped save her life. We later found out that she was deaf in her right ear and had a mild to severely sloping loss in her left ear. We chose not to give her a cochlear implant early on because she received great benefit from her hearing aids and was making great progress in her speech and language. Cochlear implants were not as popular in 1998 as they currently are. We were a little afraid back then.

Thanks to wonderful speech therapists, doctors, and an oral deaf preschool, she continued to make lots of progress. It wasn't until she was almost 8 years old and going into the 2nd grade that she hit that wall. She was only getting 35% of aided hearing and she came to us asking to please let her get a cochlear implant. A lot of people in the past thought she would not be a candidate due to ossification around her cochleas from the meningitis. She did have lots of ossification, but she was so blessed to have two successful surgeries. She had surgery on her better ear first, in August of 2005, and she received her second cochlear implant in November 2005 due to that ear was ossifying rapidly.

I cannot put into mere words how it has changed her life. If I could do it all over again, I would have gotten her this wonderful gift when she was first diagnosed with a hearing loss all those years ago. It has been a long journey, but such a rewarding one! My favorite quotes are "love is pulling together against all odds" and "never never never give up".

Written by Kia, mom to Ariana.
Keep up with Ariana at her blog:

http://rainfallsdwn.blogspot.com/

Sound Check Mama: It's Riley

Riley has bilateral cochlear implants – the first surgery was done in October 2003, the second in April 2007. She was diagnosed with severe to profound, bilateral sensorineural hearing loss at 18 months, which is a long way of saying she could hear virtually nothing because of damage to the cochlea in each ear. Genetic tests revealed the Connexin 26 gene mutation as the cause.

Today she is 7 and excelling in first grade, with a little help from her ADD meds and great teachers. She plays soccer and softball, and she's getting ready for her first dance recital. She loves to sing, jump on the trampoline, read, ride her Big Wheel and swim, and except for her brightly colored ear accessories, she's a normal little girl.

We're so thankful that Children's Hospital is there when we need it, and we're blessed that so many caring people have helped us on this journey to sound. You can read more about that journey at my blog Sound Check Mama.

Ready to hit and run
Riley rocks out to Guitar Hero
Her princess pose at dance class

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