My husband and I feel very lucky to feel that we are able to accomplish most anything when we set our minds to it. We decided to marry in 2002 and start our family of four kids soon after.  We did exactly that and we had our first child in 2004.  I left my career as a special education teacher when our first child was born and we were blessed enough to expect our second child in 2006.

The pregnancy was seemingly healthy and normal. The only concern was that he was beginning to be quite a big boy and since his grandfather was 13 pounds at birth, we kept a close watch on that.  Towards the last month, I noticed that baby Noah, a pretty laid back little guy, started to move less and less. We had a few non-stress tests in which he was less responsive than the doctor preferred to see, but there were no glaring concerns. However, the doctor decided the non-stress test coupled with the concern for Noah’s size was enough to decide to induce him a little early.

A Few Concerns Leads to Induction Day

Being induced was quite a bit different than when we had our first baby. Each night I remember going to bed in the last days of my first pregnancy asking myself “Is this it?  Is this the night we will have our baby?” but with Noah, there was no ambiguity. I knew that we would go to sleep Friday night, wake up Saturday morning and welcome our baby.  We went to the hospital well rested that early morning, and excitedly checked in. We preferred a more natural approach, so my doctor agreed to break my water in an attempt to jump-start labor. After four strong contractions, we thought we were on our way… until the contractions came to a stop. So from 9 am until 5 pm, our doctor allowed me to try to augment naturally until finally, she dropped the “P-bomb”.  Yep– Pitocin was needed to speed up my labor.

I didn’t really progress quickly with my first so I told my family and friends who were waiting to leave for dinner. After all, I was in labor for 36 plus hours with our first as she, just like Noah, preferred the occipital-posterior position, fondly known as sunny side up. I had to push for three and a half hours so this seemed totally logical to have everyone leave, right?  Wrong. Shortly after they all left, the nurse came in to check on me and asked how I was doing.  I announced to her that I was great but the baby must have moved and perhaps he was on a nerve because he was now putting pressure on my rumpus.   This is apparently the universal code for ABOUT READY TO DELIVER ANY MINUTE.

We called everyone back quickly and we were ready for business. The doctor sat down and I asked if I should push since I was contracting. She said I could and had one hand in “birth-ready” position and another setting up tools until she abruptly spun around and had both hands engaged in a catching position. I was still anticipating a more than three-hour delivery saga. All of a sudden I was pushing a second time and on my third push, she held up what looked to be a baby. My head was spinning. I asked aloud “was that the baby… the whole baby?  Did I just have the baby?”  WOW.  I was shocked – it happened in a blink of an eye- how marvelous!!!!  They handed the sweet little man to me and I was over the moon and then suddenly my whole life changed in one small, graceful movement of my hand as I gently cupped it around my newborn son’s delicate little head and made a heart-wrenching discovery… he was missing an external ear.

Time Stops on the Road to a Diagnosis

Contrary to the blur of frenzy with the quick delivery, the next five minutes were a blur in an entirely different way. They seemed to creep by with the most stifling slowness as I watched my husband and mother-in-law walk with the nurse to another part of the room with Noah, all examining him with questioning eyes. All I could hear in my mind was the echo of my last words ringing in the air, “He is missing an ear… I think he doesn’t have an ear.”  I heard the reassurance of the doctor saying “Oh it is fine. It is probably folded down from his birthing position; it happens all of the time.”  She meant well and believed it just as I wanted to. I couldn’t believe though because I knew that wasn’t true.  I felt it and watched it in my husband’s eyes as he just looked down on our little angel wondering, as I did,  “how could this happen?”

The next few hours were painful as we waited for information. Noah seemed to check out alright physically but no one could tell us anything so we waited.  A doctor finally came in at our persistent requests and ordered tests but didn’t indicate to us what these were for. We entered into the longest, most horrific night of our lives.

At 6 a.m., they came in and took our little innocent baby and did an x-ray, shortly after an ultrasound and finally an MRI. There is something so wrong about having to watch your newborn, not even a day old, in that machine undergoing diagnostic testing that many go a lifetime without.  Finally, our pediatrician came in to see him. He walked in like a brave knight rides in on his horse and told us the things we so dearly wanted to hear- ANSWERS.

The Unknown has a Name: Goldenhar Syndrome

Armed with literature, he shared that our son has a syndrome, Goldenhar Syndrome, and that it is a clinical diagnosis and has varying characteristics.  He described a facial asymmetry of Noah’s in an underdeveloped jaw bone and torticollis.  He has microtia, a missing external ear. He said that Noah appeared to have been spared other trademark characteristics such as spinal fusion, missing or malformed kidneys and growths on or abnormalities of the eye.  Hence the x-ray, ultrasound, and MRI.

I had held my angel all night and wondered… is this really happening?  We both feared the unknown but once we knew what we were up against we felt we could handle it — all of it. We were going to face it all and raise this amazing little boy. We didn’t know yet how all this impacted him, and some areas we learned about much later as he hit or missed developmental milestones.  We quickly learned that Noah was the important force, not any of his labels. He was our exceptional little boy.

I mentioned earlier that I was a special education teacher, with half of my credits towards an Early Childhood Special Education endorsement, all but one class in my Severe Affective Endorsement all on a Moderate Needs Special Education Masters that I hold… but none of that covers Deaf Education. So I have armed myself these last three years with all of the knowledge I can find to help guide Noah in his journey.  The greatest thing that has helped us was connecting with agencies such as CHIP and Foothills Gateway to receive support and services for Noah.  He has had physical therapy and speech therapy since he was three months old.  We have been so grateful to have these resources and connections to assist Noah and our family as we feel they have a critical role in his success to date.

By the time he was three, he was amazingly skilled in fine motor skills but was behind in gross motor skills. With his severe to profound hearing loss in his right ear (or “little ear”) and normal hearing in his left ear, he used a bone conduction hearing device on his hat, and he still loves it, most of the time.  We had believed he had a heart murmur but learned that it is really a VSD, which is a hole in his heart. We continue to monitor his vision and many other facets of his health and he will have to as he grows older. He decided in his late elementary years to ask us to look into reconstructive surgery for his little ear, and that was quite a journey. My husband and I feel fortunate to feel that we can accomplish anything if we set our minds to it. Noah has been through many surgeries and reconstructions in his lifetime. We are constantly grateful for the remarkable son. We don’t see him so much as the little boy with Goldenhar Syndrome but instead as a charming, adorable, tenacious, determined, funny, thoughtful and bright young man that we know will be even more amazing as he grows.

“Children are not things to be molded, but are people to be unfolded.”   ~Jess Lair

The Richter Family Story

Late Diagnosis and Early Intervention

By Jennifer Richter

My first pregnancy with my daughter Paige was fairly uneventful. I was measuring a bit smaller then the doctor would have liked so they started me on non-stress tests for about four weeks before she was born. She was born almost two weeks early and weighed in at 5 lbs. 9 oz. We are not very big people, so the doctor was not worried at all. Paige sat up at six months, crawled at seven months and walked at 11 months. She started talking at about ten months and never stopped!

When I got pregnant with my second daughter, I assumed this pregnancy would be “business as usual.” I again started measuring small, so I began the non-stress tests again. We had a precautionary ultrasound at 32 weeks to measure the baby, which I thought nothing of since I had a history of carrying small babies. This time the news was not what I expected. The doctor told us that she had mild ventricularmegaly, which is enlarged ventricles of the brain. They were not too worried at that point, as long as the ventricles did not get any bigger.

Of course I was a complete wreck, looking up anything I could about it on the internet, which was a huge mistake. In retrospect, I found that the internet usually gave the worst case scenarios.  At 35 weeks we repeated the ultrasound and the ventricles had gotten slightly bigger, so they suggested that I get induced at 37 weeks. Of course, I thought only of the worst case scenario (hydrocephalus, shunts, etc.), and did not know what to expect. When she was finally born on December 17 at just under five pounds, she scored 10s on her Apgar test and was deemed healthy. She was very small and jaundiced, but otherwise healthy. She had her newborn hearing screen while she was in the hospital, and passed! I remember saying to my mother “at least that’s one thing we don’t need to worry about!”  I guess I was wrong about that.

Due to her prenatal problems, she was monitored closely. We had an unsedated brain MRI at three weeks. I remember how proud and impressed I was that my baby stayed so still through the entire test! I now know it was because she did not hear the extremely loud noises the MRI machine makes. Thankfully, the MRI was normal and we thought our worries were over. However, at about six months of age, we noticed that she wasn’t turning to her name like her sister had. She didn’t startle to noise, but she was very tricky. She learned to respond to facial expressions and had great peripheral vision. When we clapped hands behind her back, she responded (because she saw us, probably). Of course she could hear! She would wake up when the shower went on (which was next to her bed), and when the door would slam. It is so easy to see now, looking back, that she was alerted by vibrations and her own good visual skills. She also had some gross motor delays. She was slow to sit up, roll over and crawl. At six months we enrolled her in the Montgomery County, Maryland Infant and Toddlers Early Intervention Program to receive physical therapy. Within a month of beginning therapy she sat up and started to make real progress. Her pediatrician,   concerned that she wasn’t babbling or making eye contact, referred us to a developmental pediatrician. That doctor referred us to speech therapy. which started immediately. She did not make any progress. No one even thought twice about rechecking hearing since she had passed her newborn screening.  I still felt that something was wrong, even though the experts assured me otherwise.  I believe that the hearing loss was missed because it was not a symptom related to her prenatal problems.  Enlarged ventricles do not cause hearing loss.  I believe the doctors were looking for something neurological to fit into the puzzle.

Will She Know Me?

Though she had undergone every test under the sun, I decided to request a behavioral hearing test when she was ten months old, since I was still convinced something was wrong. As the audiologist presented loud piercing sounds, my baby just played with the toys in front of her with no response. She did enjoy when the elephant lit up and the monkey clapped the symbols, but that was about it. The audiologists were concerned, but not overly concerned. Her tympanograms were flat in both ears, so they said that her non-responsiveness could likely be because of the fluid in her ears. I really wanted to believe that was the issue, but deep down I knew that it was not enough to cause no response. She was then scheduled to have ear tubes put in to drain the fluid, but the audiologist also wanted a sedated ABR to rule out hearing loss to be on the safe side. We scheduled the test for December 2005, when she turned one. Unfortunately she was sick on the day of the test, so they couldn’t sedate her, but they were able to get enough information from the unsedated test to suggest that Cameron could have a severe hearing loss. The audiologists provided me with information about hearing loss, hearing aids and cochlear implants. I don’t think I heard a word that they said. All I kept thinking was “Will she ever know me? Will she ever say mommy? Will she go to college?” I had never known anyone with a hearing loss and had no idea what a cochlear implant was. I didn’t think that a child who was deaf could listen and acquire spoken language. Once I started reading and researching our options, I knew that I wanted my daughter to learn to listen and speak if she could. So our journey focused on that destination.

Communication Modes and Implant Surgery

Cameron received her ear tubes  and two weeks later had a sedated ABR. At that point we just wanted a diagnosis so we could move forward. We had gone through every emotion possible, but it was so difficult not knowing for sure. Her final diagnosis was a profound bilateral sensorineural loss. The audiologist at Bethesda Naval, knowing in advance that a diagnosis of a profound hearing loss was very possible, had asked a mom with a child about a year older then Cameron to come to the hospital to meet us. Unfortunately she couldn’t make it, but her daughter who was implanted about a year prior left a message on his voicemail. She said the words “more, my turn, mommy” into his voicemail. I started crying and knew then that there was hope. I also started meeting with anyone I could to educate myself on the communication options. We first met with the ENT at Walter Reed Army Medical Center who scheduled us for surgery on Feb. 14, 2006. We were so thankful that the military did not have a required six month hearing aid trial…we knew that with her profound hearing loss that she would not be able to access speech sounds with a hearing aid and she had already lost so much time listening because of her late diagnosis.  She had met the minimum implant age at the time of her diagnosis so she immediately became an implant candidate.

The doctor was not the most encouraging person we ever met. He provided us with the risks, and said that he did not know if she would be successful given her other prenatal problems and developmental delays. I left his office angry and discouraged, but knew that the CI was her best chance to hear and acquire spoken language. We also met with a teacher of the deaf through the Infants and Toddlers program, an Auditory-Verbal Therapist at Chattering Children in McLean, VA and an audiologist at Bethesda Naval Hospital. The audiologist provided us with all of the communication options available and a list of all of the people who could educate us. She discussed the differences between auditory-oral communication, auditory-verbal communication, sign language, cued speech and total communication. These terms were completely foreign to me at the time. I didn’t know that there were so many communication options available. She also provided me with the names and numbers of parents who could provide us with their experiences with the different modes of communication.

The audiologist also provided us with information about The River School in Washington DC.  The River School has a unique inclusive education model. There are two deaf/hard of hearing students in each classroom and the rest of the students are typically developing. The school bases its curriculum around language and phonological awareness and the typical peers act as speech models for the deaf/hard of hearing students. In addition to structured therapy, we began attending play groups at The River School as well as through the deaf and hard of hearing program. The play groups were fun for Cameron, but they were so beneficial for me. I was able to speak with parents about their communication choices and was able to see firsthand how well their kids were doing. It really provided me with a sense of peace and the ability to know I was making the right decisions for my child. I knew I wasn’t alone.

Cameron received her first cochlear implant in early 2006 and was activated by the end of March. She did great!  By the next morning she was her usual self. We were shocked at the recovery time! Once she was implanted, we threw ourselves into every group and every therapy.  Through the Infants and Toddlers Program, Cameron was visited by a teacher of the deaf who used oral communication as well as sign language and attended a toddler group once a week where cued speech was used.  Cameron loved the cued speech.  She came home singing songs from the class and used cues (not properly, but enthusiastically) while she sang. This was the first time I was exposed to cued speech. I think it is a great way to bridge the gap of communication because it clarifies sounds that sound and look the same on the lips.  Cameron also saw an Auditory-Verbal Therapist at Chattering Children for 1 1/2 hours a week and attended The River School from the time she was 20 months until we moved to Colorado in 2008.  We wanted to educate ourselves about all the various communication modes, but we ultimately chose auditory-verbal therapy as our primary form of therapy.   We were so fortunate to live in a place where so many options were available.

Military move

My husband’s urology residency was finished in June, 2008. We knew that this would most likely mean a permanent change in duty station. We became members of the Exceptional Family Member Program (EFMP) when she was diagnosed. This program dictates that military families who have a member who has any exceptional medical needs must be stationed where services are easily accessible. The EFMP is the reason we were able to be stationed at Ft. Carson, Colorado. When we moved to Colorado, we thankfully already had a clear communication path. We looked for an auditory-verbal therapist, AVT) an audiologist and a mainstream preschool rich in language and phonological awareness. I received a referral from our audiologist at Bethesda Naval to an AVT in Denver. We were so fortunate that she was able to put us on her schedule. I don’t know what we would have done or what we would do now without her guidance and expertise. We were also referred to the Rocky Mountain Implant Center. of the pieces fell together, and we could look forward to the move to Colorado.

Going Bilateral

We started exploring the option of going bilateral in January, 2008. We started reading the literature and speaking with parents and professionals. Since Cameron relied solely on listening, we wanted her to have the best listening experience possible. This was not a decision we made lightly. We felt that the first implant was a necessity, but the second was, in our eyes, elective, since she already had acquired the ability to listen and speak.  We decided we wanted to give her every opportunity both academically and socially and felt that listening with two ears was better than one. We assumed that our bilateral journey would be as smooth as the journey with her first. We were definitely mistaken.  Tricare, the military insurance company, did not deem bilateral implants as medically necessary. We fought for six long months, facing three appeals and two cancelled surgery dates. Tricare finally changed their policy in August, 2009 and she received her bilateral surgery on October 21, 2009 by Dr. Kelsall at the Rocky Mountain Implant Center. We hope that our fight will pave the way for other potential military bilateral recipients. Now at three months post activation, her “new implant” is catching up to her first. She had to start from the beginning and relearn how to listen with her new implant, but the progress has been much faster than with the first since she already had the knowledge of sound and speech. Nothing quite prepared us for her not being able to identify her name when first activated, but her progress has been amazing. She now able to rely on both of her implants. We are very happy that we made this decision for her.

Moving Forward

Cameron now attends a private school with her sister. She knows that she hears through cochlear implants and enjoys seeing others with implants and hearing aids, but definitely thrives in a mainstream environment with her typical peers. I am still amazed how none of her pre-k peers treat her any differently. They asked questions about her implants in the beginning of the year, and Cameron confidently told them about it, but that was the extent of the introduction. Her sister has always helped us with her therapy (presenting LING sounds and playing listening games) and has always been an amazing role model and speech model for Cameron.  While her sister knows that she has some different needs, she has never treated her as “special” and does not expect that we will give her any preferential treatment.  I believe that her sister is the reason Cameron is the independent, successful person she is today.

Cameron is now at age level or above in her receptive and expressive language and continues to amaze us each and every day. She is independent, thoughtful and has a great sense of humor.  She still has some vestibular issues related to the hearing loss (she didn’t walk until she was 20 months old) but is gaining more and more balance. She participates in gymnastics classes and loves Physical Education (P.E.) in school.  Her favorite sport this year has been skiing! She has been going to ski school at Keystone and has been making great progress. She goes on the magic carpet and then loves to zip down the mountain without a care in the world.  There is nothing that she cannot do!  She has expressed interest in basketball, too. I never would have dreamed when she was diagnosed four years ago that this is where we would be today.  We are still unsure of when and how she lost her hearing and will most likely pursue genetic testing in the future.  The testing may or may not unlock the mystery of her hearing loss.

I thank God every day for the gift of technology and the amazing parents and professionals that we have met along the way. I can’t wait to see where this journey will take us next!