Diagnosis

Becoming a Champion

By Rose DuMont

Leaving home for college with a severe to profound hearing loss was difficult. I graduated high school with high honors and had a lot of friends despite receiving only minimal support from my behind-the-ear hearing aids.

The inadequacy of my devices, which provided only a “soft” introduction to sound, soon caught up to me when I began my undergraduate studies. I struggled to hear my professors, and I was overwhelmed by the amount of responsibility I was required to take on. Among my many classmates in large lecture halls, I felt invisible and became lazy about attending classes. I was unable to fully participate in conversations with others.

In the first semester, I developed an ear infection that caused my right eardrum to burst. This immediately caused vertigo, which I wrote off as a one-time, horrible experience. I was in my dorm, where I remained on the floor for an hour until the world stopped spinning. It felt as if the floor had been ripped out from under me and nothing would be right ever again. I didn't throw up that first time, but I have thrown up nearly every time since.

Over the next two years, I experienced vertigo with increasing frequency. Eventually I was having attacks every few days. Every vertigo episode seemed never ending. Once the spinning stopped, there was no relief; just a feeling of impending doom. My tinnitus―which already affected me throughout my life―became more pronounced than ever before. The incessant white noise sometimes makes me feel like I am trapped in a huge indoor stadium with thousands of people talking at once.  I consulted an ENT at Mass Eye and Ear who administered three sets of vestibular tests, two MRIs, and multiple hearing tests over an 18-month period. Finally, at age 21, I received a Ménière's disease diagnosis and I searched and found a specialist at UMass Worcester for treatment.

Being given a definitive reason for my debilitating vertigo brought immense relief. At last, I could give a name to the source of my misery and take appropriate doctor-directed measures. I reduced my sodium intake, kept my weight in check, and tried my best to reduce stress.

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I was prescribed a low dose of Klonopin (taken daily) and Ativan (when I felt an attack coming on), which I took diligently for nearly 3 years before I decided I would rather not be reliant on drugs for the rest of my life. I voluntarily gave up driving for 2 years, not knowing when an episode would hit. Klonopin allowed me to lead a somewhat normal life and kept my vertigo at bay. Taking that daily, I was able to go to my college classes most of the time and began to drive a car again. Weaning myself off of Klonopin was one of the most difficult things I’ve ever had to do. It took me 9 months, but my body was able to compensate for the change as I slowly took my reliance off the drug and onto my own vestibular system. I took up yoga, started running marathons, encouraged the positive relationships in my life to outweigh the negative ones, and have continued my low-sodium diet for over a decade. My life is infinitely better becoming consistent with these practices.

At 23, I received a cochlear implant in my left ear at the recommendation of my audiologist. The day after my surgery, I had vertigo for 18 hours straight. Fortunately, I’ve never experienced something like that since. And, after getting my implant programmed and hearing my audiologist ask, “Can you hear me?” I knew it was the right decision. Cochlear implantation has enabled me to become more independent and, therefore, happier. I’m still excited by the new sounds I discover each day.

I started running long distance when I was 29, and am hooked on how good running makes me feel. Since I’ve started, my vertigo happens far less than it ever did (only 3 or 4 times a year!), and I know I am the one in control, instead of feeling as if Ménière's disease controls me. I’ve run 5 half marathons and 6 marathons, with my 7th in March in Washington, D.C. and 8th in June in Portland, OR.

At this point I can say Ménière's disease and my initial negative experiences in undergraduate school have impacted my life for the better. Ménière's is a lonely condition but it’s forced me to become much more self-reliant―an important trait to finding both work and friends wherever I go, as I’ve moved around the country. Before I could depend on myself, I’d look to everyone else to try to do things just like them. In college, for example, I tried to listen and take notes at the same time during classes before realizing, at age 30, that I’m not able to learn the same way as someone with typical hearing. Once I realized that, my Masters degree was a breeze, and I was able to easily earn my 3.9 GPA.

Ménière's disease does not affect all people the same way.  Not everyone has the same symptoms so it can be difficult to diagnose. Also, there isn’t one specific treatment. If one method doesn’t help, then you need to try another. Be patient and realize you are stronger than you think.

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If I could, I’d tell my younger self―just after my Ménière's diagnosis―this: “You are stronger than you think you are.” The same goes for anyone becoming acquainted with the condition. I’d tell them, “You’re a champion.” I’m not yet a running champion; I have never placed in a race. Though I can run a marathon in under 4 hours, my dream is to reduce my time by 20 minutes to qualify for the Boston Marathon. There I can compete alongside some of the best runners in the world, doing what keeps me balanced, relying only on myself.

Rose DuMont lives in Arizona where she works as a teacher of the deaf. She was diagnosed with hearing loss at age 5 and is a participant in HHF’s “Faces of Hearing Loss” project.

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You Are a Masterpiece

By Sophia Boccard

The day before Fourth of July, 2012, the second diagnosis came in. “It’s true, you have Usher syndrome,” announced the retinal specialist. Baffled and unwilling to accept the corroboration of the first retinal specialist’s initial diagnosis, I immediately responded with, “I’d like another opinion—is there anyone you can recommend?” In between both appointments, I had learned that Usher syndrome is the most common genetic cause of combined deafness and blindness.

Credit: Evan McGlinn

Credit: Evan McGlinn

The hearing loss diagnosis was not a new discovery. It had been detected when I was 4; my parents were told I lost my hearing as a reaction to an antibiotic given to me during an emergency surgery. Since then, having moderate to severe bilateral hearing loss meant wearing hearing aids, attending speech therapy classes, and walking around with an assistive FM listening system in school.

Growing up with a hearing loss gave me a new perspective. I had to learn to defend myself against bullies who would occasionally yank my hearing aids and throw them in the trash. And yet, here I was refusing to accept this “other” condition and learning that I had a combined hearing and vision loss diagnosis. After 26 years of thinking otherwise, it was certainly a rude awakening to learn that the hearing loss was not caused by the antibiotic.

Just a few short weeks before, I had been sitting in my optometrist’s office for a routine eye exam to refill my prescription for contact lenses. The optometrist noticed some inconsistencies during my examinations and asked me to stay for more thorough exams. A standard 20-minute visit turned into a two-hour ordeal. After reviewing the results she somberly referred me to the retinal eye specialist who gave me the initial diagnosis.

This retinal eye specialist—who was the first person to utter, “You have Usher syndrome” to me—had the worst bedside manner. I refused to just take his word for it. Immediately after I left his office I cried—a lot—but then regained my composure and made a few calls to see a second retinal eye specialist doctor for a second opinion.

And so on that day in July, even after the second retinal specialist reiterated the first specialist’s diagnosis, I insisted on seeing a third specialist who would prove them both wrong.

I went to the National Eye Institute (NEI), part of the National Institutes of Health, in Bethesda, Maryland, for the third opinion. It was there at the NEI when everything came to a screeching halt and the final diagnosis was confirmed with a genetic test.

The test showed I was born with the mutated gene USH2A, a double recessive genetic disorder that requires both parents to have the exact same copy of the gene. Usher syndrome has three types—types 1, 2, and 3—each with many subtypes such as Usher 2A, Usher 3A, Usher 1F, etc. Combined there are approximately 400,000 people worldwide who have been diagnosed with Usher syndrome. But even with 400,000 people around the world with Usher, there still isn’t enough information easily accessible for individuals who receive this diagnosis.

Sophia and her family.

Sophia and her family.

That day at the NEI launched the next phase of my life. In the biography of my life, the following four years, 2012 to 2016, could be titled “My Wasted Years.” This is when I became a recluse, felt sorry for myself, and cried. Every. Single. Day. I had no way of expressing my sadness or even articulating my feelings, as I didn’t even know what it was I was feeling and how to cope with it.

Those were the years I felt as if I went blind overnight (and let me be clear, I did not go blind overnight—nor will I go blind overnight). I felt like there was this black cloud following me everywhere, hovering over my head and bringing constant rain, making me feel like a drowned rat.

Depression became my reality and my identity. I told a few people about the diagnosis but couldn’t elaborate on the condition since I felt like my world was ending. My desire to live was negligible. How could I imagine life with no sight? What would the quality of my life be like? What would I do without my independence?

These were all questions that ran through my head as the life I imagined living slowly started disappearing from my mind into total darkness. For four long years I asked myself repeatedly, What is the point? What do I have to look forward to?

Then it hit me. Literally. I was walking through Times Square during rush hour, a scenario that can overwhelm most people, when I slammed into someone who screamed into my face, “Watch where you’re going, a**hole!” It was in that instant that an internal shift took over and I shouted back, “Get out of MY way, a**hole!”

It was then I accepted I needed to stop looking at myself as a victim of a mutated gene and to start owning it.

I took a step back and recognized that all this time I had erroneously pitied myself. I felt sorry for my own future and what I was going to lose, and I forgot what it meant to just live life. In preparing for a future with vision loss, I was preparing for an apocalypse that would never come—unless I let it. I needed to stop judging myself and learn to respect myself all over again.

Thus 2016 marked the year of learning to be in control of my own reality, a brand new chapter in this biography of my life. I reached out to the NEI to connect me with someone with Usher syndrome who was willing to exchange emails and stories. Soon after, the NEI introduced me to another patient with USH2A who, after initially being pen (well, email) pals, we became “Ushties” (Usher + besties). Later that year I went to an Usher Syndrome Conference, held by the Usher Syndrome Coalition, in Seattle, and continued meeting many incredible, inspirational people who today are still some of my closest friends.

With these newfound connections I began advocating for both hearing loss and vision impairment communities. Through a friend, I was introduced to Hearing Health Foundation (HHF) and joined their Young Professionals Board for two years before being invited to sit on HHF’s Board of Directors. I also currently sit on the board of the Usher Syndrome Society and am involved with Young Professionals Groups at both the Foundation Fighting Blindness and the Greater New York Chapter of the ALS Association, fighting the progressive neurodegenerative condition known as Lou Gehrig’s disease.

My fiancé and I have also decided to learn American Sign Language as a tool to communicate with new friends from the Usher community. Fundraising and awareness events have started to fill up my calendar. I look at each event as an opportunity to educate those who are unfamiliar with the importance of hearing and vision health and what it means to lose your hearing or your vision, either in part or completely.

For me, it’s the lack of awareness about how the diagnosis of either hearing or vision loss can have an effect on the individual’s own mental health as well as that of their loved ones. There is not enough support for the recently diagnosed. The public isn’t familiar with how to accommodate someone with hearing or vision loss, and since both conditions are not entirely transparent—it’s difficult for people to recognize that they are communicating with an individual with hearing or vision loss —it makes it that much harder to help.

I’m most proud to have the opportunity to teach willing learners that being deaf or blind is not something to pity but rather something to respect. I strive to demonstrate to others that even with our limitations we can still do everything we want, even if we need a little extra help getting there.

Not too long ago someone said to my fiancé, “Sophia is so lucky to have you. You are an incredible person for staying with her even through her diagnosis.” Wait a second, what? My first thought was that my fiancé is the lucky one! To be fair, neither one of us is any more “lucky” than the other. We both equally  deserve each other—and despite comments like these, mostly well-intended (or not), no one will succeed at making me feel less of a person.

While we can each feel insignificant about our own lives when there are so many success stories of extraordinary people pulling off impossible accomplishments despite their limitations, let’s remember that we are each the star of our own story. We are the masterpieces of our own reality.

My story doesn't have a neat ending or a twist, reassuring the reader with a fairy tale conclusion. I’m just here to remind you, my new friend, that I’m not broken. I’m not half of a person; I’m not someone to “fix.” Usher syndrome is a part of who I am, but it is not my identity. I am a human being, who like any and everyone else, is whole and perfect just as I am.

If you have a health condition, don’t let it consume you. Own it. You are the badass who can survive against all odds. People are lucky to have you in their lives. Remind yourself to feel appreciated, get out there, and please, embrace your newfound celebrity status!

HHF board member Sophia Boccard works in digital marketing and lives in New York City. She wrote about an Usher Syndrome Society event she helped organize. This article original appeared in the Spring 2018 issue of Hearing Health magazine. For references, see hhf.org/spring2018-references.

Empower groundbreaking research toward better treatments and cures for Usher syndrome. If you are able, please make a contribution today.

 
 
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I Will Never Know What It’s Like to Not Feel Dizzy: My Ménière's Journey

By Lauren Edmiston

I can still remember the beginning—it’s my earliest childhood memory.

I was in the hallway of a house with my mom, my grandfather, and my brother when I started to feel weird, so I ducked into a walk-in closet to recover. Down on my hands and knees in the closet, the floor was caving in. I began falling in lightning speed, couldn't grab anything, and could only see bits and pieces of light. My surroundings were blurry.

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I was a four-year-old girl simply exploring the hallway of a house. That first memory was, in fact, my first ever full-blown episode of vertigo.

I was taken to the hospital for my first of many tests and doctor's visits as a child. Vertigo was not on anyone’s radar, much less Ménière's disease for someone so young. I was misdiagnosed repeatedly, starting with potential brain tumors and neurological disorders.

The dizzy spells continued throughout my childhood and became normal to me. Waking up some mornings and not being able to get out of bed was normal. Not being able to function with tall ceilings was normal. Sitting at church knowing that if I stood up from the pew to take about five steps I’d have an episode was normal. That sensation that starts out much like an anxiety attack, a sensation that I’d feel through my entire body before suddenly spinning uncontrollably, was normal. But it wasn't normal. I advocate for that little girl today because now I know the truth. It was a hard journey learning that I was different.

I was homeschooled, so it wasn’t until around age eight when I realized that not all kids functioned like I did and that there was something "wrong" with me. I was determined to do things my friends did, like gymnastics and soccer. Yes, I did both. Yes, I fell on the balance beam. Yes, I fell on the field. But I kept going.

Adulthood is not easy with Ménière's disease. But childhood with Ménière's disease? It shouldn't happen. Ménière's disease was still not an option or even discussed because of my age. I was 10 when my mother's best friend was diagnosed with Ménière's and recommended a doctor at the ear clinic. My mother’s friend and I always had similar quirks, after all.

I went and, just like that, I was diagnosed—officially this time. Six years of being “just a little different" instantly explained. But also, just like that, there was the realization that not a whole lot could be done. It was not very common to be a child with Ménière's disease—in both ears.

I entered a remission phase at 19 and I'm now 26 with two kids. I still have Ménière's and I will never know what it's like to not be dizzy. I still experience the dreaded ringing and fullness. I'm still incredibly sound-sensitive and I still have days where I wonder how I'm going to get through it with my kids.

I tell my story for parents that might be going through Ménière's with their children. I tell it for people that read my words and can relate to every single one. You’re not alone. You’re not just sensitive to your surroundings. You’re not over exaggerating; you fight a silent illness, you navigate an alternate universe. Never stop fighting for a better quality of life.

But, also, remember to share your story with honor. If you can relate, you can help impact lives of people just like you and me.

Receive updates on life-changing hearing research and resources by subscribing to HHF's free quarterly magazine and e-newsletter.

 
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Early Detection Improved Vocabulary Scores in Kids with Hearing Loss

By Molly Walker

Children with hearing loss in both ears had improved vocabulary skills if they met all of the Early Hearing Detection and Intervention guidelines, a small cross-sectional study found.

Those children with bilateral hearing loss who met all three components of the Early Hearing Detection and Intervention guidelines (hearing screening by 1 month, diagnosis of hearing loss by 3 months and intervention by 6 months) had significantly higher vocabulary quotients, reported Christine Yoshinaga-Itano, PhD, of the University of Colorado Boulder, writing in Pediatrics.

The authors added that recent research reported better language outcomes for children born in areas of the country during years where universal newborn hearing screening programs were implemented, and that these children also experienced long-term benefits in reading ability. The authors said that studies in the U.S. also reported better language outcomes for children whose hearing loss was identified early, who received hearing aids earlier or who began intervention services earlier. But those studies were limited in geographic scope or contained outdated definitions of "early" hearing loss.

"To date, no studies have reported vocabulary or other language outcomes of children meeting all three components of the [Early Hearing Detection and Intervention] guidelines," they wrote.

Researchers examined a cohort of 448 children with bilateral prelingual hearing loss between 8 and 39 months of age (mean 25.3 months), who participated in the National Early Childhood Assessment Project -- a large multistate study. About 80% of children had no additional disabilities that interfered with their language capabilities, while over half of the children with additional disabilities reported cognitive impairment. Expressive vocabulary was measured with the MacArthur-Bates Communicative Development Inventories.

While meeting all three components of the Early Hearing Detection and Intervention guidelines was a primary variable, the authors identified five other independent predictor variables into the analysis:

  • Chronological age

  • Disability status

  • Mother's level of education

  • Degree of loss

  • Adult who is deaf/hard of hearing

They wrote that the overall model was significantly predictive, with the combination of the six factors explaining 41% of the variance in vocabulary outcomes. Higher vocabulary quotients were predicted by higher maternal levels of education, lesser degrees of hearing loss and the presence of a parent who was deaf/or hard of hearing, in addition to the absence of additional disabilities, the authors said. But even after controlling for these factors, meeting all three components of the Early Hearing Detection and Intervention guidelines had "a meaningful impact" on vocabulary outcomes.

The authors also said that mean vocabulary quotients decreased as a child's chronological age increased, and this gap was greater for older children. They argued that this complements previous findings, where children with hearing loss fail to acquire vocabulary at the pace of hearing children.

Overall, the mean vocabulary quotient was 74.4. For children without disabilities, the mean vocabulary quotient was 77.6, and for those with additional disabilities, it was 59.8.

Even those children without additional disabilities who met the guidelines had a mean vocabulary quotient of 82, which the authors noted was "considerably less" than the expected mean of 100. They added that 37% of this subgroup had vocabulary quotients below the 10th percentile (<75).

"Although this percentage is substantially better than for those who did not meet [Early Hearing Detection and Intervention] guidelines ... it points to the importance of identifying additional factors that may lead to improved vocabulary outcomes," they wrote.

Limitations to the study included that only expressive vocabulary was examined and the authors recommended that future studies consider additional language components. Other limitations included that disability status was determined by parent, with the potential for misclassification.

The authors said that the results of their study emphasize the importance of pediatricians and other medical professionals to help identify children with hearing loss at a younger age, adding that "only one-half to two-thirds of children met the guidelines" across participating states.

This article was republished with permission from MedPageToday

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Some 1 Like You

By Makayla Allison

Our 6-year-old daughter, Lily, was recently diagnosed with Ehlers Danlos Hypermobility (EDS-HT). We received this diagnosis only after she acquired more than three dozen symptoms and diagnoses of uncertain significance, ranging from global joint pain and muscle weakness to tinnitus, and over the course of nearly five years.

It was a long and isolating time for our family as we tried to figure out what was going on. We so badly wanted to connect with someone who understood what our little one was going through, and when I asked Lily’s specialists if they could connect us with anyone, the answer was never yes due to privacy laws. Without a diagnosis it is nearly impossible to find groups of people in the same situation to talk to. And it can be even more frightening when the uniqueness of your symptoms isolates you even more.

The discovery of how Lily’s condition affected her hearing was both transparent and innocent. When Lily was 4 years old she asked me if the invisible bumblebees were going to sting her. She was so confused why she couldn’t see the bees that buzzed around her ears. It was shortly after she was referred to an ENT that we learned about tinnitus and that the sounds she hears come from inside her head.

Our daughter had a big desire to find a friend like her, but looking for someone else experiencing the same health challenges online, without posting them in great detail, was proving to be an impossible task. Her dreams inspired us to create Some 1 Like You (S1LY), an organization that connects people privately based on whatever health conditions they are experiencing, regardless of whether or not they’ve received a diagnosis.

According to the documentary film Undiagnosed: Medical Refugees, “The total number of undiagnosed patients is unknown but considered to be vast.... It takes an average of 7.6 years in the U.S. to uncover a rare disease diagnosis. Worldwide there are an estimated 350 million people living with a rare disease; add to [that number] patients still waiting for a diagnosis, patients who have been misdiagnosed, and adults and children who have diseases not yet named or recognized. Being ‘undiagnosed’ is not commonly considered to be an identity, but it should be. Helping people who are ill to feel that others are supporting and advocating for them, and know that they exist, can make all the difference in the world.”

Our mission for S1LY is to privately connect people across symptoms and diagnoses to empower the individuals facing these complex challenges. S1LY is unique because we can perform that search for people, while also keeping their health information private: To make these matches we take only their email address, as well as the health qualities, or groups of qualities they possess and are looking for in someone else.

Once a match is made, the email addresses of those members are shared with each other, and communication is then done only between members. It is our hope that this vast sharing of knowledge and resources among patients will make its way back to physicians and impact treatments as a whole across diseases.

S1LY has developed a Gifted Membership program to cover the lifetime membership fee to Some 1 Like You for constituents of qualifying organizations. 100 gifted memberships have been donated to the Hearing Health Foundation community. The first 100 people to submit their Connect Contact Forms to S1LY with the code “HHF100” will receive lifetime memberships to privately connect with Some 1 Like You members.

If you would like to explore gifted memberships for your patients or members at no cost, please email Makayla at gifted@some1likeyou.com. A portion of the proceeds of every S1LY membership goes to funding research on Ehlers Danlos Syndromes.

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When It's Not Just Hearing Loss

By Morgan Leppla & Laura Friedman

This year Autism Sunday, an international day to raise awareness of autism spectrum disorder (ASD), is on Feb. 12.

Did you know that one third or more of pediatric hearing loss cases overlap with another condition? This may sometimes be ASD, making treatment and management of co-occurring conditions a challenge.

In a 2007 report in the Journal of Deaf Studies and Deaf Education, British researcher Lindsay Edwards, Ph.D., cites an estimate that 30 to 40 percent of children with hearing loss have co-occurring conditions that could prohibit them from forming language, speech, and sociocognitive skills. But despite this large percentage, there is little research on hearing loss that occurs with other disorders. What research there is has shown the benefit of cochlear implantation for children with additional needs (such as physical or learning disabilities), and the difficulties of language acquisition and development for 3-year-olds with developmentally related conditions such as ASD, cerebral palsy, or Down syndrome.

One silver lining is that the fact that 30 to 40 percent of pediatric hearing loss may occur with other conditions may prove helpful in predicting future disorders. A July 2016 Autism Research paper suggests that a noninvasive measure of otoacoustic emissions in the inner ear—a common hearing test for infants, who are preverbal—may help identify the risk of ASD at an early age, accelerating treatment. Study author Anne Luebke, Ph.D., of University of Rochester Medical School, found that children with ASD often have trouble hearing a frequency range (1–2 kHz) that is important for understanding speech. The range includes sounds for the meaning-conveying consonants S-, H-, and F-.

Scientific conclusions can help shape future research, but cannot illustrate daily life for families with children with co-occurring conditions. Dual diagnoses make unlocking any child’s learning style challenging, but reviving research and upgrading professional training are essential tools in order to advocate for and successfully educate children with co-occurring conditions.

If you’re interested in funding research related to diagnosing and treating co-occuring disorders, such as hearing loss and autism, please consider donating today: hhf.org/donate or contact us at development@hhf.org.

This blog was adapted from an article original appearing in Hearing Health magazine’s Fall 2016 issue. For references in this story, see hhf.org/fall2016_references.

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Can a Mutation Predict Ear Infections?

By Regie Lyn P. Santos-Cortez, M.D., Ph.D.

Otitis media or middle ear infection is a common disease in childhood; in the United States, it is the most frequent reason for antibiotic use in children and pediatric office visits. Typically when children have otitis media it is usually acute. This means the duration of infection since the start of symptoms is under two weeks, and there is inflammation such as redness of the eardrum and pus in the middle ear, with or without the perforation of the eardrum (a hole in the eardrum).

In such cases, what causes the infection is usually a common bacterium such as Streptococcus pneumoniae (“strep”) or Haemophilus influenzae (including type B, or Hib). The infection can become chronic, so there is a persistent perforation that may not heal and a chronic or recurrent ear discharge.

Otitis media is typically treated with antibiotics and may require surgery. If left untreated, it can lead to complications, the most common of which is hearing loss. Today, there is a preventative vaccination available for bacteria (strep and some Hib) that cause acute otitis media.

Aside from young age, there are many risk factors that contribute to otitis media, such as lack of breastfeeding, allergies, upper respiratory infection, daycare attendance or overcrowding, exposure to tobacco smoke, low socioeconomic status, and family history. Over the past few years, the availability of new sequencing technologies has sped up the identification of novel genes associated with disease including infections and immune states.

Through funding from Hearing Health Foundation, our group studied an indigenous Filipino community that is relatively homogeneous, highly intermarried, and has about a 50 percent prevalence of otitis media. In this population quantitative age, sex, body mass index, breastfeeding, tobacco exposure or swimming in deep seawater were not associated with otitis media. All members of the indigenous community have poor access to health care and low socioeconomic status.

 

By using next-generation sequencing in two indigenous second cousins who have chronic otitis media, we identified a mutation in the A2ML1 gene that is shared by the two cousins. This gene encodes a protease inhibitor localized to the middle ear epithelium. (An inhibitor is a compound that traps protease—an enzyme that breaks up protein—and brings it to other cell structures for clearance.)

In this study, we reconstructed a large pedigree of 37 indigenous relatives with different forms of otitis media, and showed that each relative with the mutation has an 80 percent chance of having any form of otitis media. When the study was expanded to 85 community members, the A2ML1 mutation was the only significant predictor of otitis media within the community, and carriage of the mutation increases the risk of otitis media almost four-fold. Our study was published in American Academy of Otolaryngology–Head and Neck Surgery Foundation's journal on August 2, 2016.

Among A2ML1 mutation carriers, otitis media may be diagnosed within the first months of life, with chronic otitis media occurring in later childhood and persisting well into adulthood, suggesting that the mutation affects otitis media onset and recovery. Furthermore, mutation carriers with chronic otitis media have higher relative abundance of the bacteria Fusobacterium and Porphyromonas, which are relatively uncommon for the disease.

Taken together, these findings are consistent with the role of A2ML1 protein as a protective factor in the middle ear; defective A2ML1 protein makes the middle ear mucosa susceptible to damage from proteases produced by both bacteria and inflammatory cells. The mutation of the gene means its protease inhibitor action fails to trap and clear damaging enzymes.

Remarkably the same A2ML1 mutation that was found in the indigenous Filipinos was also identified in three European and Hispanic-American children, indicating that this mutation is not limited to the Filipinos. (It’s possible the same ancestor from Spain, estimated to be 1,800 years ago, introduced the variation to these populations.) The three U.S. children who carried the mutation also had early-onset otitis media that required surgery by six months. Additionally we also identified rare A2ML1 mutations in six other otitis-prone children in the U.S.

We have established A2ML1’s involvement in otitis media susceptibility and can use this knowledge to predict otitis media occurrence in mutation carriers. Now we are expanding our research by studying DNA and/or microbial samples from additional U.S. and Filipino families, and RNA and additional microbial samples from the indigenous Filipino population. Our goal is to identify additional genes and pathways that play a role in otitis media susceptibility and that may be targeted to develop novel treatments of chronic otitis media.

Regie Lyn P. Santos-Cortez, M.D., Ph.D., is an associate professor in the Department of Otolaryngology, University of Colorado Denver, Anschutz Medical Campus. A 2011 and 2012 Emerging Research Grants scientist, she also received the 2012 Collette Ramsey Baker Research Award (in memory of Collette Ramsey Baker, HHF’s founder).


The study “Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population” was published in the journal of Otolaryngology–Head & Neck Surgery online on August 2, 2016.

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Audiology Awareness Month

By Morgan Leppla

October is Audiology Awareness Month and Hearing Health Foundation would like to thank audiologists for all they do in diagnosing, managing, and treating hearing loss and other hearing disorders.

Pioneering ear, nose, and throat physiologist, Hallowell Davis may have coined the word audiologist in the 1940s when he decided that the then-common term “auricular training” sounded like a way to teach people how to wiggle their ears. Fortunately, their role in promoting health is far more important than that.

 

Audiologists diagnose and treat hearing loss, tinnitus, and balance disorders. Some of their main responsibilities include:

  • Prescribing and fitting hearing aids

  • Being members of cochlear implant teams

  • Designing and implementing hearing preservation programs

  • Providing hearing rehabilitation services

  • Screening newborns for hearing loss

They also work in a variety of settings that include private practices, hospitals, schools, universities, and for the government, like in VA hospitals (run by the U.S. Department of Veterans Affairs). Audiologists must be licensed or registered to practice in all states, the District of Columbia, and Puerto Rico.

Becoming an audiologist requires post-secondary education. One could earn a doctor of audiology (Au.D.), a master’s degree (M.A. or M.S.), or if interested in pursuing a research doctorate, a Ph.D.

The American Academy of Audiology provides a code of ethics that ought to structure audiologists’ professional behavior.  As in other medical professions, audiologists should strive to act in patients’ best interests and deliver the highest quality care they can while not discriminating against or exploiting whom they serve.

Audiologists are principal agents in hearing health. Their contributions to preserving hearing and preventing hearing and balance diseases are crucial to the well-being of millions.

Learn more about hearing healthcare options at “Looking for Hearing Aids? Find the Right Professional First.”

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Educating Children with Hearing Loss and Autism Spectrum Disorder

By Eric Sherman

Older Brother, Zach, Cole, and Eric (dad)

Older Brother, Zach, Cole, and Eric (dad)

Gallaudet Research Institute’s 2009-2010 Annual Survey estimates that about 40 percent of children with hearing loss exhibit another disability and notes the prevalence of autism spectrum disorder (ASD) to be 1 in 59. Early intervention is critical for the development of speech, language, communication skills, and learning. Some families are fortunate to discover their child’s hearing loss at a young age so an early intervention program can be implemented to help their child stay on track with their hearing peers.

What happens when your child is diagnosed with profound to severe hearing loss at 6 months of age, receives his first cochlear implant at age 1½ (second at before his 5th birthday) and spends a couple of years in auditory-verbal therapy (AVT) or speech therapy, but is showing little to no progress?

This was the case with my youngest son. After receiving a second cochlear implant at 1½ and then two years of AVT, my son was nowhere near his hearing peers in communication and language skills. My wife and I knew language development could be a long process, but our gut was telling us that something else was wrong. Our auditory-verbal therapist advised us to seek additional medical evaluations to see if there was something else prohibiting our son’s language development. After having evaluations done, our son at almost 3 years of age was diagnosed on the autism spectrum.

Having a child with hearing loss takes lot of work. Add autism to the mix and it is like trying to solve a puzzle without knowing which pieces are in play.

With intensive behavioral and speech therapy over the years, our son, age 11, has done well. He has become more verbal and can certainly communicate his needs and wants. What is difficult is unlocking the doors into his learning style. There is this blurred line between his autism and hearing disability. When our son has difficulty doing schoolwork, we always question whether he is hearing the information, whether he has a problem processing the information, or whether he is just not interested in the material because it has no real meaning to his everyday life.

Our son has been lucky over the past three years having a teacher who is very creative and skillful in engaging her students. But this has not always been the case. My family’s experiences have taught us that the school district needs more information and training on how to educate a child with both hearing loss and ASD. Service providers need to know how to address each disability individually and collectively understand how they impact a child’s overall education. We have a school audiologist who wanted to create a goal for our son where he tells his aide or teacher when his CI processors are not working. This is a reasonable expectation for a child with hearing loss, but when ASD is added to the mix this may be difficult to achieve.

A child with ASD may have to be taught what it means for their processor not to be working, as well as what to do after they determine they are not working. Furthermore, generalization of whether the processor is “working or not working,” “broken,” or “on or off” may be confusing and difficult to understand. Our son believes his processor is “on” if his headpiece was attached to his head. Also, a child with autism may prefer the silence and not notify anyone their processors are off.

The dual diagnosis of hearing loss and ASD has been documented for the past 20 years; however, research and clinical guidelines on how to find and teach young children with this dual diagnosis are sparse. School professionals and educators need more tools and training to better equip the growing number of children afflicted with ASD and hearing loss. Both Advanced Bionics, which makes cochlear implants, and Illinois State University have done work on this issue, calling attention to the need for better diagnostic tools, early intervention, and training of education professionals. Still, significantly more needs to be done.

Eric Sherman is a father of two boys. In addition to advocating for his son and others, he serves as a parent representative on advisory boards on how special education and family support services are implemented in his local school district. To learn more about Eric Sherman visit ciwear.com/Ourstory/index.html

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My Hearing Loss Journey

By Meghan Bayer

August 12th, 1996, I came screaming into the world. I had all my fingers and toes and my parents could not have been more proud of their “perfect” baby girl. I was (and still am) blessed by having two very loving parents,  and just over two years after my parents had me, they gave me the extraordinary gift of being a big sister.

Meghan (on right) with her dad and brother

Meghan (on right) with her dad and brother

As I went through my toddler years, I hit all my developmental milestones. Around the age of three and a half, my parents started noticing that I was always turning my right ear to the person speaking. Something wasn’t right. I was not reacting to sounds the way the typical hearing child should. My parents took me to my pediatrician who referred us to an audiologist. On September 28th, 2000, at the age of four, I was diagnosed with bilateral moderate-severe sensorineural hearing loss and immediately fitted with hearing aids. My dad and brother also have congenital hearing loss and wear hearing aids.

When I was first diagnosed, my parents’ worlds’ were shattered. My dad continued to be in denial and all my mom could do was hold me and cry. I think they felt I would somehow be limited in by abilities. As a way to recover and accept the diagnosis, we started taking family sign language classes which we all enjoyed.

My whole education, I have been mainstreamed in a private school. I had a very typical childhood; my mom drove me to soccer, dance, gymnastics… you name a sport and I have probably at least tried it. My days were filled with homework, playing outside, and evening swimming lessons. I was a well-behaved student that had earned the respect of all of the teachers, faculty, and staff. I maintained straight-A’s and regularly made the honor roll. At school, I had a hearing support teacher come in for a half hour twice a week during school hours to troubleshoot my equipment, review math skills, and occasionally play fun games.

In 5th grade, my family moved two hours away for my parents’ jobs. I didn’t know anyone and I was very shy. If someone asked me about “those things on my ears” I would stare at the floor silently.

Everything was different. I had a locker now, a bunch of teachers that didn’t fully understand my needs, and a new hearing support teacher. I lived in a new city and making friends seemed like an impossible task. I had to deal with my first real bully who would he call me names and physically abuse me.  When I defended myself from getting hit by a hockey stick, I got detention.

Through the years, my hearing became progressively worse until I was profoundly deaf in my left ear and so I was implanted with bilateral cochlear implants during the summer of 2010.  With intense therapy, I successfully learned to hear. I was constantly amazed at my new hearing world. With the increased ability to hear, my academic success improved dramatically and my confidence soared. I received my second implant just days before starting my freshman year of high school.

In order to fulfill my school’s foreign language requirement, they offered to let me take ASL. I politely declined and stated that I would be taking French. I was at or near the top of my class all four years of French. My sophomore year, I was given the French II Award for the highest academic average in my class. This goes to show that if you work hard, anything can happen!

Hanging out with friends, homework, community service and year-round basketball ruled my life. I was inducted into the National Honor Society, served as the president of the school’s service club, and enjoyed helping out with school events. By my senior year, I had over 800 service hours and I was awarded my high school’s highest honor for my scholarship, character, and service. I graduated with highest honors, a varsity basketball letterman, and as a member of the National Honor Society.

 

Today, I can confidently tell you that hearing loss will never be an excuse for me or any of my family members. My present goal is to earn my degree in Communication Rhetoric, minor in the Administration of Justice, and obtain a certificate in National Preparedness and Emergency Management. It sounds like a lot, but I’ll get it done because there are no excuses!  While I am by no means fluent, I do attend our ASL club on campus and continue taking classes.

Looking back on the journey, I am thankful that my speech was completely unaffected by my severe inability to hear during the prelingual period. I am grateful to my parents and I would not be where I am today without the help of each and every single person on my journey.

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We hope to hear from you soon! 

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