Tag Archives: Profound Hearing Loss

The Genetic Tests Are In!

Close View of a DNA Strand

It’s hard to believe, but it’s been over 3 months since we first learned of Fiona’s deafness. We’ve come so far.

When this journey first began, we had 2 big fears: would Fiona be eligible for the Cochlear Implant and would this prevent us from having a second child?

A month later, our first fear was laid to rest: Fiona was pronounced eligible for the Cochlear Implant. I blogged about this on July 16th.

Yesterday we received the answer to our second fear: Fiona’s deafness does not appear to be genetic.

This is great news as it lays to rest our concerns about having a second child. It’s also good news for adult Fiona as she likely will not pass on hearing loss to her children (if she so chooses to have any).

We couldn’t be happier!



How Did They Test?

About two months ago, Fiona’s doctor drew blood to conduct the genetic testing. Apparently there are 3 known genetic mutations that are common to infant profound hearing loss.

Before I go further, i’ll put out the disclaimer that this information is very technical and difficult to understand. To make matters worse, the websites I found were very heavy in “Doctor-talk” so was hard for me to follow. I did my best to understand the high level concepts, but it’s very possible I missed some key details.

Connexin 26 and Connexin 30

Connexin 26 and 30 are 2 proteins used by the inner ear to communicate from cell to cell. A defect in the “GJB2” gene (good ‘ol GJB2!) can cause these 2 proteins to disrupt communication across the cells in the ear, leading to the inability of the ear system to function properly. Here is one of the better articles I found on the topic from the California Ear Institute.

For two hearing parents to have a deaf child with the Connexin mutation, both parents must have the Connexin mutation. This means the mutation is passed recessively to the child (since neither of the original parents were deaf). Fiona’s testing did not indicate this mutation, clearing her and her children of this possible cause.

Mitochondrial DNA Defect

Mitochondrial DNA defects are the other common genetic cause of hearing loss. Mitochondria are cellular structures that help “power” the activity of cells in your body. A specific genetic defect in the Mitochondria can lead to premature death of some of the cells specifically used for the process of hearing. For a medical layman this is somewhat hard to follow, but here’s a good article I found here: Yale Study.

And here’s a good but technical 4 minute video on the topic:

The mitochondrial DNA defect is only passed on maternally, meaning it can only come from the mother. Fiona did not have this defect either.

So What’s Next?

It should be stressed that medical research is still evolving quite a bit in this area, so its very possible there are other genetic factors at work here of which we’re simply not aware. We can’t know for sure, but as of today all known genetic factors appear to be clear.

At this point it’s unlikely we’ll ever know the root cause of her hearing loss, but we’ve been told that’s the case more then 50% of the cases. Perhaps medicine will shed some new light on this in the years to come, but at least for now we know the odds are low in a recurrence in future children.

Drinks all around!

Advanced Bionics Releases New Cochlear Implant

Advanced Bionics New Implant

Advanced Bionics New Implant

For those who don’t know, last January I threw caution to the wind and joined an early stage technology startup called Zoompf with my good friend Billy Hoffman (an avid follower of this blog). When you start a technology company, you quickly learn the value of following industry newsletters, setting up a hundred Google Alerts, diving head first into all forms of social media, and just altogether getting “plugged in” to the industry. I’ve learned A LOT about this in the last 8 months.

When Fiona was diagnosed with profound hearing loss, i quickly applied these new skills to the Cochlear Implant industry as well. In my earlier post about  The Big Business of Cochlear Implants, I called out 3 leaders in the space: Cochler, Med-El, and Advanced Bionics.

Today, my various alerts fired off en masse about a new product release by Advanced Bionics: their new Naida CI Q70 Cochlear Implant. (Yeesh what a name, “Hey we’re all technical and futuristic”…). Eliza and I have actually been following development of this implant closely as we’ve heard of people holding out on their CI surgery to get this new implant since it was a big leap forward. This implant may be a big contender in our choice for Fiona when she’s eligible next year.

I’m still learning more about the details, but here are the specs from their marketing department:

  • 55% improvement in speech understanding in noise1 when AB ClearVoice* and Phonak UltraZoom features are used together
  • 100% wireless connectivity streaming from consumer electronics by leading brands, including Apple, Samsung, and Nokia
  • All-new Binaural VoiceStream Technology designed for improved hearing in noise
  • Bimodal streaming media can be streamed to a compatible Phonak hearing aid and a Naída CI sound processor at the same time!
  • 40% smaller than the previous behind-the-ear sound processor incredibly lightweight for barely noticeable on and off-ear comfort
  • First-ever bilateral feature for easy use and peace of mind each processor can be programmed for both ears so the best ear can still hear if a second processor is misplaced
  • Compatibility with AB performance innovations, including ClearVoice, AutoSound, HiRes Fidelity 120*, and HiRes Optima Sound Processing
  • All-new, discreet T-Mic 2 microphone

There’s a lot of marketing speak in here, but my interpretation is basically this: “Our sound quality is a lot better, and it’s a lot smaller.”

How real is this, I don’t know. We’re looking forward to learning more from independent sources. Advanced Bionics is also coming to Atlanta on November 3rd to give an information session on the new technology, so Eliza and I will be attending.

We may have to choose an implant for Fiona as early as next February, so we’re watching this one closely. Stay tuned…

Frequencies of Familiar Sounds

This is a useful diagram that helps explain the hearing retest I posted about last time. It shows the frequencies and volume levels of common sounds such as water dripping, a piano playing, and a bird chirping. It also shows the “speech banana” including common phonemes such as “j”, “ch”, “th” and where they fall (see my earlier post for more information).

Frequency Spectrum of Familiar Sounds

Frequency Spectrum of Familiar Sounds

Note also the ranges of loss on the right hand side: “mild”, “severe”, “profound”, etc.

I highlighted in red the approximate area where Fiona responded in her right ear during the retest.  There were no responses in her left ear.

The funny thing is that in her original test, the results were the exact opposite (left ear instead of right). Unfortunately this discrepancy needs to be resolved to properly program her hearing aids, so the tie-breaker test is coming on Monday.

Anyway, I thought this diagram gave a helpful perspective. I guess Fiona will be enraptured the next time I mow the lawn 🙂

Oh Yeah, We Have a Baby

Rough night tonight.

Despite all our focus on profound hearing loss, from time to time we need a reminder that we’re in fact also raising a newborn infant. Fiona saw fit to vocally remind us of that on an hourly basis tonight. Nothing serious mind you, just standard newborn “fussiness”.

Um, do you want to quiet that child of yours?

Um, do you want to quiet that child of yours?

As I was reaching for the ear plugs to salvage some sleep, two things dawned on me: (1) I have an amazing wife with infinite patience and (2) it was incredibly ironic to be putting in ear plugs to muffle the sound of my deaf daughter.

The ear plugs didn’t last long unfortunately. I need noise to sleep. In fact, on a typical night we have 3 separate “white noise” sources: the ceiling fan, an air filter that has long stopped filtering air, and (new addition) a bona fide white noise generator. Sleeping in silence is harder then it sounds.

This had me thinking: at best with the ear plugs my hearing was at a simulated “Mild” level of loss (see my earlier post on the Flintstones). Not even remotely close to profound. Try walking around the house with earplugs in sometime – or if you’re alone and have none handy, stick your fingers in your ears. Its okay, nobody needs to know.

Its harder then it sounds. There’s so much we take for granted – the sound of our feet on the floor, the squeak of the bathroom door, the sound of the grumpy dog stirring from the baby crying. Countless audible cues of our surroundings we take for granted.

Made me a little sad for poor Fiona, but tempered with optimism for the implants. And who knows, maybe she was crying because her ears were finally becoming “unblocked”. Yeah, yeah a long shot I know, but it never hurt to be a dreamer.

Now if only I could get back to sleep…

Fred Flinstsone Teaches Us About Hearing Loss

Here’s a fun 40 second video Eliza found – it shows an example of what a typical life activity, in this case watching the Flintstones, would sound like to individuals with different levels of hearing loss (mild-moderate-severe).



The blue shape in the graph is called the “speech banana” (no joke) and represents the region on an audiogram where the sounds of speech typically fall. The x-axis left-to-right represents increasing frequency heard (think bass to treble) while the y-axis represents an increasing volume (dB) threshold needed to hear that frequency. The red line shows the actual threshold limits for individuals with the various levels of loss throughout the video.

As the video progresses, watch as the right side of the red line dips further down. Once it dips below the blue “banana” you can instantly hear the speech getting muffled. The further it dips, the worse the effect. It is more typical to have loss at the high frequencies then low ones, hence the uneven slope of the line.

Hearing aides help by amplifying the problematic frequencies, or in the example above, by raising the red line back up on the right hand side. People with “profound” loss, though (which is rated even beyond severe) have too little signal to work with and thus amplification from an aide will not help. That is where Cochlear Implants come in.

I thought this was an interesting way to help visualize the differences, even if Fred was being a jerk…

The Great Sign Language Controversy

Peace, Brother

The very day we learned of Fiona’s deafness I ran out to buy a baby sign language book. Yes, I actually went to a STORE to buy a book. For this job, the Kindle wasn’t going to cut it.

Eliza and I flipped through the various signs and thought to ourselves “this doesn’t look too bad, what great parents we will be!”

Not so fast.

Learning sign language seemed a no-brainer to us, but little did we know we stumbled into a controversy, and the source is our friend the cochlear implant.

The controversy goes something like this: because implants are now an option, many parents believe that sign language is becoming unnecessary. And not just unnecessary, but in fact can be detrimental to learning verbal language. Why? Because signing is “easier” and the child will grow lazy.

The opposing argument is that signing is the natural language of the deaf, denying this training is denying the child a successful integration with the deaf community. In a sense, the child will not fully exist in either world.

More extreme viewpoints even say that the child should not be given a cochlear implant until they are 18, at which time they can make an informed decision for themselves. “Hearing” parents are trying to fix something the deaf community views as not broken.

Here’s a good article that talks about this in more detail.

Our Viewpoint

We’re still new to this and definitely don’t have all the answers, but we clearly have a bias, admittedly colored by being “hearing” parents:

  • There’s no definitive proof signing inhibits language development, provided appropriate effort is applied in their education. In fact in some cases, it actually helps. The key is you have to put the effort in. Here’s an interesting whitepaper.
  • We do feel sign language is important to learn and will be doing so IN ADDITION to verbal language. Its harder, but ideally a “best of both worlds”.
  • If Fiona is eligible, we are ABSOLUTELY doing the cochlear implant, and as early as we can (age 1). We understand the right to choose argument, but in this case we feel the cost of waiting is just too high. 18 years squanders all the key language learning years. She can always choose to turn off the implant when she’s older.

We would love to learn more from those who have been through this, though, on both sides of the issue. We promise to keep an open mind.

The Bionic Man

Cochlear Implants

The Bionic Man

The Bionic Man

Wow. Simply Wow. I had no idea. I feel like I’ve been living under a rock.

Cochlear (“koe-klee-er”) implants sound truly amazing. Here’s the wikipedia page, but my oversimplification is this: an electronic device is inserted into the skull to connect directly to the auditory nerves that transmit sound to the brain. This device, coupled with an external microphone, can transmit the sensation of sound to the brain, completely bypassing the nonfunctional aspects of a deaf ear. Freakin amazing, and best of all…it’s also called a BIONIC EAR. How freakin’ awesome is that?

Cochlear Implant Illustrated

Cochlear Implant Illustrated

My words do not do this justice though, so check out this 1 minute video.

Cochlear implants have been around for 20+ years now. Of course I’m an old fart – when I was a kid in the 70s/80s, they were not so common. I blame that and my lack of friends with hearing loss over the years for my lack of a clue here.

So now I temper my excitement with the caveats. This not a “cure” for deafness, the sounds produced are nowhere near as detailed as what a healthy ear can process. This video shows examples of what voice and music sound like through an implant. It’s both depressing and inspirational to me, depends on my mood. It’s fantastic that sound is now possible where only silence was before, but its depressing that the sound quality is still very low.

Still though, there’s hope:

  • In many cases this is GOOD ENOUGH to participate without assistance in society
  • The technology will ONLY GET BETTER in the years to come, quite possibly reaching parity by the time Fiona is a teenager! (and why stop there – let’s rev up the super powers now!)

To me the key is moving on this fast before Fiona’s language patterns start developing. Implants can now be done as young as 1 year old, well within the early learning plasticity stage, and we will definitely be hopping on that day one!

We’d love to hear more from people who have had experience with cochlear implants. Hundreds of thousands of implants have been done in the last 20 years, with the implant age getting younger and younger over time. From the videos we’ve watched, the earlier the better so one year old could be fantastic.

Of course, right now we just don’t know. Still so much to learn…

The Hearing Test

If you’re like me, you probably have no clue how you could possibly test hearing on an infant who can’t even speak. What’s even more fascinating is that they can test infants a DAY AFTER they are born! Incredible.

How does it work?

Well actually there are 2 different kinds of tests. The first test, conducted 1 day after Fiona’s birth and again a week later as a retest was called the Otoacoustic Emission (OAE) Test. In my layman’s non-medical understanding, what they basically did was insert a small probe into her ear that generates sounds and captures the “echo” back from that sound. They can then measure if that echo looks normal or not. Its pretty quick and non-invasive, provided the baby can stay quiet for 15 minutes.

All new infants receive this test today, but it is not uncommon to fail due to ear blockage from the birth. This is why we were not too concerned when Fiona failed her first (and even second) tests.

So after failing the first 2 tests, they pulled out the big guns 1 month after her birth. This was a test called the Auditory Brainstem Response (ABR) test. Basically it measures how sound introduced into the baby’s ear translates into electrical responses received by the brain. Here’s a great  explanation from MedicineNet.com.

The test is performed by placing four to five electrodes on the infant’s head, after which a variety of sounds is presented to the infant through small earphones. As the hearing nerve fires, the sound stimulus travels up to the brain. This electrical activity generated by the nerve can be recorded by the electrodes and is represented as waveforms on a computer screen. The audiologist can then present different loudness levels of each sound and determine the softest levels at which the infant can hear. For infant-screening purposes, only one sound is used to test the hearing, commonly referred to as a “click.” The click is a grouping of several sounds to test a wider area of the hearing organ at one time. The click is typically presented at a loud level and a soft one. If a healthy response is recorded, then the infant has “passed” the hearing screen.

Here’s what the equipment looks like (stock picture, not Fiona). As you can guess, “Fiona was not impressed” with this setup:

Screen Shot 2013-06-09 at 11.12.46 AM

ABR Response Test Equipment

Sitting through this test was not pleasant – it took about 3 hours to run, while you’re sitting there in darkness and silence watching the audiologist fidgeting with various graphs on a screen, all the while having little clue if the graphs are “good” or “bad”. In addition, the baby needs to remain quiet and still, which is an immensely taxing chore, especially for mom.

The screen the audiologist is looking at looks something like this:

Screen Shot 2013-06-09 at 11.30.13 AM

I don’t pretend to understand 1/100th of how this works, but I’ll tell you what I learned: they test each ear individually, measuring responses to different frequencies at different volumes (dB levels). Low frequencies (like the booming of a subwoofer) are easier to hear while higher frequencies (breaking of glass) are harder. This is why you can hear the ground booming when walking up to a concert well before you hear the singer, especially annoying teeny-boppers like Bieber…

During this test they are basically measuring 3 different variables:

  1. The frequency: can the infant hear some frequencies (base drums) better then others (glass breaking)?
  2. The volume (dBs): are some frequencies just “quieter” then others and can be amplified?
  3. The ear: is the left different then the right?

Each different graph captures a different combination of the above 3. I don’t know how to read those graphs beyond saying “the bigger the peaks and drops the better”. If the line is essentially flat, that means no response at all.

Most infants have various responses at various frequencies and volume levels. Some may look just fine, while others can be corrected by “turning up the volume”, which is basically what hearing aids do.

Fiona was flat at all frequencies and all volumes, in both ears. This means “profound” hearing loss, and something that is likely not correctable by hearing aids. (to be fair there was one low frequency in one ear that got a small result at very high volume level, but that could be an artifact of the testing precision. We’ll know more in a later retest).

The good news is there are now options (beyond sign language, which is also awesome) for profound hearing loss in the form of cochlear implants. I’ll talk more about that in a future post, but we’re very excited there.

Hearing loss is the most common birth defect today. I had no clue. Apparently 3 out of 100 babies have some level of hearing deficiency. This is why they test so early now – and it is true wisdom. Babies begin learning language within their first 6 months. As you can imagine, hearing is a huge component of this, and the earlier you are aware of the problem, the sooner you can act on it to help speech develop normally.

In this regard we feel truly fortunate. Knowing for sure within 1 month (1 month!) after birth has set us on a course NOW that we’d likely not have otherwise started until 1-2 years old, well past the start of language learning. This makes me much more optimistic in our ability to educate her well in these early stages.

A Fork in the Road

Mothers Day 2013

Mothers Day 2013

Our daughter is deaf.

Well technically she has “severe to profound sensorineural hearing loss”, but what that really means to us is she is completely deaf. Not partially deaf, not hard of hearing – flat out deaf. No sounds, no frequencies, nothing.

I know almost nothing about hearing loss – it doesn’t run in my family, I didn’t grow up with it, I don’t know anyone with hearing problems. Same is true for my wife Eliza. Sure I remember the occasional kid in grade school with hearing aids, but it was never a part of my day to day life. I was never mean to those kids nor had any ill will, it just simply wasn’t a part of my world. To say this was a surprise is a fantastic understatement.

I’m not even sure if I should call it “deaf”. Our audiologist never said the word – we couldn’t tell if she was just being nice, or its just not politically correct to use it now. I guess we’ll find out soon. “Hearing Loss” just doesn’t seem the right words – how can you lose something you never had?

So here we are 3 days after the diagnosis and still coming to terms. We’ve had the entire range of emotions: disbelief, denial, anger, humor, confidence and despair, often repeating in random progressions. Its almost like that funny scene in the movie Airplane where Leslie Nielson describes the various stages of food poisoning (“first they will vomit, then be confused, then have uncontrollable flatulence…”), all shown in ridiculously far-too-quick transitions from one to the next.

So here I am starting up a blog. I’ve never done this before, but felt strongly compelled.

Why? Many reasons and no good reason. I want to attack this problem and get strength from numbers. I want to share news with those who want to know, without upsetting those who don’t. I want to learn more about this condition and maybe, just maybe help others like me learn a tiny bit more. I want to (perhaps selfishly) have an outlet for my thoughts and feelings.

But I think above all I want to give Fiona the best shot of kicking ass in life, and I think sharing her story will help make that happen.

What I don’t want this to become is a “woe is me” outlet. We just don’t work that way. Sure there is some of that right now and I can’t promise it won’t resurface from time to time, but I really want this to be a productive, enlightening and (if I don’t F it up) an inspiring story we share along the way. I know Fiona is very lucky to live in the age we do now – there are many great technological and social resources available, and we have hands-down the BEST friends and family there is.

It really takes a village to raise a child. If you’re willing, come join us on this trip and I promise you you will grow with us as part of this journey.