Tag Archives: Deafness

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!

The Future of Hearing Correction

Coming Soon

Coming Soon

It’s interesting to think through the parallels between vision and hearing correction over the years. First you had eye glasses, which could correct the shortcomings in vision, but through an outwardly visible prosthesis you wore over your ears and nose. Over time, the glasses got smaller and the corrective powers grew larger.

Then came contact lenses, which were equally effective, but completely invisible to the outside world. No one need ever know.

Finally came LASIK, which could physically correct the shape of your eye. In a sense you are “fixing your body”.

If you think about it, hearing correction is following a similar progression. First you had hearing aids, the “eye glasses” of the hearing world. They amplify sound and are worn in an external prosthesis that sits over the ear. Over time the aids have gotten smaller and more powerful, with recent models even fitting entirely within the ear!


In the Ear Hearing Aid

Then came Cochlear Implants, which could actually bypass damaged hearing nerves to provide a wider range of correction. Not directly analogous to eye glasses since they do more then amplify sound, but from an outward perspective they are still bulky and noticeable:

processor on ear

Cochlear Implants of Today

To me there are 2 logical next steps remaining in this progression: first, an entirely “invisible” corrective hearing mechanism, similar to contact lenses. And finally an actual physical “correction” to the body, similar to LASIK.

In terms of the first, research has already been underway on a “completely internal cochlear implant” for some time. As far back as 2000, a company called Epic Biosonics was working on a device that would be

“fully implanted into the middle ear….a microphone is implanted under the skin in the ear canal. This picks up sound and sends it to a speech-processing device which is similarly implanted under the skin behind the ear. “

(Totally Implantable Cochlear Implant History). In other words, an implant that is outwardly completely invisible!

This sounds fantastic until you read down further that “Epic ran into a particularly difficult technical hurdle and had to shelve the development of this exciting implant.” Epic was later acquired by Med-El (first discussed in my post on Big Business), which to my knowledge offers no such device currently.

In 2011 another company called Otologics was attempting the same feat, but then was later acquired by another CI vendor called Cochlear in what looks to be a bargain basement bankruptcy offering. Clearly there are some challenges still remaining with this technology, but the optimist in me feels it is only a matter of time before we figure those out.

Of course the true correction, the “LASIK” of the hearing world is further out still. There are really two aspects to this: better amplification of sound (glasses/contacts/lasik), and providing sound where there was none before (Cochlear Implants). In terms for the former, hearing loss is trailing vision loss, but in terms of the latter, hearing loss seems further ahead.

As little as I know about hearing loss, I know even less about blindness, despite being extremely nearsighted myself. I pray I do not need to become an expert on that topic, but nevertheless remain a constant technology optimist.

Progress marches on…

Big Week Next Week

So after a period of relative quiet, next week is a big week for Fiona. Monday she is having an MRI and Wednesday she will receive her first hearing aids.


I think most everyone knows what an MRI is: it provides a more detailed picture inside the body then is otherwise possible through X-Rays alone. For example:

Sample MRI Image

Sample MRI Image

Many of us may have even had one, myself included. What I didn’t know, however, was exactly how they work – it’s pretty amazing.

There’s a good article on one of my favorite sites HowStuffWorks about this, but its pretty long and technical. Here’s my vastly oversimplified explanation:

  • The body is made up mostly of water, water contains hydrogen, hydrogen has protons.
  • Magnetic fields from the machine align those protons in the direction of the field. A small number of those protons do not align.
  • Those protons that do not align are hit with a specific radio frequency wave that causes them to absorb energy.
  • When the wave is turned off, those protons emit that energy. That energy is then absorbed by “coils” in the machine that feed data into a computer.
  • The computer runs complex math to map that data into a picture like you see above.

Pretty magical stuff. Go Science!

Here’s a good infographic from the How Stuff Works article:

Steps of an MRI

Steps of an MRI

If you’ve ever seen a MRI machine, its pretty intimidating and claustrophobic:


Because Fiona is an infant, she will need to be sedated with general anesthesia for the procedure. As a parent, this will doubtless be tough to watch, but is surely better than a baby screaming her head off inside a big scary machine.

From this procedure we are hoping to get our first insight into the cause of her hearing loss, and more importantly her candidacy for Cochlear Implants (see my earlier post about Auditory Brainstem Implants). While it is not guaranteed we will have all the answers on Monday, we do expect to learn more of the puzzle.

Hearing Aids

On Wednesday Fiona gets fitted with her hearing aids. While we are not expecting any significant response from the aids, the audiologist advised us to bring a camcorder “just in case”.

Personally we don’t expect to see a response like we’ve seen from the CI and ABI videos in earlier posts, but it is possible Fiona will hear SOME new sounds for the first time. We’re keeping our expectations in check, but nevertheless I will keep the camera rolling “just in case”.

Stay tuned.

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.