genetics

My Personal Hearing Loss Story

This might be a bit of a bore, but I just got hearing aids and there are a lot of people shocked to learn that I have hearing loss. Shoot, even I am a little surprised in some ways. So here is the story start to finish.

When I was a little girl my parents took me in for a hearing test because it didn’t seem like I was responding as well as I should. At the time I was diagnosed with stubborn toddler syndrome. In other words there was no sign of hearing loss.

I never struggled in school or carrying on a conversation so the idea of hearing loss didn’t come up again. In high school I realized that I couldn’t hear really high pitches that my friends could hear, but that’s not a big deal.

When I was 20 (2002) I had a bad episode of vertigo and experienced ringing and stuffiness in my left ear.

I expected it to subside, but when it didn’t I found an ENT and had a hearing test done. Their report showed mild hearing loss, but I was told there was no remedy and to just play music to distract me from the ringing. It was such a discouraging consultation considering I had no insurance at the time and shelled out $350 for the exam. I just wanted some answers. I wanted help.

Fast forward about 10 years (2012) and my daughter SJ was diagnosed deaf.

Her hearing loss is genetic, but we were told that J and I are both carriers of the genetic mutation. So it’s recessive. We have no history of deafness in our families.

In the mean time my hearing seemed worse, but I put my needs on the back burner. I thought maybe I was imagining it because there was so much focus on hearing loss in our home. I was always misunderstanding people or not hearing them at all. One day my sister in law asked if I ever considered getting hearing aids. I dismissed it because compared to SJ I was hearing just fine. I was in denial.

However three years later (in early 2015) I bit the bullet and decided I would have another hearing test done. I went to a GP who referred me to an audiologist. The audiologist tested me in a sound booth and the results showed that I had moderate to severe hearing loss on the left and mild on the right. I had so many questions for the audiologist, but she had no answers. She said that I needed to see a different doctor. They told me they would call me and they never did. I could have followed up and been more assertive, but I had three children plus one on the way and again I put my needs on the back burner.

After Elle was born she failed the newborn hearing screening. I swore she could hear because she flinched and startled to noise. Yet she failed the screening over and over again. Sadly, I knew this meant she would eventually be deaf like her sister. HOWEVER, the genetic test (which takes about 6 weeks for results by the way) showed that her hearing loss is different than SJ! Her hearing loss is still genetic, but it’s generally a mild hearing loss. None of us saw that coming. The geneticist said the only way this is even possible is if either the mother or father also have this hearing loss. I voluntarily suggested that it was me. Basically between SJ’s DNA and Elle’s DNA they uncovered the missing link to my hearing loss mystery. So they ordered a genetic test for me just to be sure. I got it back a couple weeks ago and it confirmed that I do in fact have hearing loss due to genetic mutation (I know that sounds weird). I asked about why it didn’t show up as a real problem until later in life and so far no one has an answer for that.

Regardless, now that I had it in writing with DNA evidence I was ready to do something about it. I went back to the same doctor, and was sent to another doctor, and then to the audiologist and was tested AGAIN and FINALLY got my hearing aids. So even though it looks like this diagnosis and treatment came from out of nowhere it’s kind of been leading up to this point for a long time.

So that’s the back story. I have a daughter who is deaf, a daughter who has mild hearing loss, and between the two of them I finally recognized that I have moderate hearing loss.

Of course everyone wants to know if it’s related to gender at all, but it’s not. That part is completely coincidental.

I am still getting used to the devices, but I do feel like I can hear a lot better with them. That does not mean that I hear perfectly though, so please be patient with me if I am not understanding or if I have to ask you to repeat yourself. Thankfully I have been reminded by several professionals that no one hears perfectly so I don’t need to feel bad.

This whole hearing loss journey has been a wild ride, but I at least we’re getting somewhere.

The Deaf Elephant in the Room

All of my pregnancies and deliveries have been just about textbook, but there is one aspect of my pregnancy that is unusual.

It’s not something I want to make a big deal out of all, but I feel like it should be okay to acknowledge and talk about openly. The proverbial elephant in the room if you will.

My entire life I have been a carrier of a genetic mutation called connexin 26 and so has my husband, but we never knew it until three years ago. You may be a carrier of some kind of genetic abnormalities too. The thing about being a carrier is that it doesn’t affect you. From what I understand we all have genetic abnormalities. I believe it is approximately 1 in 50 people that have Cx26, if I remember correctly. I can’t seem to verify this information online so don’t quote me on that statistic. Anyway, it’s not all that uncommon, but like I said carrying only one copy of the gene doesn’t effect you, however if you have a child with someone else that has a copy of that gene you have a chance that you will pass one gene from each of you to that child. If the child has two copies of the mutated gene then they will be deaf. There are a lot of diseases and genetic abnormalities that work this way, so you may be familiar with the science behind it already.

Here is how it works when you have Connexin 26.

We have a 1 in 4 chance of having a child that gets two copies of the normal genes which means no genetic hearing loss at all, not even carriers (as shown in blue).

There is a 2 in 4 chance of having a child that receives 1 copy of the genetic mutation (shown in purple).

Lastly we have a 1 in 4 chance that the child will receive 2 copies of the genetic mutation and be deaf (shown in red).

I wrote all about it here on the blog when I first found out.

We never suspected that SJ’s hearing loss was genetic because we had no history of deafness in either of our families. She had testing done just before my due date when I was pregnant with Ezie. I remember talking to our speech therapist saying that I didn’t know if I wanted the results before the baby came because if it was genetic then I would be worried. They assured me that I did not have to hear what the results were until I was ready and it could wait. My response to that was, yeah right I am not going to have the patience to wait one extra second for an answer! I was just too curious about how all of this happened. In the end the problem took care of itself. Ezie was born passing the hearing test and then about a week later I learned of our genetics so I didn’t have to worry.

I say all of that because this is the first pregnancy where I am well aware of my odds. This child could be deaf and I know it. In fact I know lots of families from SJ’s school that have proven that it doesn’t really matter what the statistics are. The chips will fall where they may (if that’s how you want to look at it). I know a Cx26 family where 2 of their 3 children are deaf, one where 2 of 2 are deaf, another that has 3 of 4 even! So even though J likes to joke that we have our 1 out of 4 so we’re done, it obviously doesn’t really work that way.

It’s nice to have other families in the school that I can talk to because they’ve been in my shoes. I know one mom whose first two children were deaf and the last one was not. She tried to make nothing of it, but she distinctly remembers her last baby going berserk in her belly when the fireworks were going off on the 4th of July and she felt like the baby must be able to hear. She was right. I know another mom who said that with her 2nd (out of 3) who was deaf she didn’t have any clues until after the baby was born, but she could tell almost immediately after knowing what to look for with her other two.

Honestly, it’s not something I think about too often. I am going to be fine with it either way, but of course we would love it if the extra challenge of hearing loss was not something that this child or our family has to face. I was reading recently in the updates about the baby that her hearing is fully developed now. The book encourages you to talk to your baby and play music for your baby. It says that the baby will be able to recognize our voices when she is born. I paused in that moment and just allowed the emotion to well up into tears.

We do talk to our baby girl, and again I want to stress that Connexin 26 is not something I focus on, but the fact is- it’s a possibility. It’s information I never had to face when I was pregnant with the other three.

Who knows what will happen. The irony of all this is when SJ was a baby we had her vision tested because Z had such totally unexpected vision and eye problems when he was a baby that he actually had to have surgery. There we were. worried about her eye sight when it turns out that she had hearing loss the whole time! So the moment I think I prepare myself for one thing a completely different issue arises. All I know is that each one of our children are hand crafted by God. They are fearfully and wonderfully designed and he knows each of us in the womb. I put all of my trust in the Lord and I have a peace about it. I really do.

We will have the standard newborn screening at the hospital just like we did with Ezie. I probably won’t announce it right off the bat if there are any concerns. I just want the initial focus to be on the baby and all the fun aspects of birth announcements. If we do have anything that needs to be addressed medically, we’ll tell everyone soon enough after our family has had time to process things privately.

So that’s about it. I know that was a lot of info and this is quite a personal update, but I did want to get it out in the open. As far what we can tell so far the sweet little baby girl is healthy and the perfect measurements for my due date (which is 99 days away). I am 26 weeks and almost done with the 2nd trimester. She will be here before you know it. We are overjoyed.