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.

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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.

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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.

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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.


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By | August 17th, 2015|Special Needs|6 Comments

Gender Reveal Video Announcement

I don’t usually post on Saturday nights, but I can’t wait a second longer to share the news! Watch the video until the end for the big announcement.

 

By | July 18th, 2015|Creativity, Pregnancy & Birth|10 Comments

The BIG Ultrasound

 

 

 

 

 

 

 

I can’t believe the pregnancy is already half way over.

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I am feeling well. I still get a little nauseous from time to time, but it’s definitely on the decline. The acid reflux is just barely starting to make short little unwanted visit. Boo. For the most part I feel fantastic though.

I am to the point that I feel the baby moving now and it won’t be long before the kids and J will be able to. We  have our FIRST ultrasound on Monday.

Quick poll for anyone who has had a baby in the past decade or so.

Did you have more than one ultrasound?

At my first appointment they said that if they were unable to detect a heartbeat at the beginning then they would, but that wasn’t an issue so they just went ahead with the exam and didn’t schedule a sonogram until 20 weeks. This is a first for me. I usually had one early on where you can see the tiny little bean inside and then a second at the halfway point.

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With that said, I’m excited to see the baby on the black and white monitor for the first time. This is always an emotional moment for me. Of course I want reassurance that the baby is healthy and everything is coming along fine and I am definitely anxious about finding out the gender!

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Most people are guessing that it is a girl. The pattern so far has been boy, girl, boy… So it seems a girl would fit right in with our current rhythm. However, I have had some STRONG boy vibes. So much so that I was worried about psyching myself out if I was wrong. I didn’t want the baby to feel like I don’t want a girl if that’s what I’m having!

It’s just that we have a boy name picked out already and the baby would be 3 years apart from Ezie  (whereas he/she will be 6 years apart from SJ) so I can picture the boys playing well together and being in school together. Another reason maybe that I was the only girl with 3 brothers in my family so I know what to expect with that.

On the flip side, if I am wrong and it’s a girl there are lots of things to look forward to with that. I was sorting through their stash of costumes the other day and I thought about all of the princess clothes that SJ would be grown out of before you know it and I have so many more little girl party ideas that I won’t even get to throw if I don’t have another girl. There is also dividing up rooms and the convenience of an even number of boys and girls per room.

I’m rambling out loud, but needless to say it’s a win-win regardless of whether the baby is a boy or girl. I am still really anxious to find out so that I can hit up the yard sales and also clear out some of the old stuff we won’t need anymore depending on what the gender is.

Did any of you other mamas feel like you knew what you were having? 

 

By | July 3rd, 2015|My Life, Pregnancy & Birth|2 Comments

Ten Pregnancy Symptoms I Had Before I Took the Test

I have so much suppressed details to write about this pregnancy. Three months into it and I have not blogged about any maternity stuff, other than the announcement. That might not sound like a big deal, but I have a chronic case of documentia. It’s a disorder that I made up to label my impulse to document everything.

So I do plan to catch up on all the first trimester updates, but let’s just start with how I knew I was pregnant.

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First of all I was not expecting to be pregnant. Here is the TMI version of the story.

I don’t do birth control pills or anything like that. I did once when I was a newly wed and have decided against it for the past 14 years due to personal medical reasons. However, we were trying NOT to get pregnant through every NFP (natural family planning) method in the book. Now some of you might laugh and say “Yeah, that NFP stuff is a joke and it never works”, but let me repeat I have not been on birth control for 14 years and the three children that I have were not accidents. Let’s just say we had a good system going. At one point at the beginning of this year we discussed the idea of having another child soon. Except we decided it wasn’t good timing and we wanted to wait a bit to be completely ready. From that point on though I will admit to being a little more laid back with charting and all that. It’s not the first time I have taken the casual-trust-my-gut approach to NFP. However, it is the first time it resulted in an unexpected pregnancy.

I knew pretty early on what we were in for. I made this list on March 23 (which would have made me almost 5 weeks pregnant). I even titled it-

“Am I Pregnant?”

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1. Weird Dreams

2. Fatigue

3. Late period

My period used to be all over the place so this one isn’t that big of indicator for me, but I was expecting to start any day.

4. Nausea

5. Ear problems

This is something I commonly struggle with when I am pregnant. That is part of the reason I had to go to the Doctor recently.

6. Forgetfulness

Not that I want to attribute everything I do to pregnancy, but there have been some CRAZY mix ups. I feel like I am in such a fog.

7. Insomnia

I knew when I woke up at 3:30 am hungry and unable to sleep that something was definitely up.

8. Metallic taste

During those first few weeks I had a slight metallic taste in my mouth. Which was probably the biggest indicator.

9. Numb Arm

My right arm had a lingering numbness to it. It’s not even a pregnancy symptom I have ever felt in the past, but when I looked it up, sure enough, it’s a pregnancy symptom.

10. Gas

Bloating and intestinal issues. Bleh.

From there the list just grew and was of course later confirmed through a pregnancy test. Even though it was kind of a tough first trimester I considered all the symptoms a blessing because it was a constant reminder that this was real. I knew it probably meant I was having a very normal healthy pregnancy.

Did any of you other mamas have tell tale signs when you were expecting? Did you know right off the bat, or were you oblivious for the longest time like those women on the show I Didn’t Know I Was Pregnant? Just kidding, don’t even get me started on all that craziness!

By | May 21st, 2015|My Life, Pregnancy & Birth, Uncategorized|8 Comments