Genetics 101/Hearing Aids

Just an update on everything with Miss Natalie.

Back in May, we met with a geneticist to discuss possible causes of her hearing loss. It was quite the visit going through both of our family lines, how many siblings we each had, how many kids they had, ages, etc. They like to get as much detail as possible. Tim, being Mr. Funnyman... when the doctor asked if there were any bad genes in his family line said, “Just bad hair and a bad taste in music.” We all got a good chuckle out of that.

If there is no family history of hearing loss, 50% of the time it comes back as Connexin 26 which is a gene mutation that causes hearing loss. It is an autosomal recessive gene.(Autosomal recessive means:A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease.) 

So with Natalie, it did come back as Connexin 26, which is a non-syndromic condition. (Which is good news... nothing other than hearing loss.) The geneticist then recommend Tim and I to be tested to confirm that both of us are a carrier for the gene, therefore passing it down to Natalie. We got those results back and did find out we each are a carrier for that gene, so it is in both of our family lines.

To best explain this, I got this from a book I am reading:

"Scientists have begun to identify a number of recessive genes that may be associated with hearing loss. Recessive genetic inheritance occurs when two normal hearing parents have the same abnormal gene for hearing. The parents are unaffected because they also have a dominant gene for hearing. But when two people match up the same abnormal hearing gene, they have a one-in-four chance of having a child with hearing loss. Screening is now performed only for the more common genetic abnormalities, among them the mutation called connexin-26, which is responsible for one third of all cases of genetic hearing loss."

I am quickly learning a lot about genetics. Every pregnancy, we have always had a 25% chance of having a child with hearing loss. Scary! So Natalie was passed on the bad recessive genes from both Tim and I giving her 2 bad genes = hearing loss. Dylan and Sophie have a 66% chance of even being a carrier of the gene, so later on in life when they have kids, they will want to be tested. If Natalie marries someone that is not a carrier, they should not have any children with hearing loss. If her spouse does carry the gene, they will have a 50% chance of a child with hearing loss. It is recommended all of our siblings be tested as well. 

Natalie is almost 5 months old now, and I feel like we have really gotten a solid grip on her situation. It has been a busy time, but we are grateful we know the cause, because so many families never know why, and we definitely like answers. They gave Natalie this hat to use to help her not pull her hearing aids out.

She is on her 2nd set of hearing aid molds now. The top picture is her first molds which she quickly outgrew. She now has some hot pink molds. We have another appointment in Chapel Hill in September with the audiologist. We will be doing booth testing, which is a behavioral hearing test so we will soon be able to really see if she is hearing anything with the help of hearing aids. At our October appointment, we will repeat the test and also head to Durham for another appointment where the cochlear implant team is. We will then start the implant process (picking out a company to use... there are 3 of them, discussing the procedure and everything involved with that.) I am excited to get it scheduled which most likely won’t be until the 1st of the year.

Red dot = right hearing aid 

Blue dot = left hearing aid

Anyway, I feel like things are moving along in the path they should be and I am really excited about the whole implant process. 

Just for kicks and giggles... this is Natalie with her first baby playdate with some ortho wives. So grateful we have so many kids in this ortho program!

Natalie, Avery & Payton

(Note - This is a picture of Tim and I pre-children)

COMMENTS:

Shelley Kay

Look at those chunky thighs that Natalie has... I love it! I agree... even though you can't change anything, it is good to know the reason behind things that happen. It makes it easier to deal with.

Friday, August 6, 2010 - 03:35 PM

Laura

She is adorable.  I am so glad you have answers.  I would hate not knowing why.  It is so awesome that she will be able to get implants.  I hope everything keeps going smoothly.  I am jealous of her with those three little girls.  Here in Pittsburgh Ben is the only ortho resident who has children and only two of the others are even married and both of them have wives with careers.  Needless to say, I feel like I don't relate to most of the other people here.  When I see things  like that picture I think how things could have been different.  We will never know if we made the right choice in coming to Pittsburgh over Charlotte.

Friday, August 6, 2010 - 06:09 PM

denise

That is nice that you were able to get a difinitive genetic answer as to why she has hearing loss and know it isn't part of a syndrome or anything else more severe.

That hat is pretty cute!  What a good idea to keep her hands off of her ears. 

I am glad things are going well for you in this journey and that you have so much hope and optimism.

Saturday, August 7, 2010 - 08:13 PM

Kelli J.

I'm sure it is great to know about the connexin 26 gene and to have some answers as to why the hearing loss, to know nothing else is abnormal, and to be able to carry on with getting Natalie the best of care. Those hearing aids are so cute and so tiny!  What a fun little play date! This year from January through July, our ortho program welcomed 8 babies including two sets of twin boys. Pretty crazy but so much fun. Love ya!

Sunday, August 8, 2010 - 02:02 PM

Melanie

I'm so glad you've got some answers.  I can't believe all that there is to learn about this.  She sure is cute.  I cannot believe she is 5 months already.  Time for solids???

Monday, August 9, 2010 - 04:32 PM

Big Week for Natalie

We have had a busy week so far. 

Monday, Natalie had visited an opthamologist to have her vision checked. Since she has lost one of her senses, her vision has been heightened and they always recommend a thorough exam. She has a little bit of astigmatism in both eyes (which can be very normal for a 3 month old) but it can also be an indicator of lazy eye. We haven’t noticed any turning in of the eyes or them being crossed so we aren’t really that worried about it, but she will have that rechecked at 9 months. 

Monday afternoon she had to have an EKG done. This was to rule out a heart condition called Long Q-T syndrome that can be associated with hearing loss. This only took about 10 seconds once the electrodes were placed and was a very easy appointment (despite me parking in the wrong parking garage and having to walk forever.) Her values on this test were normal, but on the higher end of normal so we will recheck her around 12 months. I think most kids that have this syndrome, the values would have not been normal so we are not worried about it.

(at home after a bath)

Tuesday was another speech therapy appointment. (or as they call.. Early Intervention Therapy.) This is Natalie’s early interventionist... Jenni. She assesses Natalie each week for an hour, teaches us how to communicate with her by using auditory verbal therapy. (so much more on this later.) She brings different toys that make noise and she evaluates her each week. It is a well rounded approach since our appointments at the audiologist are about monthly. 

Wednesday Tim and I took Natalie up to our 2nd visit at Chapel Hill. First up was her hearing aid fitting. We have the best pediatric audiologist in the state (if not the whole country) and are very fortunate for here expertise as well as her compassion. She will be a new grandmother at the end of July and she has been so excited playing with Natalie as she will be having a granddaughter too.

The hearing aid fitting was a 2 hour appointment. We were taught how to take care of the hearing aids, fitting them properly in her ears and all the logistics of them. We didn’t get any behavioral response to the hearing aids yesterday. They don’t do any sort of testing like she has previously had to see what levels she can hear at, so Pat started her off at a conservative volume level (although there is so much more than goes into this.) The hearing aids are connected to the computer and there is a software program for the brand she has... Naida, made by Phonak. Pat adjust and tweaks them in the computer and then programs it to that particular setting. We then can adjust the volume/decibel levels a little on our own. The hearing aids are so high tech and it was interesting learning about them. 

We pretty much will go up monthly and get new molds fitted as her ears are changing rapidly. We will fine tune the hearing aids and make adjustments as necessary. When Natalie gets a little older, we can start doing more behavioral testing to see what she can hear and get a better evaluation at that point. Right now, it is a trial period to see if she hears anything at all. We know going into this, that since she is so profound, hearing aids may never benefit her but if they get some sound into the cochlea that is good. By going up to our monthly appointments to Chapel Hill and using our early intervention therapist, we will start to get a better idea if she can hear anything and when/if she is a better candidate for cochlear implants. (which is most likely.)

Here are a few pictures of our audiologist and getting her hearing aids.

Right after Natalie’s hearing aid fitting, we headed straight over to get her MRI. That morning was a little difficult, since Natalie couldn’t have any breastmilk after 9:00 am. We checked in for the MRI at 12:30 and didn’t go back til about 1:15. She was not a happy camper during that time and finally cried herself to sleep. They gave her a liquid sedative that they put in a syringe and forced her to drink. It was hard for me to watch them do that. I thought she was going to gag on the syringe. She didn’t fall asleep immediately but took about 5 minutes and it started to relax her and she just looked like she was taking a nap. The other reason it was hard for me to watch was because we put our sweet kitty Phoebe to sleep last year and it reminded Tim and I a little too much of that experience.

Once she was sedated, they wheeled her into the MRI room and put some nice warm blankets on her. Tim and I sat in the room while the MRI ran. She slept the entire 30 minute scan. Once she was done, our audiologist met us down there and made some more ear molds for her for our next visit (easier to do while she is sleeping) and we waited for Natalie to wake up. She kind of woke up and then fell back asleep again but the anesthesiologist said it was ok to go home. So, we put her in the carseat, strolled back to our car and headed back to Charlotte. We left Charlotte that morning at 7:00 and got home around 6:00. It was a busy day but it flew by so fast. Our next appointment up there will only be an hour, so I am very thankful for that.

Now... just waiting for the MRI results. Our audiologist e-mailed me today saying it was good news but we haven’t heard anything official from our ENT yet.

COMMENTS:

rachelle

Amazing Story Missy..Hope all goes well with sweet Natalie..Technology is amazing now and I'm sure you're thankful for that.

Thursday, July 1, 2010 - 01:53 PM

Anonymous

You know, you are inspiring!  I know you have more than I can even comprehend on your plate- but you are handling it with such grace!  Those three kiddos are blessed to have you two as parents!  I know that hearing loss and my birth defects with my leg are totally different things, but my parents were AMAZING.  They did everything they could to make my life better and that is exactly what you are doing!  Life isn't fair- never has and never will.... but it's how we handle what is thrown at us- and my dear, you are a champion!  I wish I were still there so I could help while you are traveling for these long appointments!  I just want to squeeze and snuggle with this beautiful baby, Natalie!  Technology rocks!  I walk on it everyday- so I am hopeful for Natalie!  You have prayers and love coming from our little spot in Utah!

Thursday, July 1, 2010 - 02:02 PM

Anonymous

Sorry, I thought my name would automatically be added... the previous comment was from Erin Guenter!  Miss you!

Thursday, July 1, 2010 - 02:06 PM

Shelley Kay

You guys really were busy! I am sorry that the MRI reminded you of Phoebe... how sad. I think had I been there, I would have thought the same thing. Natalie is growing up so fast, and it will be interesting to see what her future has in store for her. That's great that there was good news- hopefully we'll be able to hear exactly what that is soon!

Thursday, July 1, 2010 - 02:23 PM

Katie

Congrats on getting through this week! Her hearing aids are darling! I'm so excited to see them. Rowan thought so as well. He looked at the pictures with me and was excited to see a picture of Jenni. I'm glad everything is going well!

Thursday, July 1, 2010 - 06:17 PM

Kelli J

What a week! And we can now officially say we're PGY 4's, wahoo!!! Such a long day but it seems to have gone well. Natalie looks so cute with the pink hearing aid. And the audiologist said good news so I can't wait to see what the ENT says about the MRI. I can't even fathom all the information you are taking in on how to care for and help Natalie. I am amazed at all that can be done and so grateful that you are getting the best help. Love you and miss you! Give Natalie a love for me...and Sophie & Dylan too!

Thursday, July 1, 2010 - 10:50 PM

Melanie

Wow, that is busy and what a trooper she's been.  I can't wait to hear the results...her hearing aids are really cute!

Friday, July 2, 2010 - 09:33 AM

Anonymous

She is such a pretty baby!  We're keeping her in our prayers.
Darcie

Saturday, July 3, 2010 - 11:38 AM

Jody H

Sounds like a very busy week for little Natalie. It looks like you are in good hands though. We will keep Natalie and you in our prayers.  She is such a little doll.

Tuesday, July 6, 2010 - 05:49 PM

Nana

Wow - what a day!!  I am so sure that you are happy that is over with.  You and Tim are troopers!  And the best parents beautiful little Natalie could ever want or need.  I am so proud of you and yours, and so relieved that things are going as well as they are!

Tuesday, July 6, 2010 - 07:59 PM

Natalie 3 Months/Visit to UNC

Tim and I headed to Chapel Hill this past Monday for Natalie’s first appointment up there at UNC. We stayed overnight at the Ronald McDonald House which is about 5 minutes from the hospital. It is a big house, with about 30 rooms. They are small rooms, with 2 small beds and a bathroom but then there are huge common rooms with t.v.s, a large kitchen, eating area, etc. You can pretty much eat whatever food they have in their fridges or cupboards too. We rented a movie from redbox and watched it on our dvd player while Natalie slept. It was nice to have some peace and quiet away from our other kids. We are planning on staying there again in 2 weeks.

We were very impressed with the program at UNC. We first met with our audiologist whom we will have until Natalie gets implants(assuming she gets them... then she would have a different audiologist that specializes in cochlear implants in Durham which we would see.) They did a repeat ABR test which measures how severely deaf she is. We didn’t get a response in either ear again, which we were expecting but they like to redo the test since it is such a huge ordeal. Plus, they have had some tests done before where they got a little different results. Natalie had to be ready to eat and fall asleep for her appointment and she did great. So, since there was no change on her test, it just reaffirms that hearing aids most likely won’t bring her to the level that she will need to develop normal speech language thus doing the cochlear implants. She will still get hearing aids, which we got molds for her and will be fitted at our next appointment. The hearing aids will still allow sound to get into her ears and help stimulate the cochlear nerve and any sound is good sound at this point. Throughout the next few months we will continue to go up and see what level the hearing aids are bringing her to. More on that later...

We met our doctor, Dr. Craig Buchman and Tim and I both really like him. He does a lot of these surgeries and we feel so comfortable with him. We met 2 kids in the waiting room that were in for rechecks on their implant surgeries so it was nice talking to their moms about their experiences. After discussing everything with the doctor, we are under the impression we can try to get her implants done between 10-14 months of age (assuming the insurance company allows before the age of 1.) We can do them both at the same time if we want or each one individually. We will have to read up on the pros/cons of that later on down the road. She will be 10 months on January.

Of course all of this is dependent on her MRI which will be done June 30th. Our doctor will be in Sweden at an implant conference and will e-mail us the results of that shortly thereafter.

This may be too much information, but I am just trying to keep a journal of our experiences with this. 

I wish I had better pictures to share of Natalie. A lot of the pictures she isn’t smiling but I can assure you she is a smiley baby. It is just hard to get her attention when I am trying to take her picture when she can’t hear me at all. She smiles a lot when you are looking at  her directly and it melts your heart.

She just turned 3 months yesterday. When they weighed her at the doctor, she was 13 lb., 10 oz. We just our in love with her so much.

COMMENTS:

Anonymous

She is so beautiful. I'm so glad you guys are getting some good help. My ward and I earned money for the Ronald McDonald House. Who knew it would someday help my own family?:) I love you guys and am thinking of you and praying for you. Oh, and by the way, you have the cutest blog I've ever seen.-Katie Poland

Friday, June 18, 2010 - 06:17 PM

Shelley Kay

I can't believe she's already 3 months old! She is such a doll.

Saturday, June 19, 2010 - 05:39 AM

denise

I am glad you had a good visit to UNC and with the drs.  We stayed at  a Ronald McDonald house once also. It is such a neat program. 

What a beautiful little girl she is!

Tuesday, June 22, 2010 - 11:50 AM

Nana

I have a special place in my heart for her!  She is sooooo beautiful.  I am so nervous for this upcoming with her eye test, MRI, etc.  I just love her!

Natalie Paige - Hearing Loss Update

Lots on the agenda with little Miss Natalie. Here are some updates on her hearing loss journey.

A few weeks ago we met with the geneticist to discuss Natalie’s hearing loss. Genetics are sometimes not black and white since that part of science is always evolving. The doctor did a thorough exam on her and could not associate any syndromes physically that would be related to her hearing loss. We went ahead and had her tested (she was brave getting her blood sample taken) for a few things that can be the factor. One of such is kind of common, it is called Connexin 26 gene. You can read about it here. He said it was about a 50/50 chance she may have it. It is a gene mutation that causes hearing loss. If she does have it, it is usually a 25% chance that one of our kids would have it, which may explain why Sophie and Dylan are just fine. We have to wait about another month til we get the results back. There may be something else or we may never know the cause. I am not sure if the rest of us will be tested at some point either... just have to wait on the lab results.

Sunday night, Tim and I are heading up to Chapel Hill for Natalie’s first ENT appointment on Monday morning. We also meet with the audiologist and have another ABR test done which measures exactly how severe her hearing loss is. We are ready to jump into all of this and get going. The doctor we are seeing is supposed to be one of the best in the country with cochlear implants. You can read about him here. The audiologist we are seeing is the director of the UNC pediatric audiology team (read about here) so we are glad to be in good hands.

(Educational Part)

The picture below is an audiogram and we will get very used to them. The vertical column measures decibels and the horizontal measures frequency or pitches. The 0-35 range is normal hearing. You can see that the bigger the number of decibels the more severe you get. The ABR test does not test greater than 80 because it would be too much for the ears to handle. When Natalie was diagnosed in April, she was at least 80 so on the severe/profound line. We don’t know how profound since they don’t test greater than 80 so she could be borderline on the severe side. When hearing aids are placed, they amplify sound and will bring you up about 40 decibels. On the chart you can see different letters in boxes. This is where normal speech is heard and learned. If hearing aids only could bring her to a 40, she would still not be able to hear language which is why she is a strong candidate for cochlear implants. Some kids born with mild hearing loss would do just fine on hearing aids since it would bring them within a normal range for speech and language. The goal is to get her to a hearing level where she can develop normal speech. 

I saw the most touching thing on youtube where a baby  hears his mothers voice for the first time with cochlear implants. You can watch it here. It made me start wondering, “What are the first words that I want to say to Natalie?” I can’t wait for that day. 

On June 30th, we head back up for a hearing aid fitting and her MRI. She has to be sedated 4-6 hours and her MRI is at 1:30, so I am not looking forward to that (and I doubt she is either.) I am not sure when we will have the MRI results, but the MRI is checking : 1.) Does she have the Cochlear nerves and 2.) The anatomy of the inner ear. We are anxious to see how everything turns out. We will continue to have our speech therapist come out weekly, (although she has the month of July off) but I am learning so much each time she comes.

In the meantime, enjoy some recent pics of our dear, sweet, precious, chunky, loveable and squeezable Miss Natalie Paige, who by the way has started to enjoy sucking her thumb.

COMMENTS:

Grammy

She is looking chunky. And, looking more and more like Dylan!

Thursday, June 10, 2010 - 10:57 PM

Shelley Kay

She really is so beautiful. And I agree with Mom- she's starting to look a bit like Dylan.

Friday, June 11, 2010 - 05:14 AM

Kelli J.

She is just adorable! And I love that she's sucking her thumb. Emily loves her hands and is often found sucking away on them. It is pretty cute.

Friday, June 11, 2010 - 08:18 PM

Amber Bennett

She is so pretty.  I hope all goes well with her.  You are in my prayers!!

Saturday, June 12, 2010 - 03:22 PM

Marianna vB

Awww shes so cute. I'm praying for her. By the way this is Marianna van brederode from carmel ward. I don't know if you are reading this or not but i just wanted you to know that I just made a blog and its called farawayfriendzmario.blogspot.com

Monday, June 14, 2010 - 09:39 PM