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