Genetic Testing

4 months old....a few weeks ago...

We decided to do genetic testing for Everly to see if we could determine the cause of her hearing loss.  Genetic testing is expensive and has it’s limitations however we felt that any information we could gather would be worthwhile. 

We learned that Everly has two mutations in the Connexin 26 protein.  This protein plays an important role in the functioning part of the ear called the cochlear. Since she has two mutations, this means both Matt and I are carriers of this recessive gene.  She was lucky enough to get both of these recessive genes and thus be born deaf.

Since Matt and I are both carriers of this specific mutation, each of our children have a 25% chance of having hearing loss.  Luckily, Brooks was not in that 25% and has fantastic hearing. (Although he made it into the 4% chance of having a cleft…) Everly is obviously a carrier of this gene and Brooks has a 50% chance of being a carrier or not. 

This was the best news that we could have received.  This mutation is strictly related to hearing loss and no other syndromes.  So we can rule out the hundreds of others syndromes that could have been related to her hearing loss. We had several other diagnostic tests scheduled, such as an eye exam, renal ultrasound and EKG, that we don’t’ have to do now. This is a relief.

We learned that this mutation is very common. In fact, most babies with hearing loss are born to parents who can hear.  About 40% of newborns with genetic hearing loss not related to other syndromes have a mutation similar to Everly’s condition. 

Getting sun ready in the Dminican Republic. Already a well traveled lady.

Everly enjoyed several pumpkin patch outings this October

Happy girl!

Other than that news, we are plugging away with therapy three times a week and keeping up with her hearing aids.  She just got fitted for her fourth set of ear molds. We get new ones about once a month because she growing so fast! These ones have gold sparkles…perfect for the holidays!

I know I don’t write often but thanks for following anyway!

Love,

Elizabeth

Additional information:

“Congenital” hearing loss means that a person was born with the hearing loss. (Everly’s type)

“Acquired” hearing loss means that a person could hear when he or she was born, but developed hearing loss later in life. 

A Busy Reality

 Such a big girl sitting in the bumbo

Before Everly was born, I was so worried about splitting my time with two kids. I was concerned that my bonding time with Brooks was going to significantly decrease…what was he going to do without me there all the time?? I realize now that I was more attached to him than he was to me. But I do think new parents of two or more kids have similar anxieties that I did (and still have). Two kids are much more work than one.  I try my best to balance their needs and spend an equal amount of quality time with each of them, but I often end up feeling that neither they nor I get enough.

It's so hard to get a photo of the kids together. Here they were confined to the stroller.

Everly needs so much attention and time from me right now and I feel like that comes at the expense of my one on one time with Brooks. I know this is temporary for the next few years; however, it often makes me sad. It seems silly as I write it down, but the reality is that it weighs heavy on my heart.  That being said, I’m so thankful for all the help I receive everyday from my husband, grandparents and our Lisa. When Everly and I are at the doctor’s or therapy or driving to and from an appointment, I just can’t be there for Brooks. When someone invents the ability to be in two places at once, I will be the first in line :)

Everly is hitting all of her milestones as an almost 4 month old. Her neck is strong, she rolls over sometimes, grabs for anything at arms length and brings it to her mouth and smiles and laughs. In fact, the first time she really belly laughed was in the exam room waiting to see the Otolaryngologist.  It made me wonder how many milestones or firsts she will do while in a doctor’s office. Ha!

Everly wears her hearing aids most of the day except when she’s sleeping or nursing.  We have not noticed any significant changes when she wears the aids. For example, she doesn’t startle when Cooper barks or even if you bang a loud drum right above her head. Although we don’t know if she’s hearing anything, the hearing aids are stimulating the nerve which is a good thing. It’s like giving that muscle a workout. Evvie is so visual; she connects and responds with people so well when she’s talked to, it’s easy to forget that she can’t hear you.

 Hanging out with Papa and Grandma in the Dominican Republic. She's already a well traveled lady.

 Mommy with Evvie drinking a beer in the Dominican while Daddy and Brooks swim with dolphins. 

Playing with daddy

Already teething!

Had to give blood for some genetic testing. That was not fun for Everly or Mommy!

Thanks for checking in on Everly!

XOXO, 

Elizabeth 

It takes a village

They say it takes a village to raise a child. Well, Everly has her own special village already! 

Ever since we learned of Everly's diagnosis, we have been searching for the best doctors and therapists to help us through this journey. With the help of family and friends, we have landed with a wonderful team of doctors so far. The Otolaryngologist, Audiologist and other therapists at USC's Childhood Communication Center, Keck School of Medicine, are some of the best in the world. We are so fortunate to live where we do and to have access to this type of quality care. Our visits to USC are every two weeks now and will increase as she gets older and more responsive. 

In addition to the USC team, there is a team of therapists through the Newport Mesa Unified School District that have already started working with Everly. This program is called the Early Start Program and is a state funded program and free for us. The Special Education Deaf and Hard of Hearing Specialist and the Speech and Language Pathologist come to our house once a week for therapy sessions with us. This program is truly amazing. They will follow Everly's progress and help us as she enters the school system.

Three months old today!

 Cutest little bathing suit!

Evvie loved the pool!

Everly is only 3 months old today and already needing extra attention.  But I'm sure happy to give it to her! 

Love, 
Elizabeth 

Hearing Aids

When I first learned about Everly's condition, I was so angry.  I thought "this isn't fair!" But after some grieving and much support by family and friends, I have now accepted Everly's hearing loss and I feel lucky that Everly came to us because I know we will give her everything she needs and more. And things could be a lot worse! 

We are learning more about hearing loss each day.  And at this point, Matt and I feel that the best case scenario would be for Evvie to receive Cochlear implants. We will not know for sure if she's a candidate until we do further testing (genetic testing, ct scan, MRI, etc) over the next several months. The cochlear implant technology is amazing and with it, she would hopefully be able to hear and speak somewhat normally, giving her the opportunity to grow up with her hearing peers.  There will be lots of work ahead for us! 

As a first step, Everly received her first set of hearing aids at 8 weeks old. Since Everly has profound hearing loss in both ears, we do not know how much she will hear, if anything.  However, the theory is to try to stimulate the brain with any noise possible as well as get her used to having things around her ears.  The Audiologist will monitor the hearing aids and we will be constantly adjusting the frequencies based on any reactions we see.  

Thanks for following along!

XOXO,

Elizabeth

Additional information:

• Approximately 3 in 1,000 babies are born with permanent hearing loss
• Hearing loss affects 12,000 children born in the US each year, making it the most common birth defect

Meeting Everly

Everly Jo arrived on June 17th, 2014 via a planned c-section.  Everything went according to plan and we were surprised the see her full head of dark hair!

During her second day of life, Everly didn't pass the newborn hearing screening test in the hospital.  The pediatrician was not concerned because many c-section babies do not pass the first time due to having fluid in their ears. The next week, we repeated the newborn hearing test and she did not pass again.  Therefore, we scheduled an Auditory Brainstem Response (ABR) test.  After completing this two hour test, the audiologist informed me the Everly has profound sensorineural hearing loss in both ears.  I was shocked to say the least...

So please follow along to 'hear' Everly's story. I will try to write updates when we learn new and interesting things as well as when Everly accomplishes all that she will!

Thanks to our amazing support system of family and friends! We love you all.

XOXO,
Elizabeth


Additional info:

• Sensorineural hearing loss occurs when these is a problem in the way the inner ear works and is permanent.
• Degrees of hearing loss go from normal, mild, moderate, severe and then profound.