Thursday, April 21, 2011

IEP, Milestones and Moments

It's been on my to do list for about two months now to write another blog post...  sometimes the busier we are, the more there is to write about, but the less time there is to do the writing.

Taylor continues to progress very well.  Just in the past week, she ordered her own Sprite when we were at a restaurant.  My phone was in my purse between the two of us at the restaurant.  When it rang, she heard it first and said "Mommy's phone."  We had a mapping recently and she was able to detect sound down to 5 dB.  It was a sound I barely was able to detect.  Absolutely amazing!

So that brings me to the current challenge - Taylor is six weeks away from turning 3, so we are going through the IEP process with the local school district.  Derek has gone to a local church preschool for the past year.  He is currently 4, so still has one more year of preschool.  We considered sending her to the preschool that he has been attending.  Our local school district has a preschool for special needs children that starts at age 3.  We observed those two classrooms and tried to get a feel for what it was like and how they compare.  We feel that the school district's preschool is going to be the best place for Taylor.  There is a special ed teacher plus multiple para's, which gets the adult to student ratio down to 1:4.  In the church preschool, there is one teacher for 12 students.  The school's program allows us access to the speech pathologist, audiologist, deaf educator, and it is also in the same building and on the same schedule as the class that Derek can attend.  

But what do we put on the IEP?  She hears within normal levels... even in restaurants or other loud settings, we see her respond to sounds at least as well as we do (if not better).  So she's technically deaf, but hears very well and doesn't need to read lips or have an FM system.  Her language comprehension is on track and age-appropriate.  Her expressive language is age-appropriate as well, and her articulation continues to improve.  Any advice from other parents would be great!

Tonight, she said to me "I'm ready to go watch a movie."  All of those words!  What a sentence.  We've been trying to encourage her to get the "little" words in there, such as to, a, on, the, etc.  We have been working with her on past tense and prepositions.  She gets it, but unfortunately she has to speak the English language, which means the rules don't always apply.  For example, she said "I find-ed it!"  I'm excited that she made it past tense, but now have to correct her with "You found it!"  :)  

We have taken a couple family trips since the last blog post.  On our ski trip, we tried to get Taylor to ski, and asked her if she wanted to be a "ski bunny".  She replied that she wanted to see the bunny ski.  Silly us!  She wears a dress or skirt almost every day -- we had to force her to wear sweats or jeans there.    Derek is usually a little more reserved than Taylor, but we were able to get him on the slopes all 3 days.  What a good sport!

We went to Orlando last week for our early summer vacation, since we have baby #3 on the way.  Taylor swam like a fish, but got a little too comfortable having her ears off.  She can now tell us whatever she needs to -- like "I want a drink"... "not that drink"...  "apple juice"... and "I need a towel!"  Why would she need to hear us say things like "don't jump in from there!" and "it's time to come inside"?  We sign minimally and I used it as much as I could for the times that she was in the pool.  It made me wish I knew more signing, but I was also impressed that she could read my lips (and expressions) quite well.  It felt a little like charades at times.  We are a family that likes to swim and boat a lot.  I realize that I am going to have to improve our family's signing in order to make those times a little more enjoyable (for the parents...  I think Taylor loved not having to listen to us for a while!)

Magic Kingdom carousel

Magic Kingdom

Downtown Disney 

Tuesday, February 8, 2011

Genetics of Deafness

Taylor has Connexin 26.  This means that Jon and I are recessive carriers of Connexin 26.  What is Connexin 26?

Connexin 26 (Cx26) is a protein found on the (GJB2) gene and is the most common cause of congenital sensorineural hearing loss. Connexin 26 mutations are responsible for at least 20% of all genetic hearing loss and 10% of all childhood hearing loss. In some ethnic populations, more than 80 percent of cases of nonsyndromic recessive deafness result from a mutated Connexin 26 gene. Children born with bilateral (both ears) severe to profound sensorineural hearing losses are typically referred for genetic testing for Connexin 26 mutations.

Connexin 26 mutations are genetically transmitted from parent to child in a recessive manner, which means that an affected individual must inherit one copy of the non-functioning gene from each parent. Carriers who only have one copy of the gene (i.e. one normal gene and one mutated gene) do not manifest any of the signs of the condition, but have a 1 in 2 chance of passing on the defective gene to their children (who would then also be carriers only), and a 1 in 4 chance of having an affected child if the other parent is also a carrier. This explains how Derek can hear perfectly, as Jon and I do.

Connexin 26 mutations are non-syndromic, meaning that the mutation produces only isolated hearing loss. There is NO increased risk for other medical problems that are commonly associated with hearing loss such as blindness, thyroid problems, kidney problems, or balance disorders. However, there is in a minority of cases a higher incidence of skin disorders in patients with a Connexin 26 mutation.

This is the Best Part of knowing it's Connexin 26!  No associated issues with the deafness!

Connexin 26 mutations produce a pre-lingual hearing loss, because it affects the child before they are old enough to develop speech.

Why do we need Connexin 26 to hear?

The GJB2 gene contains the instructions for manufacturing a number of proteins, including Connexin 26. Connexin proteins in general are called “gap-junction proteins” which are necessary for cells to communicate with each other. Without sufficient levels of Connexin 26, the potassium flow from hair cells in the cochlea is disrupted, resulting in extremely high levels of potassium in the Corti s organ, leading to the profound sensorineural hearing loss. Connexin 26 mutations occur primarily in Caucasians, Ashkenazi Jews, and some Asian populations.

This seems like old news, since we found out about this with Taylor within a month or so of finding out she was deaf.  Now, we have another baby on the way and the worry starts anew in that this time we know there's a 25% chance.  Thankfully, we know what to do and how to find out this time...

I pulled this information from the California Ear Institute website.  Harvard's Genetics of Deafness center has a great pamphlet of information that we found to be helpful when we confirmed the Connexin 26.