And yet another trip to Gainesville (and Orlando, too!)

Last week was very busy. Charlotte had an apppointment last Tuesday with the orthopedic surgeon who fixed her arm on October 1st. He yanked out the two 3 inch steel pins from her elbow. Without out any anesthesia. It was pretty intense, to say the least. She didn't cry when she broke her arm in the first place but more than made up for it at this appointment. Not easy to see your child in so much pain and fear. I assumed that the doctor would at the very least numb the area in some way. Lesson learned was never assume anything and to call ahead to find out what a procedure will entail.

So on Wednesday, we left at 6:00am for Gainesville. Charlotte had an 8:45am dentist appointment and Lily had a 10:45am appointment with the ENT, Dr. Antonelli. We had hoped to hear the results of Lily's sedated ASSR/ABR testing from the week before and for a clue about whether or not she is an implant candidate at this appointment. The results had not yet been recieved (they are on the way in the mail, though, and I found out that the doctor who performed the ABR/ASSR is very meticulous and writes up his own reports following the procedure, rather than delegating to a resident). We did get to see the CT scan images of Lily's inner ears. It was clear, even to my untrained eye, that there is something abnormal about her inner ear.

We asked Dr. Antonelli a few questions regarding genetics. I have done a considerable amount of reading on the genetics of hearing loss (and more specifically, LVAS) and have a decent basic understanding at this point. With the underlying assumption that Lily's hearing loss is due to a recessive genetic cause, I asked Dr. Antonelli if he thought that it would be a good idea to do a CT scan on Charlotte to see if her inner ears are normal (I recently read about a 30 year old woman who had normal hearing her whole life and then begain losing her hearing rather suddenly. It was due to LVAS and she had a deaf brother with LVAS). Dr. Antonelli said it was probably not necessary to do a CT scan on Charlotte but to have her hearing checked yearly. He also then said that Lily's hearing loss is not necessarily genetic- it could be due to an assault on the developing embryo, either by drug or viral pathogen. I think this can be ruled out in my case though, because I was not sick in the critical time period and I took only a single Tylenol during my pregnancy around the 18th week. Here is a rather technical but helpful discussion of prenatal ear development:

the ear starts developing around the sixth week of gestation. The first and second arch give rise to the sixth helix. By the eighth week, the surface epiderm of the first pharyngeal groove starts to grow inward towards the middle ear. This becomes the epithelial layer of the tympanic membrane. By the 12 th week, the helix develops and by the 20 th week you have obtained full adult shape. It is not so later in life when the auricle obtains its full adult size. Moving on to middle ear development, around the sixth week of gestation, the malleolus and incus appear as a single mass. About a week later, the stapes arch appears and by the eighth week we begin to see the joints of the malleal, incudal, and incudostapedial joints . At birth, the ossicles are adult size and shape and only slightly grow postnatally. The mastoid area begins to develop around one year of age. Inner ear development is interesting in that it begins very early. In the third week, the neuroectoderm and ectoderm form the otic vesicle and it is not until the sixth week when the semicircular canals begin to take shape, as seen here, and the cochlea begins to form its basal turn. By the ninth week, the semicircular canals and the utricle are fully formed, the cochlea begins to take its turns, and by the 12 th week, the cochlea has a full 2.5 turns. That was the labyrinthine portion of the inner ear. The vestibular aqueduct and the endolymphatic sac are unique in that the labyrinth obtains its adult shape and size by mid fetal life, but the vestibular aqueduct and the endolymphatic sac undergo changes late in fetal life and undergo changes in the postnatal life up to age three. As you remember, the endolymphatic sac sits in the posterior cranial fossa. The posterior cranial fossa continues to grow postnatally and it tends to draw the vestibular aqueduct and the endolymphatic duct, thus giving it the long, narrowed, and J-shaped appearance. Around the fourth week of gestation, the vestibular aqueduct appears and is at its largest dimension at the fifth week. The vestibular aqueduct around the fifth week of gestation is short, stubby, and wide. Jackler proposed that some insult might occur around the fifth week, causing it to be arrested in development. Going on to further anatomy of the labyrinth; here we see the endolymphatic sac, which comes across attached to the inner ear with the endolymphatic duct. If you notice, the endolymphatic duct is connected to the utricle and saccule as well as the cochlea via the ductus reunion. This comes to important play when we talk about some of the mechanisms of how hearing loss occurs in enlarged vestibular aqueduct syndrome.

It was a bit confusing to have him focus on the fact that there could have been an environmental cause for her hearing loss. Everything that I have read points to recessive genetic causes. I think we will pursue the genetic testing anyway to satisfy our own curiosity. I would think that our extended families would want to know as well, since there is the potential that all of Charlotte and Lily's cousins could be recessive carriers for LVAS as well. It is not that I don't think that Dr. Antonelli knows what he is talking about in regards to the cause of Lily's LVAS and cochlear dysplasia, but I do think that a geneticist would be a better source of information.

I also asked if we should have genetic testing to rule out Pendred Syndrome. He said that when he first started seeing cases of LVAS with cochlear dysplasia, he would have all of his patients tested for Pendred's. He said that none of the tests ever came positive and so he stopped referring his LVAS patients for Pendred Syndrome testing. Once again, I think we will pursue it to satisfy our own curiousity. Pendred's is serious enough that I want to be able to say definitively that Lily does not have it.

That was about all our appointment entailed. We had high expectations that we would get an answer regarding the implant that day. Dr. Antonelli said that the implant team would meet again this month to discuss Lily's case and that we would get a phone call sometime this month. He needs to see the ASSR/ABR results and all other recent testing first. We got a written report in the mail of Lily's appointment with Dr. White from 3 weeks ago when we got home on Friday. Even though I thought she and I agreed that the testing seemed to be inaccurate and that Lily was just placing the puzzle pieces down after waiting a few moments and not necessarily when she heard sounds, it appears that Dr. White wrote up the testing session as though it was valid. I didn't even read the whole thing because it frustrated me so much. I need to reread it in a different frame of mind.

I can't end this post without mentioning that when we left Dr. Antonelli's office, we continued on to Orlando. We spent 2 nights at a resort at Disney World. It was just what we needed after all the crazy stuff we have had going on. We had a really great time. Lily and Charlotte had lots of fun at the Magic Kingdom and we are already planning our next trip......