Lily's Language Progess

I have been meaning to write about Lily's progress for a while now. We had such a non-stop period of appointments that talking about Lily and how she is actually doing had to be put on the back burner. Lily has been in Auditory-Verbal therapy now for a little over 2 months. She is saying "me", "my", "you", "your", "I"- she has a good grasp of pronouns now. She is doing better with 2 step directions than she was initially. When we first started asking 2 step directions, like "Pick up the doll and give it to me", she would pick up the first thing she saw and it was hit or miss if she would actually give you anything. I guess this showed she was not used to really listening to what was being asked of her. She has pretty much mastered "in", "on" and "under" and on her own is demonstrating understanding of "behind". This is a good sign because it is exhausting to imagine working this hard with her on each and every abstract concept that there is in the English language. The stuff we are working on with her is the stuff that you take for granted when children acquire language naturally without any impairment. It is incredible when I think now how effortless it was for Charlotte to learn to speak. Children absorb language, from the time they are tiny, just from overhearing it. This is why hearing aids cannot be compared to eyeglasses- just because the sound is suddenly amplified does not mean that fixes the problem. There is a tremendous amount of work to be done to catch up hearing impaired kids on all that they miss from overhearing everyday conversation. We are now working on plural "s". I don't know how she is going to get this one and I think it is going to take a lot of work to get her to differentiate between "the dog" and "the dogs" when she can't even hear that final sound.


Lily's speech is somewhat clearer than it was before but you have to spend time with Lily to understand her most of the time. Here is something that you might hear her say: "Cah-leh wan wah moo-bem". Translated this means "Charlotte wants to watch a movie". So it looks like we will have to do speech therapy at some point to work on articulation with her. I think that the focus for now is to get her to expand her vocabulary as much as possible now and that cleaning up her speech will come later.

Lily's behavior is more and more trying as she gets older. She does not like to "perform" the required tasks during her therapy sessions and is getting bolder and wilder as each week passes when Janet and her student are here. Lily was very quiet and withdrawn for the first therapy sessions and fairly cooperative (as she often is in new situations with new people). And by withdrawn, I mean she buried her face into me and would have melted into my body if she could. But then, as her comfort level increased, she began to act like she does normally at home, as Chris says, like a feral child. What is difficult to do is to differentiate her behavior from her hearing loss. Would she act like she does even if she could hear or is her wild, inexplicable at times behavior soley due to her hearing loss? I can only draw on my experience with Charlotte when I try to understand Lily. Charlotte was not an easy baby/toddler by any means but I was able to figure out what she needed to be calm and comfortable and satisfied. That is something I have struggled with since Lily was a newborn- how to figure out what she needs in order for her to maintain emotional equilibrium. There seems to be something out of sync about Lily and I am searching for answers about that now too. Sensory integration dysfunction, while a controversial theory, is something I guess I have to explore at this point. It is not uncommon among children with hearing loss. Now the question is how to I pursue dealing with it....

Here is a description of kids with SID, many things sound just like Lily:

If they are oversensitive to touch sensations (tactile defensiveness), they will avoid touching and being touched and will shy away from messy play, physical contact with others, pets, certain textures of fabric, many foods, bumpy sock seams, etc. On the other hand, if they are under-responsive to touch sensations, they'll crave touching and being touched. These children will be fingerpainting their arms, stuffing their mouths with too much food, shouting indoors, turning up the volume and bumping and crashing into people and furniture.

If children are oversensitive or defensive to movement experiences, their feet will never leave the ground. They will shun playground equipment and object to riding in the car or elevator. They may refuse to be picked up. Or, if they are under-responsive, they may crave intense movement, and seem always to be in upside-down positions, swinging on the tire swing for long periods, and on-the-go constantly -- jumping, bouncing, rocking and swaying.

This will be my next focus after we find out what Lily's implant status will be...

-K

If they say no.....

Still obsessing about the implant team's answer. Will they implant her now or will they make us wait until she loses further hearing? I have been researching other clinics to find out what determines candidacy. UF's policy clearly states a child must have a severe-profound loss in *both* ears. Lily's hearing is just slightly better than that. I found that the Listening Center at Johns Hopkins in Baltimore states this about implant candidacy, which seems less conservative and more flexible than many clinics:

Candidacy

Children and adults with an advanced level of sensorineural hearing loss in both ears may benefit from a cochlear implant. A cochlear implant may be considered for someone with a hearing loss that is severe enough to limit speech understanding, even with well-fit hearing aids. The inability to hear more than one half of amplified words provides a guide that helps define candidacy.

I am finding that geography plays a large role in how progressive implant centers can be. It looks like the implant centers to the east and to the west are more liberal than down here. I am not sure what that means for us yet and what it would take to get this done as soon as possible but I plan to start researching this now in case we have to switch gears very soon.....

-K

Assorted stuff...

I found this link, http://www.sens.com/helps/helps_intro.htm , which has some demos of what it is like for a person with hearing loss. Demo 1 is a severity of hearing loss simulator. Lily's hearing in her "good" ear is the one labeled "HL5". No wonder Lily doesn't seem to care about music very much. Demo 5 has a cochlear implant simultation.

I discovered that there is a doctor in Jacksonville that does cochlear implants at a children's hospital and is not affiliated with UF. This doctor implants the brand "Advanced Bionics" (AB) implants. AB has focused on making music more enjoyable for implantees and has something called a 120 Virtual Channel external processor coming out in the spring. There are currently 16 to 24 electrodes that are implanted internally, depending on the cochlear implant company, but the AB technology works with the outer processor to create more realistic sound somehow. I think. I don't know much about the differences between the three companies, but I guess I will have to do some research. I did find this chart comparing the three implants, but it is slightly outdated and does not include the new AB Harmony. I am not sure if the doctor in Jax would even be an option for us though, considering Lily's abnormal inner ears. Dr. Antonelli is the one that doctors around the state refer their toughest cases to. This wait to hear if they will implant Lily is hard and we don't know the date of their team meeting. I just hope to hear by the end of the month.

I have joined a Yahoo group for LVAS and have learned quite a bit about Lily's condition there. A medical doctor with LVAS himself moderates the group and quickly answers questions and clears up misinformation. There was a recent discussion about Pendred's Syndrome and genetics and progressive hearing loss after these links were posted by someone from the National Institute of Health:

Enlarged Vestibular Aqueducts and Childhood Hearing Loss

http://www.nidcd.nih.gov/health/hearing/eva.asp



More About Childhood Hearing Loss and EVA

http://www.nidcd.nih.gov/health/hearing/eva-intro.htm



Genetics of Enlarged Vestibular Aqueducts (EVA)

http://www.nidcd.nih.gov/health/hearing/genetics.asp



Pendred Syndrome

http://www.nidcd.nih.gov/health/hearing/pendred.asp



NIDCD Research on EVA and Hearing Loss

http://www.nidcd.nih.gov/health/hearing/research.asp

A pretty interesting discussion followed. One person pointed out that the first article says that Pendred's Syndrome likely causes the progressive loss, but made no mention of enlarged vestibular aqueducts/non-Pendred's causing progressive hearing losses. Several people replied saying that their children do not have Pendred's but have had progressive losses so the article must be inaccurate. One mother replied with this, which has made a lot of sense to me out of some overwhelming information:

I've excerpted some passages below from the following genetic encyclopedia. One point this article makes is that there are many, many different possible mutations in the PDS gene most likely causing a RANGE of symptoms that include LVAS. We're all dying to know whether our kids fall into the genetic definition of Pendred Syndrome when the definition of Pendred Syndrome is really a symptomatic one. There were a set of symptoms, someone gave them a name, and medicine looked at the genetics later as the science advanced. The genetics showed that this range of disorders was a little more complicated than that particular set of symptoms.

http://health.enotes.com/genetic-disorders-encyclopedia/pendred-syndrome

"As of March 2001, genetic researchers identified at least 47 different types of alterations in the PDS gene among different families. However, four of these are more common than the others, and it is estimated that approximately 75% of affected people have these common changes.

" ... it is believed that changes in the pendrin gene actually cause a number of overlapping conditions. These conditions range from Pendred syndrome (i.e. sensorineural hearing loss [SNHL] and thyroid changes) to SNHL with EVA.

"Changes in the PDS gene have been found in people who have SNHL and EVA, even though they do not have thyroid changes that would have helped make a clear diagnosis of Pendred syndrome in the past. Thus, future genetic studies on large groups of individuals with SNHL will help researchers understand how common Pendred syndrome truly is, as well as the range of symptoms that are caused by changes in the PDS gene."

So that is it for the assortment of thoughts for now. I plan to get on here this weekend and talk about Lily's progress.

Let the waiting begin...

With the completetion of Lily's sound booth testing last week and the receipt of the sedated testing results, all that is left now is waiting to hear news from the latest implant team meeting. I emailed Dr. Antonelli to ask him something I forgot to ask when we saw him last- what does Lily's cochlea look like, or rather, how many turns is she missing? A normal cochlea has 2.5 turns. Dr. Antonelli responded that Lily has between 1.5 and 2 turns in each cochlea, which is considered a mild deformity. I would be surprised if we hear something this next week since Thanksgiving is coming up, but I got the impression from him that we would hear something by the end of the month. I have been corresponding with a mom in New York who has a 2 year old son with Lily's exact level of loss and he was implanted in his severe-profound ear this past August. I am going to have to find out how she made this happen if UF turns us down. We have talked about going to Atlanta to try another implant center if UF says we need to wait until Lily loses more hearing in her left ear first. That would be rough since Atlanta is about 4-5 hours away, depending on how heavy your foot is. I would hope that they wouldn't want to do all of their own testing. It would be discouraging to have to start this process all over again. Hopefully, that won't even need to be a consideration.

I am going to try to get a chance to write about Lily's progress with AV therapy at some point this week. She really has made some remarkable progress since this summer. Right now, though, I need to be straightening up for tomorrow's therapy session here at home, bright and early at 9:00am!

-K

ASSR/ABR Results Arrived

We received the results of Lily's November 1st ABR/ASSR in the mail today (or rather, yesterday, as it is now 1:00am on Friday). The report reads that Lily has a moderate-severe to profound sloping loss in her left ear and a severe-profound loss in her right. Pretty much what we already knew, although I had not realized that her left ear sloped into the range of profound. I never trusted the original audiogram done back in June by Lily's former audiologist (she was the one who missed her chance to tell us how potentially serious Lily's hearing loss was when she was 9 weeks old). I am sure there was some magical thinking on my part that this has all been just a big mistake and that really she is OK. But the ABR/ASSR is performed by a computer and is just about as objective a test as you can get for a small child and it clearly shows Lily is deaf. The projected audiogram from the ABR/ASSR is almost identical to the one Lily had in the soundbooth in June. I also had Lily's current and really wonderful audiologist test her left ear without her hearing aid this past Tuesday. (I also talked about the report written by Dr. White about Lily's testing at UF with Lily's audiologist. I understand it better now since it has been explained and am no longer worried about it.) Once again, there was an almost exact replica of that first audiogram. So now we have 3 different tests saying the same thing and at least there is no room for questioning what is her level of loss. Now we have to wait until we hear from the cochlear implant team. It is up to them to decide if Lily's residual hearing in her left ear is enough for her to get by in life. I don't think it is.

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......

Kicking and screaming

So last week was pretty eventful. Lily and I drove down to Gainesville alone on Halloween evening while Chris and Charlotte stayed in Tallahassee. Her ASSR/ABR was scheduled for the following morning. It was the first time that I had ever spent a night away from Charlotte since she was born. It was a rough trip to do on my own but it would have been hard whether everyone came with me or not. Lily and I spent the night at a hotel. She slept all night without waking even once, thankfully, because she was not to eat or drink after midnight. I didn't sleep the entire night- I worried what I would do when she woke up and how I would explain to her that she couldn't have anything in her stomach. Lily becomes violently angry in her sleep when she is the least bit awakened by anything and I was afraid of how loud and furious her reaction to being away from home and being told she couldn't have a drink would be if she were to wake. The other thing I was worried about- how was she going to react to the anesthesia when she awoke from the procedure the next day.

Lily and I headed out of the hotel room at a very dark 5:30am. I had only a basic idea as to where I needed to go (and no map- duh) and I got so lost on the way to the hospital. There were some police officers hanging out in an alley way on the main bar strip near UF's campus and I flagged one over to get some help. It turns out I was only about a mile and half away from AGH Shands Hospital. I had been driving aimlessly in the dark and somehow managed to get near the hospital. We walked in at 5:55am and signed in. By 6:30, Lily and I were sitting in a surgery pre-op area. We were assigned a tiny space with room for a hospital bed and a chair and no more than that. We would sit in that tiny space for two more hours while waiting for everything to fall into place. There were 11 other tiny spaces like that one, all filled with other children awaiting various procedures.

We had a really nice nurse assigned to us. She was very sweet to us. She was also a mother so she understood my tremendous anxiety about what was going to happen that morning. It was a long time to sit there and I had lots of time to think about what I was about to do to my child. Lily would be going under general anesthesia, with all the risks that entails (and not to mention emotional upset for the both of us), for a completely voluntary procedure. I certainly thought about just skipping the whole thing. But we needed clear answers about her hearing loss that were just not going to be obtained in the sound booth and I decided that we had come too far not to follow through with the procedure. I talked with the nurse about what it would be like when it was time for Lily to go in. She said depending on who was in charge that morning (meaning whoever was the head operating room nurse) would determine how things would go. She said that sometimes the head O.R. nurse will let parents put on scrubs over their clothing, take their drugged-up-on-Versed child into the O.R., place their child on the bed, and allow them to stay until their child is completely asleep.

I was counting on this being the scenario but when it came down to it, the head O.R. nurse on duty that morning was not the child-friendly type nor was he the least bit flexible. After Lily had Versed squirted into her nostril, which left her shrieking, kicking, and screaming in shock and utter despair for 5 minutes, I had to hand off my little girl to a stranger while he took her to a room I never got to see. She was goony-drugged up at that point and was no longer crying (she was leaning her head back and forth and looking at me with drunken eyes saying, "Whoa, Mama" by then). I walked as far as he would let me with her in my arms, tears streaming down my face, and I told her that I needed to go to the bathroom and I handed her away, as she looked back at me with a scared and puzzled look on her face,her arms reaching for me. It was a terrible feeling and I felt like I had betrayed her. I felt like I had not been strong enough and had not insisted enough that I be with Lily until she was asleep. I had tried my best and even tried reasoning with him that this was not surgery, there was not the worry about everything being sterile like there would be with a surgical procedure, this was just a simple hearing test. He had his rigid rules and he was not going to bend them for me. He said that she would not remember it anyway, I said she would bury it in her subconcious and that it was a matter of her trusting me to keep her safe at all times. He said that I must be the one suffering from separation anxiety. As you can see, we were fast friends.

I sat in a surgery waiting room for 2 hours trying to distract myself from worry. I had been under the mistaken impression that this would be a brief procedure, maybe 15 minutes per ear tops. I tried to watch the Ellen Degeneres show and the Megan Mullaly show to distract myself but the TV was muted so I could only guess what they were talking about. There was a mullet-sporting dude with a particulary vulger and absurdly funny t-shirt on there in the waiting room who provided a bit of needed amusement (I think Chris would be horrified if I typed out what was on the shirt so use your imagination :P).

At around 10:30, the pre-op nurse who had been so kind to us came rushing in to the room and sat next to me. I was terrified that something had gone wrong. It turns out that they woke Lily up before they came to get me (something I told them would be a big mistake) and she was completely out-of-control. I rushed back to the post-op area with the nurse to find Lily violently kicking, screaming, crying hysterically, thrashing, pulling at the IV in her arm, and just generally going crazy in the arms of another nurse. She was almost beyond reason and it took me 15 minutes to get her calmed down. I knew it would be bad when she was awakened from the anesthesia but not that bad. It was about an hour before they would give us the green light to go home. Lily guzzled a large milkshake on the way home and she stayed awake for the entire 2.5 hour ride home. She and I went to bed at 5:00pm that night and slept all night through to the next morning.

So that is all in the past and we now have an exciting appointment to look forward to on Wednesday. I don't know for sure but am pretty postive we will know one way or the other if Lily will be getting a cochlear implant soon. This is a big week for us- Charlotte gets the pins removed from her arm on Tuesday, we see Dr. Antonelli on Wednesday, and then we are off to Disney for a couple of days. We really need a little fun trip after the rough couple of months we have had.

-Kriste

Here is a cochlear implant propoganda-ish story about a family with 2 kids with Lily's condition, LVAS.

Here is an article supporting bimodal-binaural hearing and I plan to give to the ENT tomorrow.