Head, Shoulders, Knees & Toes (Really... Ears, Throat, Heart & Head)

Audiology
In late July, Gracie had a very long, thorough audiological evaluation... again. With our move late last year, this new group is her sixth audiology group to try and get to the bottom of her hearing loss and the best way to aid her.

At our first visit in April, they did a booth test.
The report reads, "The results indicated a profound hearing loss, bilaterally."

Four sedated ABR tests over Gracie's lifetime show "a profound sensorineural hearing loss, bilaterally."

However, booth tests and social hearing behaviors up until late 2005 showed (sporadic) moderate hearing loss in the right ear and a severe-profound hearing loss in the left ear.
Additionally, we still notice sporadic "hearing behaviors" where Gracie will turn to sound that we know she's hearing - - not feeling. The interesting thing is that these are both high and low tones... which doesn't make much sense given her ABR results over her lifetime.

When we went to the CHARGE Syndrome Conference in 2005, we learned about Auditory Neuropathy and we were convinced at the time that Gracie had this. With Auditory Neuropathy (AN), a patient might have hearing, but sounds is like an out of tune AM station. There are tests that can be done to diagnose this, but Gracie never was a clear-cut case (she's not "clear cut" on anything!) so we never got a confirmed diagnosis... only "suspicions" of AN.

She has, as is often very typical of kids with CHARGE, "a history of chronic middle ear pathology." This is, I am thoroughly convinced, due to the fact that her ears are so "wide open" that her saliva drains out her ears when she has tubes. Her left ear is much worse... it literally pours out on her "junkier" days.

So, back to the appointment in July. This time... a non-sedated ABR was done to rule out and/or confirm Auditory Neuropathy/Dys-Synchrony. "Today's results indicate a profound hearing loss, possibly mixed, bilaterally, with concerns about Auditory Neuropathy in the left ear." So, again, not definitive, but AN pops up again and this time it's actually documented.

In a nutshell, Gracie is profoundly deaf... and even if she weren't, her left ear would cause great difficulty in discerning the sounds due to the AN. And now we are left (yet again) with the big issue of how to aid her... whether she can be aided... whether she'd benefit from a cochlear implant. This is not the first time we've discussed an implant. It's also not the first time that we've struggled with whether it's the right decision. While so many are "pro" implant, I continue struggling with the idea.

Over the years, with certain audiology groups (not our current), it has often felt a bit like, "they have great insurance, what's the harm in giving it a shot?" situation. While I know this isn't entirely true, I also know that there are so many things pointing to the "not implanting" column that no one can really refute. They can only say that there is "a possibility she could, with intensive training, access sound." The "possibility" is what makes me sleepless, stressed and ties my stomach in knots.

Gracie isn't (and has never been) a true aid wearer. She can't wear her BTEs (Behind The Ear aids) because of constant fluid in (or draining out of) her ears. She wears a BC (Bone Conduction Aid) during structured activities while sitting, but will NOT wear it any other time. In theory, a bone conduction aid shouldn't really be helping her (as her loss is primarily sensorineural, not conductive). She doesn't seem to mind the BC aid in those structured activities, but I have always questioned whether she just enjoys the vibro-tactile input rather than gaining any sense of sound from the aid. The fact that she doesn't seem to benefit from the BTEs when she can wear them (which is almost never) is a huge issue. We don't know if she'd even benefit from those aids because she constantly has a fluid problems. What would lead anyone to believe that a child who isn't an aid wearer would be a candidate for an implant? Furthermore, do we believe that Gracie can be trained/taught to use the implant even if it worked...? It's not a matter of just turning it on and "voila!" It's an intensive, complicated process. Does she have the processing skills and cognitive skills to use it? We know she's a smart little cookie, but we also realize how delayed she is and how affected she is by her language processing issues.

Another concern is her facial palsy. Gracie's cranial nerve involvement is so complex... she's "classic" CHARGE... no swallow at all, right-side facial palsy, all inner ear issues, no true blink on either side, her nerves are so small/narrow in some areas that they can't actually confirm presence or completion on a CT. Thus, "opening her up" for a look-see isn't all that appealing to us. Then there is the risk of damaging the good facial nerve on her left side - - a risk that is so frightening to me... she'd have bilateral palsy and lose all facial expression.

As I consider everything, it feels like moving forward with the surgery would be doing something to Gracie rather than something for her.
But, there is still the big, yet very unlikely, "What if it works?" that won't let me be...

Vital Stim
For years, we've tried to get Gracie cleared for Vital Stim. This is a swallow rehabilitation therapy using electric stimulation. Previously, the pacemaker company and her cardiologist weren't comfortable with her receiving the therapy as there wasn't much data. And even if we'd gotten their approval, there weren't any Speech Pathologists in our area who were certified or willing to become certified. They all stated that there wasn't enough data regarding the use of Vital Stim in pediatrics.

When Gracie had her latest swallow study done in the spring, I mentioned the therapy to the speech pathologist who informed me that many of the SP's at CHOC (Children's Hospital Orange County) were certified in administering Vital Stim. She also mentioned that she was fairly certain there were other patients with pacemakers. So, my phone calls started and... now... after nearly four years of hoping and trying... Gracie is approved by the pacemaker company, her cardiologist and our insurance for Vital Stim! She was put on the waiting list and now has her first session next Tuesday.

We are cautiously optimistic (because we like believing there is a miracle left for her swallow), but are also realistic. Vital Stim has not had a great track record for kids with CHARGE Syndrome. There are some successes out there, but most of those kids have a lesser cranial nerve involvement than Gracie.

This is (as of today's technology and medicine) our last remaining effort to work on her swallow. We have tried everything... even Botox into her salivary glands... without success.
Our goal is for her to be able to better manage her secretions... and swallow them enough to avoid aspirating. A great success would be if she'd have enough ability to swallow that she'd tolerate a PMV (Passy Muir Valve - a speaking valve worn over the trach). As of right now, she's not able to wear one due to the "bubble bath" of secretions that sits in the back of her throat and blocks the ability to visualize her vocal cords in a nasal endoscopy. An even greater success with Vital Stim would be that she'd have a chance at decannulation (getting her trach out).

Cardiology
She had a routine check-up and a pacemaker interrogation. Turns out Gracie is using up her battery life on the new generator much faster than initially anticipated. The battery life is estimated at 3.5 years... less than half of what we'd expected. She is completely pacer dependent and this, coupled with the additional work her heart does because of her mitral valve regurgitation, is causing her to use up the battery quickly. She will eventually have to have an artificial valve placed, but we are hoping to do that once she's older and bigger, thus minimizing the need for multiple valve replacements as she grows. She will be on Coumadin (a blood thinner) and require monthly labs once this surgery occurs. Our hope now will be that we can replace her generator and the leads at the same time, rather than having to have an additional surgery a year later to replace the leads.

We go back for another echo in November to check the mitral valve regurgitation. The hope is that it remains stable and her heart doesn't look enlarged from the extra work it does despite the pacemaker.

Neurology
Gracie had an appointment with her new neurologist a couple of weeks ago. Yes - - another new one because the one we saw when we moved here has left the practice. Thankfully, I really like the new one, so it all worked out fine. Unfortunately, though, the appointment was incorrectly scheduled as a return-patient (only 15 minutes instead of 45 - - and my opinion, when it comes to our "complicated" kids, 15 minutes isn't sufficient for a return-patient anyway), so we have to go back again to give the doctor time to get to know Gracie and her history better. I was just grateful that he wanted to take that time.

Good news: He wrote the prescriptions for her new wheelchair and walker :-)
Yay for mobility and independence!

Next medical update just around the corner, will include: Dentist, Vital Stim, GI, Pulmonology, Behavioral Pediatician... it never, ever ends!