Neurology News

Today, Cara had an appointment with her neurologist. We made the appointment out of concern for her lack of speech, wanting to get another opinion to make sure we weren't missing something.

First off, I voiced my concerns about Cara's lack of progress in verbal communication and mentioned how she was capable of learning new signs.

Then, we talked about how she did verbally communicate (open vowel sounds) and what was being done in her therapy sessions. Her neurologist agreed that there didn't seem to be much progress in the 8 months that Cara has been receiving speech therapy.

Next, Cara was undressed as the neurologist looked over her body. I wasn't exactly sure what she was looking for beyond signs of hypotonia (which we know she has). Then, she pointed out some spots that Cara had on her skin.

Honestly, I never game them much attention, as I just thought that they were normal on bi-racial children. It turns out though, that they are called cafe-au-lait spots and can be an indicator of several things, one of which being neurofibromatosis, an incurable disease. Of course, it could be something else entirely, or it could be nothing but, Cara shows several signs of neurofibromatosis including developmental delays and pressure on nerves or other areas of organs (hydrocephalus).

Not wanting to be an alarmist, her neurologist has decided to take a two-fold approach to finding out what's going on--both with the spots and with Cara's delays.

1. We are to undergo genetic therapy at Children's Hospital to investigate the spots (there's a genetic malformation that is linked to neurofibromatosis) and possible causes for Cara's hydrocephalus and delays. This process is pretty intense and starts with a very complete family history and discussion with the geneticist. Usually, genetic mapping is done, as is some pretty extensive blood work. I have called and scheduled an appointment for the earliest available time. Would you believe that we have to wait until DECEMBER to be seen in the clinic?! The wait is going to be unbearable! We may try to find somewhere else to go, but I really trust the expertise of Children's, so we'll see.

2. Cara is to have another MRI to check for any increase in pressure or fluid in her brain as well as to check for any signs of malformation. She hasn't had one since July of 2007, so it's a good idea regardless. I am waiting for the order to be processed by the radiology department at Children's and then will call tomorrow to schedule the scan. This should be done in the next few weeks, so at least we'll be able to rule out anything "structurally" wrong relatively quickly.

I am trying to get a grip and stay positive, but darn it, it's not easy! The cards just keep staking up against our poor little girl. I just have to keep remembering...That which doesn't break us, makes us stronger! That said, Cara is already a strong little girl in mind, body & definitely spirit!

Rest assured, everyone, that I will be keeping you all posted as we continue the quest to answer the questions around Cara's delays.

Eyes & Ears & Mouth & Nose...

Off to the ENT she goes! (hey, it rhymes)
Cara had her follow-up visit with her ENT doctor today. First, we had a comprehensive hearing screening down with a pediatric audiologist. She stated that Cara has really narrow ear canals, some of the narrowest that she's ever seen. She had a heck of a time getting the little ear pieces to fit in Cara's ear, she had to use a newborn size! Cara tolerated the probes, responded to her name being whispered to her and glanced right & left at bears lighting up and playing the drums. The conclusion at the end of the battery of tests was that there was significant fluid behind the eardrum on her right ear, which is the side of her head where her VP shunt was placed. This is a very common occurrence with children who have hydrocephalus as the drainage tube for her shunt runs right behind her ear. I'm not sure how the two are related, but they seem to be. This fluid explained why no active vibration could be obtained from that eardrum. Her right ear also showed a moderate deficiency in certain frequencies...again, a result, we hope of the fluid.
After the hearing test, we had a visit with Dr. Werle. He discussed the results of the screening in more depth and then talked about what he felt needed to be done to alleviate the fluid and deal with the deficiency in her right ear. He recommended ear tubes to drain the fluid, then a hearing test done under sedation called an MER. It conducts a hearing screening by measuring the brain's response to sound stimulus. It is the most comprehensive screening out there. He will conduct the test after the tubes have been put into place to see if having the tubes gets rid of the deficiency. If not, we may be looking at hearing aids, down the line. After the MER, he will remove her adenoids to help with her breathing and hopefully, get rid of the snoring and snorting that she has a tendency to do. All three procedures will take no more than an hour. Cara will be under sedation briefly but will be able to go home the same day. She will just have a mild sore throat from having her adenoids removed and should have no pain associated with the ear tubes. Her ENT showed me both diagrams of where the ear tubes go and an actual ear tube. The darn this is no bigger than a bead! The miracles of modern science!
We do not know when the surgery will be scheduled yet as I am awaiting a phone call from the scheduler as she had to check with the hospital to coordinate a time. Hopefully soon! Dr. Werle feels that if it is indeed the fluid that is causing the hearing problems, that the tubes will help and hopefully, Cara's speech will improve. He thinks that part of her reason for her lack of speech is because things sound somewhat "muffled" to her, especially on the right side.

Only time will tell. That said, please keep Cara in your thoughts as she goes through yet another surgery.