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.