I hope you all had a wonderful Christmas with your friends and family and welcomed the new year with lots of excitement for what 2013 will bring you! I know we have.. We have started 2013 very busy. There is lots to update on Bella and lots that we will be doing in the near future, which is always exciting and nerve racking at the same time.
Lets start with ENT...We visited Dr. Yuksel in December and came up with a pretty good game plan. We know that she still is not breathing the way that we want which we will address if we go in to put tubes in her ears. We need to do a hearing test, CT scan - which was done today (1/9/13), and fluid check in her ears before we do ANY surgeries.
When we go back to see Dr. Yuksel on Jan. 22nd, we will the get the results of the CT scan which was of her temporal bones. This scan was really needed so that we can get a better grasp on the Mondini Deformity and try and understand/predict to what extent of hearing loss Bella will endure as well as what it will mean for Bella vestibular function. The CT will also let us see her nose and how much breathing space she currently has. When we go to the office on the 22nd, we will also have the fluid check and hearing test. Depending on all of this, we will talk about putting in tubes and a second nasal surgery. If we go in to put tubes in Bella's ears, we will also attempt the nasal surgery again, most likely take out her tonsils and adenoids and also conduct a sedated ABR hearing test.
We are crossing our fingers, hoping and praying that the CT scan is also going to show us that there IS more bone that we can safely take out of her nasal passages. We are hoping Dr. Yuksel will be on board with widening her nasal passages sooner rather than later as Mike, Ben (speech therapist) and I are very confident that the more airway she has through her nasal passages, the easier her speech will develop.
Now, onto Neurology.. We saw Dr. Mancias last Friday and had a pretty long successful appointment. We talked for a long time about how Bella is such a rare case, nothing by the book, and how special she is. He has done a lot of research based on complications in my pregnancy, talked with many other geneticists, neurologist and pediatric specialists to try and get some insight into what we might be dealing with. We have realized we have a lot more "testing" to do.
He was VERY pleased with Bella's tone. (Thanks to a year of PT/OT) His two biggest concerns at the moment were her speech and the way that Bella is walking. Bella has very good receptive speech but no expressive speech. We talked about it being from structural issues with her face/mouth vs her brain not sending the right signals. Dr. Mancias said that an EEG could give us some pretty good information on if her brain is "misfiring" and not getting the signal sent. If she is "misfiring" ...in other words, having seizures, then there is something that we can do for her and that would also explain why she has good receptive speech but no expressive.
This is one of those moments where Mike and I sit and think.. Do we want to find something? Do we want to have a diagnosis of Epilepsy or so forth and just deal with that, on top of everything else? Or, do we not want to find seizures and be left with the dreaded "unknown" still? We have so much unknown with Bella that sometimes you want an answer so bad that you almost don't care what it is!
Now that we have discussed the EEG and her speech problems, lets talk about the other end of her body... Bella's walking. I was so excited to show Dr. Mancias Bella's walking and to tell you the truth I had no idea that he was going to be so disappointed, but he was. His exact words were "When you told me that she has been walking since Nov., I didn't expect it to look like this." He said her gait is still way to wide and he is not pleased with the way that she holds her hands up and arms out to the sides, which is considered an Ataxic Gait. She is extremely clumsy and trips on her own feet a lot. He said that he expected her to walking much more gracefully.
Our next step for this is to do a 2nd MRI. Her last MRI was at 10 months and at that age the brain still had TONS of developing to do. Now even though it has only been 8 months, there will be alot more developed brain to look at, thus more areas to find a deformity. He is mainly going to be focusing on the Cerebellum region which has to do with motor control.
We revisited the topic of Cerebral Palsy and he was very honest in saying that at this current moment, based on seeing her that day, he is leaning towards her not having CP but having something else that has certain symptoms that mirror CP, such as the increased tone. CP and Ataxic Gait don't match, but there are other neurological disorders that have ataxic gait and CP type symptoms...
Our Genetics appointment is not until March but Dr. Mancias said that he was going to talk with the Genetics department and get Bella is sooner. He said that when you have a child, like Bella, who has several rare syndromes/ deformities, they always end up in the genetics department which becomes the "hub" for all the other specialist. We are still waiting to hear if that appointment will get moved up. Dr. Mancias has a gut feeling that we may be dealing with another syndrome that we have not come across yet with Bella, which is something that has crossed both, my and Mike's mind quiet a bit in the past few months.
On a brighter note, we LOVE our speech therapist, Ben. He is awesome and Bella loves him too. Bella is currently in speech therapy 2x per week (at home), special skills therapy 1x per week (at home), nutrition 1x per month (at home), and starting a new PT/OT next week. We have been told to expect 2-4x per week for PT/OT w/ sensory integration. We are excited about the facility we will be visiting for PT/OT, mostly the fact that mommy and Bella wont have to drive and hour each way! WOO HOO :)
Here are some fun pictures from today.. Bella did SO good today and we were in and out of there in 4 hours.. that's a record!
Bella thinks she runs the place... |
She loves her bear :) |
Lovin' on her daddy! |
Mommy and Bella |
Who knew..George was on! |
Going for a ride with our favorite anesthesiologist! |
Couldn't keep her away from the toys. |
Right before they put her to sleep.. |
Still passed out in recovery :) |
