Nutrition Update

I forgot to post last week when we saw Bella's nutritionist for her 3 month check up. We were excited the last time we saw Marisa because Bella was finally gaining weight, really really good weight. Before, she was always gaining so slowly or not at all and was on supplements. The supplements were used for 2 reasons for Bella. 1. To improve weight gain. 2. To make sure that she was getting all the nutrients that she needs because she has a limited selection of food that she can eat physically. We stopped the supplements 3 months ago and now we are starting them again.

Unfortunately Bella has lost weight over the last 3 months, a little over a pound to be exact (which is a ton for a child). The good news in this is that so far it has not affected Bella's growth height wise. From what I understand is that growth weight wise can happen very quickly (month or two) and height wise it takes much longer to be affected (several months).

You can tell that Bella has lost some weight, Mike and I were just discussing a week or so before Bella's appointment how skinny she looked when her clothes were off. You can see her ribs and spine.. it makes me want to just let her drink butter all day. J/K that's gross.. but it would fatten her up! Bella has also not been very interested in eating. She eats a few bites and decides that she does not like it or want it. She has always been like this to an extent, but she was eating enough to "keep her weight". Now, she is not.

Marisa is hoping that this is just a funk and that at our next check up in September Bella will be back on track with gaining the appropriate weight!

For now, we continue with Bella's supplements, which is a total nightmare trying to get her to drink. She hates them! We have tried almost every single one out there and we have not found one that she enjoys...yet. We are also trying to plump her up by giving her lots of fatty foods and of course continue to stay on whole milk until we are told otherwise. At Bella's pediatrician check up they will also run some basic blood work to make sure she does not have any vitamin deficiencies due to the weight loss and lack of eating.

On a side note, Mike and I have seen a little bit of improvement in her swallowing!! She is drinking from a sippy cup now everyday for meals and snacks and only has a bottle for bed/nap. She is choking much less than she was 6 months ago. Same with feedings. We are still pretty much on the same foods that we have been on for a while now but I have not had to pull food out of her mouth/throat in about a month now :) Huge improvement from the almost everyday occurrences that were happening before.

It puts a smile on my face when I realize how far Bella has come.. she is such a trooper! I can't imagine my life with out her!!

Bella also got to kick that Apnea Monitor to the curb today!!! We have had it from the day that Bella came home from the hospital and now she is almost 2! I have cried over this thing one too many times, but I am so grateful that we had one. It saved Bella's life on SEVERAL occasions and it gave me a little bit (not much) peace of mind when my eyes were not on that sweet girl to make sure that she was still breathing. Good riddance Apnea Monitor, it's time for you to go watch over another child ;)

A Breakdown Of Bella's Inner Ears

It has been a LONG time since my last post. Way to long. Sometimes I just can't find the words or I don't know what to say. Sometimes I am just tired. Tired of thinking about it, tired of talking about it, tired of worrying... but it's time to explain Bella's ears so that everyone has the opportunity to understand. I really don't know why it has taken me over 6 months to tell everyone what is really wrong with her ears. I think I was secretly hoping that if I don't tell everyone, then maybe one day her ears would be normal and her missing pieces would magically grow back (wishful thinking!)

There has been A LOT that has gone on over the past several months but I am going to start and stay focused on one thing for this post, Bella's ears.

I will start with the medical jargon....
________________________________________________________________________
EXAM: CT of the Temporal Bones

FINDINGS: This patient demonstrates bilaterally symmetric abnormal anatomy.
The external auditory canals are normal. The ossicles are morphologically normal. No middle ear masses.

Facial nerve takes a normal course bilaterally.

The vestibules are bilaterally patulous with absent horizontal semicircular canals bilaterally. Dysmorphic superior and posterior semicircular canals. The vestibular aqueducts are enlarged. Cochlear morphology appears normal.

Midline maxillary incisor is present with findings of pyriform aperture stenosis.
_______________________________________________________________________

Now, some of our medical friends may understand all of this, or most of this. For everyone else, let me explain what this all means in the easiest terms I can find.

Your vestibular system is the parts of the inner ear and brain that process the sensory information that controls balance and eye movement- it is a persons core functioning. If it is damaged or diseased it greatly affects how the person feels and how they are able to perform day to day activities!

You have 3 semicircular canals. The horizontal, superior and posterior that are filled with fluid that contain motion sensors. Bella is missing her horizontal canal completely and has malformed posterior and superior canals. (They are only partially formed and not closed). Your semicircular canals are the system that detects rotation. The horizontal canal corresponds to rotation on a vertical axis (spinning) and the posterior and superior with rotation such as nodding.

We know that Bella is greatly affected by her missing canals. She has good days and bad days. Some days she wont look up from the floor while other days she will go a whole day with out us having to constantly repeat ourselves with "Bella, keep your head up" or "where is the sky?". Some days her gait it very wide and others it is 'almost' normal. We take it one day at a time. You never know what is going to set her off and make her dizzy but hopefully one day she will be able to express herself enough to tell us what makes her feel most comfortable.

Bella also has an enlarged vestibular aqueduct (EVAS). To be honest I am not sure of the actual function of this specific aqueduct, but we know that when it is enlarged, like Bella's, it can affect a person's vestibular function as well as their hearing. There is lots of correlation regarding hearing loss throughout childhood and EVAS. The hearing loss can come on suddenly, from any type of head trauma, or slowly over time.

Bella's ENT and Neurologist both told us that she should not play any contact sports in the future and that we need to be extra cautious about any falls or head banging. Oxymoron much?? The first thing I thought was..our child has no vestibular system and we have to avoid her from hitting her head.. I guess you haven't lived with someone who has balance issues, especially one who is just learning to walk! I even asked him, "and how are we supposed to do that?" His response was "I am not sure, I know that will be hard to do". I think the first week after we were given this information Bella hit her head more times that Kallie has in her entire 3 1/2 year life! Mike and I have since decided to not worry about overly obsessing about the head traumas and come to terms with if she looses her hearing because of it then it was all in her plan!

The fact that Bella is missing her vestibular system AND walking/ functioning is a mystery! She is a miracle who is living life as if she just got off the tea cup saucer ride at the fair (constantly spinning and unstable)... Looking at Bella on paper, her therapists and doctors would have told us that this child would not be sitting, standing or walking, but she IS! It is amazing how the body and brain can overcome and adapt while missing such important structures that our bodies are meant to depend on :-)

A Rather Cranky Morning

Good Morning!

Bella and I have been kicking around the house since 3:45 am! This morning was actually not at hard as I expected, at least for me. Bella on the other hand has been pretty upset with me this morning, 4 hours of sleep just does not cut it when she is used to 12...

Can you tell?

 

This was right after she rolled around on the floor crying, rubbing her eyes for 20 minutes.. she finally decided that she would sit with me and ended up not leaving my side for 2 hours! The things we do for our children :)

 

Today Bella is having and EEG to try and figure out if her brain is "misfiring" or experiencing seizures. Mike and I do not think that she has been having seizures, but it is very possible for her to be having silent seizures, or seizure activity in her brain. Her neurologist really thought that this was the next step for Bella as he was really concerned with her expressive speech. He said if he finds any activity he would expect it to be on the left frontal lobe which would give us some insight into her expressive speech delays.

 

If Bella's past sleep studies are any indication of how this morning will pan out then we are in for a rough day! Pray that Bella cooperates today and stays relaxed through this process. We need to get sufficient data so that we don't have to do a 24 hour EEG ;)

 

Happy New Year!!

I know I am a little late. Well, very late, but none the less.. Merry Christmas, Happy New Year, and everything in between!!

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 :)

Baby Steps

As many of you already know, we have been in physical therapy for almost 11 months now and when we started therapy, Bella could not do anything!

She could not push up on her tummy, roll over, play with her toes, nothing. She laid on the floor or in her bouncy chair, stiff as a board. Literally. She was so straight and could barely bend her legs or trunk!

We have worked so incredibly hard to get her sitting (12 months of age), standing against furniture, (14 months of age) standing unassisted for 5 to 10 seconds, (last week, 15 months of age) and as of today, just shy of 16 months, Bella took her FIRST steps!!

Our baby girl who has so many odds against her - spastic diplegia, vestibular problems, behavioral problems and delayed development- showed us her strength, her determination and courage. She showed us proof that she can walk and WILL walk, and better yet, she is not even 16 months old! She has so much going for her and I can not wait to see what she will accomplish in the months/ years to come.

Enjoy her first few steps! (Hopefully we will see much more of this in the near future) :-)

[Disregard the mess!]