Surgery #9

Cicily is scheduled for an excision of granuloma and a spinal tap on Monday 30th. Dr. Mancuso will flip out a little ball of scar tissue in her trachea and cut it out, then Dr. Black (anesthesiologist) will perform a spinal tap to see if anything shows up to solve the mobility mystery. Sounds easy enough - we'll see. Then the optimistic plan if all goes perfectly is for Cis to stay in the PICU for 3 days capping and pulling out her trach and she'll come home trachless. I'm cautious as this trach process has not gone anywhere near perfectly for the last 5 months and I'm tired of getting my hopes up. Prayers, as always are greatly appreciated and are always helpful.

Sporting Orthotics (not braces)

Cicily is finally (after waiting 2 months for insurance) wearing orthotics on her legs to help her stability. They are technically AFOs, ankle foot orthotics. Maya may correct you as she did her aunt if you try to call them braces. Are you thinking what I think everyday when I put them on, "how much more gear can you put on a little body??" The plus side - she does get to wear expensive skater shoes that I'm sure someone thinks are cool.

Cicily is not a fan of the AFOs. She hasn't learned how to maneuver and crawl in them yet, so they actually limit her mobility at this point. I'm sure she'll get it sometime, I just hope it's soon! They do really help her gait though when we hold her hands and she walks. They also help her legs stay at a better angle when she stands at the couch and make her more stable.

Don't worry, the walking equipment plans aren't over yet. In addition to AFOs she may also get to sport a spandex compression suit to help her stability, and not just an old-lady walker, but a super walker called a gait trainer! Of course none of it sounds like a great time to me, but if it is a step in her gaining the ability to walk, I'm for it. Hell, if it'd help, I'd put her in a bubble of pickle juice all day!!!

White Matter - why it matters

So we had 2 more neurology appointments this week and found out a little more info. Apparently Cicily has no white matter. I asked the doctor how she's able to do anything at all without any white matter and he basically said what they see on the MRI doesn't really add up with what Cicily is doing (average mental capabilities, crawling, signing, etc.). The other neurologist said that newborns can't do anything but flail around and cry because they don't have any white matter in their brains. So basically Cis should act like a newborn; but she doesn't?!? We're of course, not sure why or what this means, but we'll gladly accept it.
It is also clear that Cicily never developed myelination. Her status can't really deteriorate, because as Chris put it, you can't get any worse than zero!
I also wanted to make clear that hypomyelination does not occur with Treacher Collins Syndrome - ever (that anyone knows about). However, we've always been skeptical that Cis has TCS as her genetic tests come back without the TCS gene change and her facial appearance is slightly different from classic TCS. The 3 geneticists we've seen feel TCS is still the best fit for her though, and we agree. I've wondered if Cicily's body may have some protein issues that affect both her TCS characteristics and her hypomyelination, as they both can be caused by proteins not working correctly. We're still doing the spinal tap on the 30th and the neuro-genetics docs are getting back to us on what tests they want to do - genetic, metabolic, fatty acid chains were mentioned.
We are very glad to be working with good neurologists and a geneticist who all seem to be very intrigued by Cis' mysterious, unheard of combination of characteristics. So far they are all doing their research to try and solve the puzzle. We hope they continue to be interested! Chris hopes Cis makes it into some medical journals as "patient A".

Why is Cicily not walking?

We may have found part of the answer to why Cicily is so "wobbly" and has irregular eye movements (nystagmus). Cicily had a 2nd MRI of her brain last week which showed she has hypomyelination of white matter - it's the coating on the brain which helps get signals to the places they need to go. It's developed between 0-3 years old. So in Cicily's first MRI at 1 year old, the lack of white matter wasn't very significant, but now at 28 months old, it was very notable.
We still do not know why she is so deficient in white matter. Apparently it happens with certain genetic diseases or metabolic disorders. One of her neurologists has ordered a spinal tap to test her spinal fluid for various metabolic disorders and other cool, unusual things. So, we're anxiously awaiting the spinal tap and hoping it provides further answers. We're especially hoping the final diagnosis is treatable.
We'll continue to work with Cicily's 2nd and 3rd neurologists and see a 4th soon as they all seem to have different areas of expertise and hopefully together they can figure out our adorable, enigmatic little lady.
I was at first very nervous and upset about this new finding as it's affects can be pretty devastating. I actually feel good about it now though and have faith that in some way the many blessings Cicily has received will be realized. As I said before she was born, she'll grow up and be just fine, I just worry about what she'll have to go through to be fine. (I didn't have a tiny inkling of how much she would have to go through.)

HAPPY VALENTINE'S DAY!!!

Cicily got a box of chocolates for Valentines today. Chris and I were outside for 3 mins. discussing where to plant our new passion fruit vine and walked back in the house to see Cicily in the midst of smashed chocolates all over the carpet and herself! She thought she was so cool, and so did we!!!

Going Bilateral

Cicily got her new BAHA last week!!! She's now the proud wearer of two hearing aids on her headband- one on each side. We've been working on getting this additional BAHA since last May, so we're very excited!
Theoretically this gives her a higher hearing threshold and some directional hearing. All I know is now she can hear me when I'm suctioning her trach and when I whisper to her at church. In fact, Cicily hears better than I do now! At her hearing test this past Tuesday she heard a very low tone that I didn't even hear. (So, good that Cis hears SO well, and kinda bad that I hear less than my girl with a hearing loss!) :)

Jaw Distraction Before & Afters

I realize it's a little late, but we now have pictures to compare Cicily's jaw from before her jaw distraction surgeries, to after her jaw distraction. I like to use her trach vent as a "yardstick". The difference is truly amazing! She has a much bigger jaw. She also has much more hair! One grew easily and naturally; and one grew with the incredible expertise of doctors, and care of Mom, Dad, Grandma, family and friends.
Before pics were taken July 2008
After pics were taken Jan 2009