FAQs about Cicily

FAQs about Cicily 

(in plain non-medical, child-esque language)

What's that thing around her neck? 

It's called a trach.  It's a tube that goes into her wind pipe to help her breathe. 

Does she eat?

She does eat.  All her food goes straight into her tummy through a feeding tube.   She doesn't have to chew and swallow her vegetables.

How does she hear?

Without her hearing aids she hears like you do if you plug your ears.  With her hearing aids on she hears pretty much just like you.

Does she talk?

She says "yeah" and she uses her face and hands (sign language) a lot to communicate. 

Does she walk?

Nope.  She uses a wheelchair to get around.    

Why does she smile so much?

Cicily truly enjoys her life and all the things she gets to experience.  She loves making people happy.  She's not bothered or frustrated by all the things she can't do, she appreciates all that she can do. 

Does she understand things?

She understands everything that any kid her age does.  In preschool she learned colors, shapes, etc.  In Kindergarten she's learning about adding, letters, etc.
She also seems to understand many things that are only mysteries to most of us.    

What does Cicily have?

In Nov 2017 we FINALLY figured that out!  Cicily has a gene POLR1C that for her made her body develop different facial features (Treacher Collins Syndrome) and a disappearing brain (leukodystrophy).    

Does anyone else have what she has?

Not that we or anyone else we've ever met knows of.  If you think you may know someone - contact us!  Doctors know some people with her same gene that have TCS, and some that have leukodystrophy, but nobody with both.

Is what she has genetic?

We didn't think so.  But just found out that it IS genetic.  She got a recessive copy of the POLR1C gene from her Mom and Dad.  A genetic tragedy or serendipity depending on your perspective. 

Is she ever going to get better?

After she dies and is resurrected she will be all better!

Is she going to die?
Cicily should die before she fully grows up.  Doctors aren't sure how her life will progress/regress.  She is on hospice as of March 2017, so she'll likely die within the next few months.

What does she like to do?

She loves to play with her sisters and be entertained by them.  She loves animals - her dog and chickens specifically.  She loves reading books, feeding her chickens, going to school, singing time at church, going down slides, listening to her music, painting her toenails, being silly with her family and laughing, and many other things. 

If you have any Qs, leave a comment or email me.  I love to answer anything about my little girl.

Meeting Friends

Good Friends (at least their Moms hope so!) - Faith and Cicily

Faith is one week older than Cicily, lives in Colorado and has Goldenhar Syndrome which is very similar to TCS. Faith also has a blog http://kargoll.blogspot.com/ It was so cute when they met Cicily smiled so huge at Faith and Faith gave Cicily a hug!

On Saturday night after the microtia conference, we went to a pizza party for all the families at the conference. I finally got to meet 3 Moms and their children that I've talked with on the Treacher Collins Syndrome Yahoo group. It was so great - like meeting instant long lost best friends! All 3 children were born within a few months of Cicily and have such similar issues. It was awesome to talk trachs, BAHAs, jaw distractions, food aversions, etc. and be completely understood. Hopefully we can continue to meet up as our kids grow.

Mom (Janalyn), Cicily, Faith, Mom (Robin)

Jacob, Jana, Tyler (twin brothers and their Mom), Teresa, Deena (Teresa's Mom), Cicily, Faith

Robin, Faith, Janalyn, Cicily, Aunt Dorothea, Yasmin

Nice People

After Cicily was born, I started to prepare myself for rude comments and stares. Right from the beginning I have been primarily very pleasantly surprised. There are so many good, kind people in this world. Having Cicily has given me a greater hope for our society. The kind acts range from the overwhelming everyday responses in the store about how beautiful my girls are, to people we know gushing over Cicily's adorable smile, to kind strangers on the online TCS group becoming like family, to friends and family giving so much time to make life a little easier for us, to Dr.s bending over backwards to improve Cicily's quality of life.
I've even found that people are more accomodating and helpful when Cis is with me! Thanks Cis, your great looks and and little extras are helping us out!
The latest unbelievably kind act began yesterday. Two of the doctors working together for Cicily's jaw distraction -craniofacial plastic surgeon and orthodontist- came up with a new idea to have a helmet of sorts custom made for Cis to wear for a few weeks to make her bite more closed after her jaw is grown. So the woman who created the baby helmets for kids with flat areas on their heads called us herself yesterday and met us in Phoenix to take Cis' measurements for a custom helmet. It's a $4000 device that she's doing for free and she's putting hours and hours of her time into it on a couple hours notice. I was so overwhelmed that I cried when I hung up the phone (mostly because it's unbelievably kind of her, but also a tiny bit because now my planned "fun" week has turned into an appointment-filled crazy week). If anyone needs a baby helmet for plagiocephaly- I highly recommend Cranial Technologies!!
There are just so many good people I meet all the time, it's so inspiring. So I just wanted to say a giant THANK YOU to all the Nice People out there in the world and especially to all of you loving, concerned people reading this.
We love you!

Hearing - What does Cicily hear?

I realized recently that we have confused a few people because we are teaching ASL to Cicily. So, I thought I'd clarify her hearing situation a little better. Essentially she hears near perfectly with her hearing aid on. Here are the details:
Cicily has no ear canal openings (except a tiny pin-point on one side- still unsure how beneficial that is or isn't). Since she doesn't have an opening to her internal ears she doesn't naturally have a way to conduct the sounds in her environment to her inner ears. This type of hearing loss is called a conductive loss. Basically she naturally hears about what you would hear if you plugged your ears. (In audiological terms, that's down to 45-60 decibels.)
Fortunately there are very cool hearing aids called bone conduction aids. Cicily wears her BAHA every day. (See her "equipment" section on the sidebar for details.) With her BAHA on, Cicily's hearing improves to normal levels. (That's she hears to 15 dbs, which is a whisper level. When the BAHA is implanted hearing improves to 0-5 dbs.)
Essentially Cicily hears very well with her BAHA. It's great sound quality, just more mechanical sounding than normal - it sort of sounds like you're hearing everything spoken through a microphone or on a cassette tape.
We decided to teach her sign language to give her a way to communicate until she can speak well. (Trach + cleft palate + small jaw = bad combo for early speech, but she'll get there)
Thanks to friends for asking me questions! If anyone ever wants to hear how Cicily hears, you're more than welcome to borrow her BAHA for a few minutes.

What does Cicily have?

Cicily has a craniofacial condition called Treacher Collins Syndrome (TCS). For Cicily this basically means she has a cleft palate, small lower jaw, small ears, and no ear canals. When put that way it actually sounds quite simple! In reality because of these things Cicily sees 12 doctors on a regular basis, has 4 therapists, and will probably have 15-25 or so surgeries. It's absolutely amazing the "domino effect" that happens when one little mutation occurs when a fetus is developing! Cis is such a tough little baby though, and she's so easy going. She handles all of her difficulties so well already, she's certainly up for her challenges!

TCS does not affect cognitive (brain/learning) development or physical development (however she is somewhat physically delayed because she's been so sick).

Cicily's cleft palate (which does not include a cleft lip), is very "wide". She pretty much does not have a "roof of her mouth", you can see her nasal bone by looking into her mouth. This impairs eating and speaking. The current timeframe for reconstructing the cleft is when she is 1 1/2 - 2 years old.

Her small lower jaw is the reason for her trach. As I've learned, our tongues are connected to our lower jaws. Cicily's lower jaw is small and underdeveloped. Therefore, this causes the placement of her tongue to be further back than usual and it rests on top of her airway (trachea, or "windpipe") not allowing air to enter or leave her mouth/nose. Her lower jaw will be grown through a procedure called a jaw distraction (current timeframe: 2-4 yrs old).

Finally Cicily has small ears and no ear canals. To make her appearance more "normal" (although her Mom honestly loves those little ears and will miss them!), she will have ears constructed when she is anywhere from 4-7 years old. Because she does not have ear canals she has a hearing loss and uses bone conduction hearing aids (implanted at 1 yr. old) to help her hear better.

Links for more TCS information:
(please keep in mind TCS has a broad spectrum with ranges from mild to severe, Cicily's case is somewhat moderate)
http://www.treachercollins.org/main.html Amie's (a pediatric med student w/TCS) site about TCS, includes great personal stories and pictures from a variety of people with TCS.
http://www.ccakids.com/Syndrome/Treachers.PDF My favorite comprehensive info on TCS
http://www.faces-cranio.org/Disord/Treacher.htm A good condensed resource on TCS

Initial email about Cicily and current addendum

Hello to everyone! I've been wanting to send out an announcement and some pictures of our new little girl Cicily for a while, but have been a little busy...

Cicily Anne was born on October 3 and was welcomed by Mom and Dad, 6 doctors and 15-20 nurses. The doctors put together a team for a planned c-section in the O.R. because they suspected she had a cleft palate and possibly would have difficulty breathing on her own. Ultrasounds had indicated she had a small lower jaw and wasn't swallowing well as told by the overabundance of amniotic fluid I had (3 gallons according to the doc). She was 2 1/2 weeks early and weighed in at 6 lbs. 12 oz. The doctors intubated her (gave her a breathing tube) right at birth. Then she was whisked off to the NICU. The doctors diagnosed her with Treacher Collins Syndrome. This is a genetic mutation that she inherited from us. Most likely Chris nor I have it, one of our genes just mutated and she happened to score that gene! It causes underdevelopment of the bones in the face and head to varying degrees.

The day after she was born the doctor tried to extubate her(take out her breathing tube), but she couldn't breathe on her own in any position they tried. So a week after her birth she had her first surgery to put in her trach. The E.N.T. (ear, nose and throat dr) said because her chin is small and set back, her tongue sits right on top of her trachea, blocking her airway. So he did a tracheostomy so she could breathe. Her plastic surgeon says at 3-4 years of age they can lengthen her jaw and she should be able to breathe on her own and lose the trach.

Cicily also has a cleft palate (doesn't include a cleft lip). The roof of her mouth is open in the soft tissue area and you can see her nasal bone. This they will repair at 9-12 months of age.
With the cleft palate and the trach she has difficulties eating. She actually sucks much better than the doctors thought she would be able to. We give her a bottle with a special nipple for cleft palates about once a day. She can't get nearly enough food that way though because it takes a long time for her to get it out and they're afraid she will aspirate milk into her lungs. Consequently, at 2 weeks of age Cicily had her 2nd surgery for the surgeon to put in a g-tube (feeding tube directly to her stomach).

Another symptom of Treacher Collins Cicily has is small ears and unformed ear canals. They tested Cicily's hearing and she hears 60 decibels (as if you plugged your ears). So she has bone conducting hearing aids that we put on her when she is awake. These activate her existing cochlea in her inner ears through vibration and she can hear.

Now after 3 weeks in the NICU and getting her to be able to breathe, eat and hear, Cicily is home with us! She is doing fabulously and Mom and Dad have almost received RN degrees learning everything they need to to care for her. She is a good sleeper and not a very demanding baby. We just try not to get her angry, because she is a fighter! The doctor that intubated her at birth said she tried to punch him and I was present when 5 nurses had to hold her down after she'd pulled out an I.V. they'd just put in. We figure this will be a good trait as she goes through her other numerous surgeries. Treacher Collins doesn't affect any brain functions, so she should have no problems mentally. From what we understand at this point, all of her surgeries should be done by the time she's 8 years old or so. We just think she'll be a fun, brilliant \ngirl just like her big sister! We're very thankful to all who have said prayers and sent love in her behalf. We've had many little miracles over the last 7 weeks.

Sorry if this is way more info than you cared to read, I just wanted to try and pre-answer any questions. Feel free to ask us if you have any questions or anything, I always like talking about my girl! If there are any family/friends I haven't sent this to that would be interested in Cicily, feel free to send this on.


Addendum to initial email about Cicily's birth

I sort of laugh now when I read that email. I'm kinda glad I thought it would all be that simple back then! In reality, it looks like most of her surgeries to get her started will be done by the time she's 6 (cleft palate, jaw distraction, hearing aid implants, ear construction). But many people with TCS have 20-30 surgeries by the time they're 20. So we'll just see how Cicily grows!
After seeing Cicily's palate, the plastic surgeon decided she'd probably have to wait until she's more like 1 1/2 to 2 years old before she does the first surgery to repair her cleft. We're also working on getting her jaw distraction done earlier than 3-4 yrs old, more like 2-3. As for her hearing aids, we're also trying to push those to be implanted earlier than usual- like around 1-2 yrs old.
Anyway, it seems to be all a matter of just how she grows, Dr.s opinions, insurance companies, and ultimately what her parents think is best.
Check back for more updates on surgeries - we'll have plenty of changes I'm sure!!