Monday, February 29, 2016

Faces of Cerebrocostomandibular Syndrome

Today is Rare Disease Day, a day when all of the orphan diseases can unite and not feel quite so alone.  It's a day to show that while your disease isn't as well-known as others, you are still supported and loved.  And yes, it's celebrated on February 29th on purpose.  :)

In honor of Rare Disease Day, I wanted to share (with their permission, of course!) a little about some of our friends with Cerebrocostomandibular Syndrome.

We are the faces of Cerebrocostomandibular Syndrome.

We are sons.  We like painting, cars, and cartoons.

We fight naps!  We like to build things and knock them down.

We are superheroes!  We love to count, sort shapes, and play with animals.

We are aunts to cute nephews.  We love Bruce Springsteen, chick flix, and the New York Giants.

We are college seniors!  We live on campus, are presidents of organizations, and are finishing bachelors degrees.

We are independent!  We love Chinese food, traveling, and family.

We are college seniors.  We are in plays at school, love to shop, and listen to audiobooks.

We are Taylor Swift fanatics!  We go to concerts, enjoy movies, and...did we mention we love Taylor Swift?!

We are athletes.  We play baseball and bowling and go to hockey games.

We are honors students who participate in Math Counts and Geography Bees.

We are boy scouts who love the outdoors, camping, and riding our bikes.

We are little brothers who wear bow ties, love Dr. Who, and pandas.

We are joyful!  We love dolls, I-Love-You-fingers, and laughing.

We are little hams.  We sing along to Frozen, love dress-up, and dance like nobody's watching!

We are sisters.  We love cuddling, being with our families, and enjoying each day as it comes.

We are the Faces of CCMS...and so much more!

Happy Rare Disease Day!

Sunday, February 28, 2016

What is Cerebrocostomandibular Syndrome?

Cerebrocostomandibular Syndrome was the diagnosis given to Abby when she was less than 12 hours old.  We were hoping against hope that the geneticist was wrong, but she wasn't.  Some of you are relatively new to this blog, and it's been a while since I gave a big explanation of her entire complex syndrome.  Continuing with our countdown to #rarediseaseday, I thought it would be good to share the basics.  So what is CCMS?
CCMS is an extremely rare inherited disorder with approximately 65 documented cases.  characterized by an abnormally small jaw, a cleft palate, improper positioning of the tongue, and abnormal development of the ribs.  One third of children also have very small heads (microcephaly).  In most cases, such abnormalities contribute to significant respiratory problems during early infancy.  
Abby has all of these symptoms.  About half of her ribs are in multiple pieces.  On an xray, it looks like someone took a hammer to her ribs.  These rib gaps have kept her lungs from growing like they should.  Before the VEPTR was implanted, her lungs and spine were the size of a newborn's.  We are so thankful that the VEPTR is giving her room to breathe!
Her cleft palate was repaired at age 1 and her jaw was brought forward 10 mm at age 4.  We will most likely have to put her through another painful jaw distraction when she gets older, as the jaw often retracts as kids grow.  But we aren't going to think about that for a while...
Although some affected individuals have normal intelligence (like Abby), others exhibit moderate to severe cognitive delays (yes, I had to change this from "mental retardation."  UGH...). It is thought that the cognitive delays are really caused by a lack of oxygen from pulmonary issues, not as part of the actual syndrome.  There is currently a study being done in Canada to isolate the gene that causes CCMS.  We are a part of this study and it was found that I have the same extra gene that Abby does.  At this time, very little is known about the cause.  We are hoping that changes!
In infants with cerebrocostomandibular syndrome, the rib gaps may cause the upper chest to appear abnormally small, flat, and narrow; result in instability in portions of the chest wall; and contribute to abnormal breathing rhythms (this is sometimes called flail chest and can cause them to belly breathe).  Affected children may also be especially prone to repeated respiratory infections. Such respiratory abnormalities may potentially result in life-threatening symptoms (now do you see why I freak out over colds?!?!). 
Abby's got all of this, but it's her normal.  I have to say that it is kind of fun to watch new nurses check her tends to freak people out!  I just calmly tell them that this is normal for her.  Their eyes get big and slowly nod, no doubt thinking this kid has some issues.  
Due to severe underdevelopment of the jaws, the cleft palate, and/or other associated abnormalities, many infants with Cerebrocostomandibular syndrome may also experience feeding difficulties and fail to gain weight at the expected rate (failure to thrive).  Um, yes.  Still working on all of that.  It's a long process.
In some cases, affected individuals may also exhibit additional physical abnormalities such as improper development of bone and/or cartilage of the windpipe (trachea), elbows, and/or hips; webbing of the neck (pterygium colli); hearing loss due to improper conduction of sound from the outer or middle ear to the inner ear (conductive hearing loss); and/or speech impairment.  Yes to the hearing and speech issues, but everything else seems to be a-ok!

Related Disorders

Source: (summarized by me)

Saturday, February 27, 2016

What About the Rarest of the Rare?

  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.  CCMS is one of those, and I don't see that happening anytime soon!  It's just too rare.  
  • This meme pretty much sums it up!

Friday, February 26, 2016

What are the Treatments for Rare Diseases?

  • According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment.
  • During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.
  • For many patients with rare diseases, there is no specialist.  Doctors simply treat the symptoms of the disease.  For most, this means seeing multiple specialists to address various needs. This is the same for Abby.  The closest we have to a specialist with CCMS is Dr. C., who is the only person to ever see what CCMS ribs look like.  She sees specialists for pulmonary (2!), GI, ophthalmology, orthopedics, and cardiology.  When we add therapies, Abby sees 11 different people to address symptoms related to her rare disease.

Thursday, February 25, 2016

What Can You Do for Rare Disease Day?

February 29th is Rare Disease Day!  We will be wearing blue in honor of the day where orphan disease can ban together and show support for one another.  If you would like to join us, we would love to see your pictures!  Wear your blue and post your picture on Facebook (hashtag:  #rarediseaseday), email them to me at, or post them in the comments section here.  Help us spread the word about CCMS and all of the other rare diseases out there!

Wednesday, February 24, 2016

How Many Rare Diseases are There?

There are approximately 7,000 different rare diseases, with new ones being discovered every day.  

So while the individual rare diseases may not be very common, rare disease are very prevalent in today's society!

You can view Global Genes' list of rare diseases here to learn more!

Tuesday, February 23, 2016

How Are Rare Diseases Caused?

This means that they are present throughout the person's life, even if symptoms don't show up until later in life.

Approximately 50% of those affected by rare diseases are children.  30% of children with rare disease will not live to see their 5th birthday.  Rare disease is the cause of 35% of deaths within the first year of life.

Monday, February 22, 2016

Rare Disease Countdown!

For the next 7 days until Rare Disease Day on February 29th, I am going to share a few little facts about rare diseases to hopefully raise awareness for all of the orphan diseases out there!  Unless otherwise noted, all information shared is from

So today, let's start with the definition of a rare disease. 
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.  Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases.
  • If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country.
  • In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease.

Sunday, February 21, 2016

The Happiest Girl in the World

In the middle of doing a puzzle together, Abby stopped to stretch her back a bit.  I sat in front of her and asked if her back hurt often.  Matter of factly, she said it hurt all of the time and went back to stretching.

Just when my heart broke a little for my poor girl, she looked up at me and smiled, saying, "But that's okay, because I'm the happiest girl in the whole wide world.  I love my family!"

We love you too, Abs!  Keep choosing joy, sweet girl!

Saturday, February 20, 2016

Share Your Ears for Make a Wish!

#shareyourears!  From now until March 14th, take a picture of yourself with Mickey ears (real or homemade!), hashtag it #shareyourears and Disney will donate $5 for Make a Wish!

Here's a short video about it:

We plan to do many more, but here's our first #shareyourears picture of Caleb and me at Disney World!

Friday, February 19, 2016

Confessions of a Type A Personality

I'm a scheduler and a planner.  I can't help it--it comes honestly from my mother.  My calendar is on my phone and literally every. single. thing is written down in it...including when I need to call doctors at the end of the month to schedule pre-op appointments for May because they aren't booking that far out yet.  Ahem.

So I like routines.  But I also like snow days.  When those two collide, I schedule up our snow day.  But don't worry--it's still fun!  We enjoyed some time outside, for sure!

For the schedule, I have a pocket chart with wipe-off cards and clock faces on them.  Then I write out the schedule for the day accordingly.  For example:

9 a.m. breakfast
9:30 a.m. chores/clean up
10:00 a.m. cup activities
12:00 p.m. lunch
1:00 p.m. rest time
2:00 p.m. cup activities
4:30 p.m. school time (we practiced math facts, did Dreambox on the computer, practiced sight words, practiced the trumpet, etc.  It depended on the kid.)
5:30 p.m. dinner
6:30 p.m. clean up/showers
7:30 p.m. bed time

Before you go thinking I am taking all of the fun out of a snow day (or any other non-school day, since I typically use this schedule whenever they aren't in school), let me explain.  My kids need this.  Especially Caleb.  He thrives on routine, doesn't do well when his schedule is disrupted, and loves to know what is going to happen next.  This schedule keeps him very happy.  They actually both love it!

Since I had three extras for a few days, I also created "Cup Activities" to keep them occupied.  This was a collection of 30 or so activities I found on Pinterest and such.  These were written on slips of paper, folded up, and put in a cup. They didn't require a ton of set-up, for the most part.  I always had them draw out of the cup ahead of time so that I could prep if needed.  They didn't have to participate in the activity if they didn't want to, and sometimes someone found something else to do.  Most of the time, everybody played!

 I didn't get through all 30 (I think we did about 12), so I plan to save the rest for another rain snow day.

These were some of their favorite activities:

They played balloon volleyball, with a little girl on each team (they'd gotten bored by the time I took the picture!)  The keyboard was the line. :)  **See my schedule hanging up there near Sara on the side of the book case?

The little girls made tons of pictures with these toilet paper heart stamps!

Play dough is always a fun activity!

This is hard to see, but they made a zip line for Lego minifigures to go down.  They tried different materials and the positioning of the harness to see what affected the speed.  It was pretty cool to see what they came up with!  

We also watched a few movies over the 4 days! :)

Some other activities included bowling, flying paper airplanes, and pudding art.  The older kids sometimes played a board game after the little ones went to bed, but shhhh! They don't know about that!  I know there were more, but I can't remember!  

Laugh and call me Mary Poppins--it kept them engaged, happy (most of the time!), and having fun.  What about you?  What are some of your favorite activities to keep your kiddos occupied when they have to stay inside?

Wednesday, February 17, 2016

Tuesday, February 16, 2016

My Funny Valentines

I've had a few extra kids here since Saturday, while my sister and brother in law were in the hospital with their youngest doing some intensive testing.  She has some problems with her blood sugar and they were able to see a specialist to get lots of questions answered and develop a plan.

So the other three have been with us!  Matt and Owen were gone all day on Valentine's Day because of the Sweetheart Dinner, but our celebrations continued on Monday and into Tuesday with our snow day!

I made some photo booth props because I thought they would find them entertaining.  Boy, was I right!  I have many pictures to share with various props. but here are a few of the Valentine's Day pics.

Monday, February 15, 2016

The Rest of the Magic Kingdom

Photo Dump Alert!!!

Minnie was dressed up as Elsa!

This picture does not do the decorations justice.  Everything was beautifully decorated for Christmas!  I highly recommend going in the beginning of December.  It wasn't crowded and it was gorgeous!

Goofing off at Tinkerbell's house

Main Street

Another Memory Maker Magic Shot.  I love their expressions!

This was our best family photo--I just wish it had been in front of a prettier backdrop than The Mine Train!

Friday, February 12, 2016

Friday Funny

Caleb's treat for the day at our second day at Magic Kingdom??


A cookie the size of his face!  
After this, we put stipulations on what the treat could be!  This monster was nibbled away at even after we got home.  It stayed fresh in a Lock and Lock container, of course. :)

Tuesday, February 9, 2016


I want to share a poem that was written by another VEPTR Child.   It's fitting that this was shared tonight, since Abby found out about her next big surgery today (to put the two long rods in) and cried off and on all night.  She was so sad about the whole thing and even told me her heart was broken. :(. I liked it better when she just looked forward to visiting the playroom. 

While this boy's reason for needing veptrs is different than Abby's, the number of surgeries, the constant pain, the frequent doctors' visits, and the limitations are very much the same.


Scoliosis is the name
Surgeries and braces are the game

Doctors appointments throughout the year
Most of them brought me to tears 

Missing school which I did a lot
Was always hard but give up I did not  

Surgeries were always the scary part 
Being away from my family broke my heart

My teachers and classmates made me feel good 
Knowing what I went through showed they understood

I don't get to do what all the other kids do  
But I don't let that stop me I am a kid too

I am special my spine is made of steel 
The hard part about this is how it feels 

Scoliosis surgeries are not fun 
I am just glad I am almost done.

By: Jojo 
From: Alabama

Family Photos at the Magic Kingdom

One of the "extras" from Make a Wish and Give Kids the World was the Memory Maker package.  This was awesome!!  I got over 700 professional pictures taken, in addition to all of the pictures I took myself.  

In addition to getting all of the ride pictures, we could get pictures taken by any of the professional photographers who walk around.  They are at all of the big photo op places too, so we took full advantage of them--especially when it involved the castle!

When you view your pictures, they often have characters photobombing your pictures.  I thought this one was cute, especially since she was Elsa!

We really wanted to get one of the ice castle with Abby dressed as Elsa, but they turned it off for the fireworks just as we stepped up to get our picture taken.

But our photographer did catch these two super cool fireworks pictures, which I think is pretty darn cool!

We finally did get pictures in front of the ice castle during our second day at Magic Kingdom.

Memory Maker is expensive--not gonna lie.  If I ever happened upon an amazing online deal or something, I think I would definitely do it again.  It's worth it to have all of those awesome professional pictures!