Life as a Leach

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...

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 t...

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!

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.

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 juliebleach@yahoo.com, or post them in the comments section here.  Help us spread the word about CCMS and all of the other rare diseases out 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!

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.

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 www.globalgenes.org. 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...

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!

#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:   http://youtu.be/etzDOI96_nk We plan to do many more, but here's our first #shareyourears picture of Caleb and me at Disney World!

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...

She loves her daddy!

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.

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!

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. :)

I want to share a poem that was written by another VEPTR Child.   I t'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  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...

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 cast...