Life as a Leach

I apologize for the lack of posting.  But...no news is good news in the medically fragile world!  Abby has been doing SO well and we are thankful for the many improvements to her health.  She had a touch of pneumonia in the beginning of February and stayed at home!  This is huge because pneumonia can be a beast for diseased lungs.  She did her breathing treatments like a champ and hung in there just fine.  The last few weeks, her school has been pretty germy.  We kept her out for a week and a half to protect her while the flu made its rounds.  Everything is looking much better now though, so she happily went back on Tuesday.  While she is the one of my kids who I could easily home school, she is also the one of my two who simply loves being around people! Today is Rare Disease Day, and I wanted to share what I have been posting on Facebook with you all here. Cerebrocostomandibular Syndrome, Abby’s primary diagnosis, is extremely rare. T...

Today is Rare Disease Day, where all of the orphan diseases come together to raise awareness for Rare Disease.  While these individual diseases are quite uncommon, one in ten diseases is actually considered rare!  Abby's is one of the rarest, with Cerebrocostomandibular Syndrome only affecting approximately 10 people in the world! But what is Rare Disease for us? Rare disease is a toy zebra hiding among feeding bags, syringes, and cans of Pediasure. It means fighting with insurance to get essential services deemed medically necessary.  Being rare means having to become the expert on your daughter's condition, because no one else is. It is feeding pumps, ventilators, pulse oximeters, and oxygen tanks crowding a little girl's room. Rare disease means frequent phone calls to doctors, nurses, case managers, and supply companies. It is scars that tell the story of battles won. Having a rare disease means isolation and loneliness because of the threat of germs....

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...

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...

Matt and I were amazed and humbled at the number of people who took the time to support our family by sending in their "blue" pictures.  There were many others who wrote Facebook posts to show support as well.  As I said in my Facebook post yesterday, the thing I love about Rare Disease Day is that for once, you're not alone. When YOU are the expert teaching the doctors about your daughter's syndrome all of the time, it can be draining. With only 9 other kids in the world with the same syndrome, there's not lot of opportunity to band together. But on February 28th, all of the families living with a rare disease can join together and show how strong they really are! Thank you, thank you, thank you  for loving on our family in this way!  The kids loved seeing all of the pictures!  Here's the recap: Family members showed us how much they love Abby... Does Anna look up to something, or what?! We had schools wearing their blue... ...