Today marks the day of Cornelia de Lange Syndrome's 20th Anniversary for CDLS Awareness. If you are not familiar with the syndrome, please visit the link above. Each year, thousands of children are born with this rare syndrome but are not diagnosed due to the lack of education of the syndrome. As you can see on the site, all the children have similar physical features. Turned up little noses, thick hair and arched eyebrows, small in stature, are just to name a few of the traits. Along with physical abnormalities, medical conditions are all too common. Acid reflux, severe intestinal problems, heart defects, and cleft and raised palets just to name a few. The key to getting these children to their full abilities and functions is early intervention. Without early diagnosis, early intervention is not a possiblity. Therapies such as phisical, occupational, speech, and developmental can make all the difference in these children.
Almost excactly one year ago, my son Mason was born with CDLS. We were shocked, devastated, and confused. We were so lucky to have Mason diagnosed the day he was born...by a fluke actually. The neonatoloist saw a child with the syndrome in his days as a resident...that was 30 years prior!!! My husband went to the net and found the Foundation for CDLS right away and started educating himself. I was not ready for that yet....I needed to bond with my baby first. First and foremost, he was my baby and he was just beautiful to me. The first couple days were so painful. I don't know why, but I pretended I knew the full extent of the syndrome....when people would tell me a few tidbits here and there, I would just go in the bathroom and cry. It was hard coming to terms that my child is not going to grow up like everyone else....but that is okay. He has brought so much joy into this world, to me, my husband, and our oldest son, Reece. He has a smile that goes on forever and touches everyone he meets.
When I got home from the hospital....unfortunatly without Mason, I was a wreck. I didn't know what the future held for Mason...for us. That was so incredibly scary. Scott showed me a blog he found about another CDLS boy. His name too is Mason! I was just in awe of this little angel. He was so beautiful and he was always happy and smiling. His mom Misty, was kind enough to talk with my husband and email us with support, comfort, and advice. I have a special place in my heart for Misty's Mason.....I knew as soon as I read his story and saw his happiness, that Mason was going to be happy...and that is all that mattered to me. Thank you Misty and Mason!!! Your comfort has meant so much to our family as well as the help from our families and friends!! The CDLS families and community have been fabulous as well. I have gotten to talk to some incredible moms!!!
So please, visit www.cdlsusa.org to educate yourself. Please post a link today and share this with others!
So do not fear, for I am with you; do not be dismayed, for I am your God. I will strengthen you and help you; I will uphold you with my righteous right hand.
Isaiah 41:10
Well, I ordered Mason's Birthday invites today. In 4 weeks my baby will be 1!!!! I just can't believe it! He is so small but yet so big!! Where does the time go?
We (uh-yeah we'll just say Scott too) are going all out (overboard is the word Scott would use) for the party!! Custom invites....custom cake....jumpies...the works!! Thanks to my sister Anne Marie for letting us use her huge back yard for the party!! It is going to be great!! My in-laws are coming in including my sister-in-law Michelle and her three kids!! Reece is so excited too!! I can't wait!!
Only a few more weeks unitl my baby is a big boy!! I'll keep you updated on all the ridiculous party planning!!!
Tonight, TNT aired the annual Christmas in Washington special...ya know, the one where all the famous people sing to the president! Well, to my surprise the IU born acapella group Straight No Chaser was performing!! I was so excited!! I have been a big fan since I was about 18.....I was introduced to the group back then by my sister-in-law who's husband, Patrick is one of the founding members of the group.
The group was recently signed to Atlantic Records after someone saw this highly viewed YouTube video of them performing their famous "12 Days of Christmas."
The group was awesome on the special!! Unfortunately, Patrick is not with the group at this time, but he is in the video below.
http://www.youtube.com/watch?v=2Fe11OlMiz8
As soon as I can find the video of the special, I will be sure to post!!
