Awareness

Since school doesn't resume for a few more weeks, I would like to take this opportunity to share with you a little about my Mason. Mason is my 7 month old son who was diagnosed with Cornelia de Lange Syndrome (aka CDLS) the day he was born.

CDLS is a rare syndrome that affects 1 in 10,000 live births worldwide with several thousand undiagnosed. Children who are diagnosed with CDLS are usually identified by their prominent facial features which include: arched eyebrows that meet mid line, turned up nose, down turned lips, and very long eyelashes. Some children have limb abnormalities and many health problems ranging from heart defects to GI problems. Other problems include acid reflux, seizures, and cleft palates. Physical and developmental delays can range from moderate to severe. CDLS children are also very small.

Mason was very lucky to be diagnosed the day he was born...at just 4 lbs. the neonatologist recognized his facial features because he saw a CDLS baby one time in med school....and that was over 30 years ago. To be sure, a geneticist was called in to confirm. Since Mason has a normal number of Chromosomes, the syndrome could not be detected while I was pregnant, which is the case most of the time.

Early intervention is a huge part and key in the development of a child diagnosed with CDLS. Mason currently has Physical Therapy and Speech Therapy (aka feeding therapy) each week. Soon we will be adding developmental therapy and occupational therapy each week. To date, Mason has had two surgeries, one GI and one for his feeding tube by which he gets fed each feeding. He cannot be fed by mouth because he is at high risk for aspiration due to a weak swallowing reflex. We are hoping that he does a bit better with baby food since the consistency is thicker.
Although, Mason has a long road ahead and several more surgeries,we are so proud of the progress he is making. At just barely 10 lbs and 21 in. long, he is such a joy!! Never in my life did I ever picture myself as a special needs mother....but this has taught me so many lessons and has allowed me to view life in a whole new light. The whole idea of raising awareness is so that people recognize the facial features of a CDLS child so that an undiagnosed child can get the early intervention that is so vital to their future. If you would please kindly take a moment to visit the site and learn a bit more....I would be truly grateful!! Please comment with any questions you may have!!

www.cdlsusa.org

To read updates on Mason you can visit my personal blog by clicking the link to Megzys World at the top of the page....or visit Mason's caringbridge page at:

www.caringbridge.org/visitmasongilbert