Rare Disease Awareness Day

Every parent has dreams for their children. When you’re pregnant, everyone asks if you’re hoping for a boy or a girl.  There’s so much excitement.  You don’t often think of the “what ifs,” but those “what ifs” can change everything.

Truck driver Jason Baker and his wife are like every parent– they want their children to grow up happy and healthy. Cadence and Caylie Baker have a rare genetic abnormality called chromosome 2q371 deletion.

According to Merck, “chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability,” however the severity of the anomalies and disabilities vary greatly.  Some children suffer serious, life-long affects while others show very few symptoms.

There are few reported cases of chromosome 2q371 deletion.

The U.S. National Library of Medicine and National Institute of Health describe  2q371 deletion as ,”neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein.”

February 28, is national Rare Disease Day.  Let’s all work together to bring more awareness to the fight that many family battle daily.  

In honor of Cadence and Caylie Baker, the children of a fellow driver, tie a blue ribbon to your truck, snap a picture and send it to CDLLife at [email protected], or upload it to our Facebook page. We’ll share the pictures with the Baker family.  Let’s show this family our love and support! 

Rare Disease Awareness Day

 

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