Double E Deletion

The long, black mark is Esra's open spine at the 19 week ultrasound.  It is commonly known as Spina Bifida.

     We are carefully watching how a long list of issues interact and affect Esra's daily life. Keeping her out of a classroom setting has greatly helped in stabilizing her health. What isn't known is how a rare genetic disorder of the 6th Chromosome will ultimately affect her.  

    It is called the "Double E Deletion"  because it is named after her.  Her constellation of symptoms cluster around the mid-line of  the body, with the brain, face, airway, spine, bowel and bladder altered in someway by the missing DNA.  Our main focus is the neural tube defect or Myelomeningocele caused by the deletion and all that comes with it.  

For Esra, that is:

• Hydrocephalus
• Heart Defect (Coarct of the Aorta)
• Neurogenic Bowel and Bladder
• Agenesis of Corpus Collosum
• Chiari II Malformation
• Apraxia
• Obstructive Sleep Apnea
• Sub Mucous Cleft Palate
• Scoliosis and Lordosis
• Developmental Delay
• Speech Delay
• Hearing Impaired
• Non-Ambulatory
• Fine Motor Hypotonia
• Hip Dislocation
• Exceptionally Friendly
• Gorgeous complexion
• Radiant smile
• Infinitely Patient