As my Pooh’s Corner readers & friends already know, we did not have Lillian tested for the C17 deletion while I was pregnant. It wouldn’t have changed our decision to have her & there is a chance of miscarriage when you have an amnio….so we decided to wait. We also understood that our odds of having another child with the same deletion as Emily was higher than most & if that was God’s plan for us, we were definitely on board.
When Lily was born, I knew the moment I layed my tear filled eyes on her that she did not have the C17 deletion.
She was strong and very alert.
But we want to rule it out.
That is the reason for our recent visit to Emily’s neurologist at CHOP.
Mental Status: Lillian is awake and alert, interactive with her environment, making good eye contact with the examiner and cooing. On motor exam, muscle bulk is normal, and tone is normal. Strength is normal (5/5) and symmetric in both upper and lower extremities. On sensory exam, Lillian does withdraw to tickling and pinching in all four extremeties. DTRs are 2+ and symmetric in all extremities. Primitive reflexes include normal: root, suck, palmar grasp, plantar grasp, Moro and ATNR.
Lillian is a 5 week old delightful little girl whose sister Emily has a 17q21.31 microdeletion syndrome manifesting as developmental delay, seizures and hypotonia. Her family is here today to evaluate her for the same syndrome. While her examination and development thus far are very encouraging and normal, I do think it would be prudent to still obtain a screening SNP array today to ensure she will not be facing similar problems as Emily.
We discussed that results typically take 6-8 weeks to return. I will contact the family when I receive them.