genetic test

Helsmoortel-van der Aa syndrome. Zella has an incredibly rare genetic disorder with a CRAZY name.  For now I'll refer to it as ADNP syndrome, its' other name.  Here are a few characteristics of the disorder (as per OMIM)... *hypotonia*feeding problems in infancy*recurrent infections*short stature*joint laxity*hand abnormalities*congenital heart defects*seizure activity*vision problems*dysmorphic facial features*intellectual disability*sleep abnormalities*severe reflux ...and the list goes on and on. Thanks to a $22,000 test done by GeneDx, we have our answer.  But only thanks to our Lord do we have the strength to continue to help Zella grow and develop into the person He made her to be. To our knowledge, this syndrome does not look to be one where she will end up regressing, although it ... [Read More]