We recently started implementing CPAP therapy with Zella, our four year old with ADNP syndrome. Although the following probably only appeals to an incredibly tiny segment of the population, I thought I would share some of the information we have gleaned in going down this road less traveled. Zella’s History with Obstructive Sleep Apnea Zella has mild to moderate obstructive sleep apnea. She was first diagnosed as a two year old after a particularly interesting (read: HEINOUS) sleep study. (Shoutout to Jake for suffering through that one.) Find more information about Zella and her ADNP syndrome diagnosis here. At this age Zella was averaging about 2 apnea events per hour of nighttime sleep. A sleep study one year later at age 3 further confirmed this diagnosis with similar ... [Read More]
autism
Results are in.
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]
