Trisomy 20 Awareness Day, featuring Nalia, with partial Trisomy 20!
Nalia Marie Pekarek is diagnosed as having partial trisomy 20q and it is attached to the 17th chromosome. She is too young to know exactly what to expect from her chromosome disorder as far as developmental or other growth type issues she might have. Looking at Nalia for the most part you can't tell she has a chromosome defect.
Nalia also has a very severe and complex set of heart defects. She has Hypoplastic left heart syndrome, dextrocardia and several other defects that she is being treated for. She had open heart surgery called ASD repair at 12 days old and was on the ECMO machine for 6 days following her surgery.
The outlook for Nalia prior to birth was very bleak and even at birth the doctors really didn't expect much from Nalia. She has proven to be a fighter against all odds and is very alert when she isn't sedated from procedures and loves to listen to music and stare at her mommy and daddy.