Our Journey Raising Two Children with Special Needs

This blog chronicles our life raising two children, Nicholas 14, diagnosed with Prader-Willi Syndrome and Weston 17, diagnosed with Autism/Asperger's/ADHD. It's the ups, the downs, the joys, the sorrows and most importantly, the beauty of living a life less perfect, a life more meaningful.




Wednesday, May 30, 2012

Words I Know...Thanks to Prader-Willi Syndrome

On January 18, 2002, my son, Nicholas was born with Prader Willi Syndrome.

While much of that day is a blur to me now, there is one thing I remember very clearly....the unusually high number of complex medical terms the physicians used to describe my son's diagnosis to me. I remember feeling as though I was a pre-med student who had forgotten to purchase her medical dictionary.

Beside my infant son's bedside, I kept a pen and pad of paper. I wrote down every word I didn't know. Since that day, I have accumulated a rather impressive list.

hyperphasia
acromicria
dolechocephaly
slipped capital femoral epiphysis
cryptochidism
hypogonadism
hypotonia
xerostomia
strabismus
scoliosis
kyphosis
valgus foot
ligamentous laxity
uni parental disomy
dysphagia
cardiac dysrhythmia
Von willebrands disease
gastroparesis
hypoplasia
hypopigmentation
methylation, deletion, imprinting mutation
electrical status epilepticus of sleep
adrenarche
mitochondrial DNA
autonomic dysfunction
hypoprolactinemia
adrenocortical dysfunction
dysarthria

This is the overwhelming list of medical terminology which must be thoroughly understood by parents of children diagnosed with PWS.

I don't know about you, but I believe we should qualify for an honorary Harvard Medical Doctorate Degree!