My 3 yr old niece was born with Prader willi syndrome
It wasnt detected during pregnancy, so a healthy baby girl was expected
My niece could not engage in the birth canal and start labour due to her syndrome which causes very low muscle tone.
When we were told my niece had Prader willi syndrome we had no idea what it was, its common but there is no awareness for it hence why we had never heard of it.
PWS is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed. To explain it more simply, The stomach doesnt send the brain the message that it is full, so people with PWS are always hungry and can eventually eat themselves to death.
Could you imagine your baby always being hungry, Your toddler crying at you because he/she is starving but you cant help. It is very heartbreaking for us all.
My niece is a beautiful little girl, she is a trooper and has such a funny personality. She is beautiful but as you could imagine, looks different.
On May 30th it is PWS day, a day to raise awareness for this syndrome and to help those who can’t help them selves. Wearing ORANGE will help raise awareness. http://www.pws.asn.au/fundraising.html
Posted by mrsgreen12, 5th May 2014