What is Prader-willi Syndrome? That’s a question I asked 22 months ago myself as I heard the doctors diagnosis of my beautiful baby limp laying in the NICU. So here it is.. defined mom style (I’m not a scientist or doctor) Prader-Willi Syndrome (PWS for short) is a rare genetic disorder effecting the 15th chromosome. This defect is totally random, it’s nothing any parent did or didn’t do, in fact it only effects 1-15,000. In the womb my little girl didn’t move around to much. I remember having to go in every week for a non-stress test and ultrasounds to make sure her diaphragm was moving because she hardly moved at all compered to her brother and other sisters who I think were training to be ninjas! At birth infants have very low muscle tone. So low that she couldn’t suck, breathe and swallow at the same time, which led to our next diagnosis…..failure to thrive.
The next few months were horrendous. Yes, my girl made it out of the NICU but not until I learned all about NG tubes, oxygen levels, and heart rates. We had to secure lots of tubes, syringes, a pulsox, oxygen tanks, an IV stand..none of which I had intended in my sweet nursery. We also met people who I had no idea then, would be so close to me they would become part of my family. Her therapists. Physical therapy, Occupational therapy, Speech Therapy and a developmental specialist. I would not be where we are today if it weren’t for these wonderful people!
Prader-Willi Syndrome is bizzare where as infants they have an issue with feeding and lack of hunger to the other extreme ranging from around 2-5 where an insatiable hunger strikes. Yes, you read that right. Imagine being hungry all the time. So hungry that you would go through great extremes to eat. Parents must strictly monitor eating and have gone to the extreme of locking cupboards and refrigerators. If to much food is consumed, there bellies will literally explode and they could die. Unfortunately, kids with Prader-Willi Syndrome are at high risk for obesity. Because of muscle tone and genetic structures our kids need less calories, more vegetables and healthy foods and more exercise than “typical kids”
This is just a generic definition of what Prader-Willi Syndrome is. You can find all the details at http://www.pwsausa.org. This is just the beginning of our journey. My girl isn’t even 2 yet, but I see it coming. Raiding through trash cans and the pantry, today a baby gate went up to keep her out of our kitchen. This is just the beginning. I love my little girl to pieces and I will do anything to help her. So if this blog will help me be a better mother and help other parents along the way then Amen, let’s start writing. Prader-Willi Syndrome, you may not have a cure, but you have one heck of a mom who will fight to the ends of the earth for my girl.