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.
First Day in the NICU, Her muscle tone was so low she couldn’t move her legs
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”
Home from the NICU, still with NG Tube, such a sweetheart
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.
Diary of a PWS Mom 
April 4th, 2013 at 10:08 pm
Hello my name is Amanda. I know exactly what you are going thru cuz I have a 20 mo. old little boy who also has PWS.
April 5th, 2013 at 8:03 am
She is an angel comes from sky I have my son pws he is every thing in my life god bless all kids pws
April 5th, 2013 at 8:41 am
my son Harris has just turned 6 and yes its been tough but you know what not nearly as bad as the ‘experts’ predicted. yes we have a long way to go but at the moment he is slim,healthy and a true joy and pleasure to have good luck to your beautiful daughter and your family. xxx
April 5th, 2013 at 1:00 pm
This is a very inspirational story. Having worked with people with PWS for years, I am in awe of the love and dedication that I see in parents like this Mom.
April 5th, 2013 at 2:11 pm
My heart goes out to you. I remember those days, so shocking, & traumatizing. It was as though suffering a sudden death.
Can I please tell you that it gets better, it really does! Try to stay in the day, in the moment. Just don’t get to far ahead of yourself. I truly wish I had someone to tell me not to read all the nightmare provoking articles. While it was imperative to get our “early diagnoses,” (3 weeks for us) and to gain as much information as we could to educate, prepare, and care for our daughter. I sure could have saved myself so much heartache, stress, & worry by not getting to far ahead. The PraderWilli association was a God send to us. I reached out to them so many times, and continue to when I need something, anything. There is always a kind, compassionate, educated person on the other end ready to help with any situation you may find yourself in, no matter what it is, they have an answer for you! I would say to reach out to them before anything else.
My delightful daughter is 5yrs. old going on six in July. She is larger than life, & full, full, full of love, & to know her is to absolutely love her. I realize I may be a little partial, but she truly is nothing less than a blessing from God. She is so funny, & animated, she likes to make you laugh, & is good at it!!! She gets along well with her brother, & other children. She has friends, she shares, she’s smart! She is in no way a little “food seeking” monster! We have not had any major issues. The biggest thing has been her compulsion with her hands. She needs to be told to keep her hands away from her face, or not to touch her ” boo-boos.” If we give her something else to do, she will usually be easily redirected. She is braced for scoliosis, and although she has come a long way, she tires out easily due to her low muscle tone. I guess all in all what I’m trying to tell you is that it is not all bad!
I hope I have not in any way offended you. If you any questions, or if there’s anything I can do for you, please feel free to reach out to me.