Hello! Thank you for taking the time to read my site. This will used primarily to document my daughter’s journey with Prader-Willi Syndrome.

The title of the blog is “Our Journey. . .” because she will never be alone dealing with this. If I’m 100 years old and she needs help, I will gladly hop in my futuristic wheel chair or maybe I’ll have bionic legs. . . Anyways, no matter the age we will be there for her.

Now, what is Prader-Willi Syndrome? It is a genetic disorder that is really really rare. Roughly 2k people in the world have this. Yeah. The world. Basically her 15th chromosome didn’t copy over right from her father, or I gave her 1 too many of my own.

Okay, but what does that mean!? To be totally honest, I don’t know exactly what the 15th chromosome does or makes but I know it has something to do with the hypothalamus. The hypothalamus is our bodies thermostat and it also regulates the Human Growth Hormone (aka: HGH as I’ll be referring to it). So people with Prader-Willi have a harder time staying warm or even getting warm and also for their short stature.

Okay so this doesn’t sound so bad, why are you even writing about this? Well this is the sucky part. There are different stages of Prader-Willi.

0 Stage- In utero. Little to no fetal movements.

1st Stage – Failure to thrive. Infants with PWS sleep A LOT and cannot eat by mouth due to hypotonia (low muscle tone). Before the scientists Prader and Willi and Angelman discovered that it was a genetic disorder they referred to these babies as “floppy” babies. Most infants come out screaming and flailing, but not PWS babies. All of their muscles are practically non-existent.

2nd Stage – Obesity. Toddlers struggle with obesity. They are also prone to having hypothyroidism. Basically, slow metabolism. I might not have an MD but I’m going to guess the two are related.

3rd Stage – Hyperphagia. Aka insatiable hunger. You literally have to lock your pantry, cabinets and refrigerator. They could seriously hurt themselves and this is no doubt probably the scariest one for parents. Usually happens when they are in childhood around 8 years old.

There are a couple more stages but I’m not as familiar with them as my daughter is still in stage one.

So there you have it. If you have any questions feel free to comment and I will get back to you asap!

What’s meant to be will always find a way – Trish Yearwood