Phenylketonuria Talk

Hey everyone!
As promised, I'm going to post more about Phenylketonuria.
I have already said that PKU is a rare, inherited metabolic disease that someone is born with only if either both parents are carriers (as is the case with my parents) or one of the parents actually have the disease themselves.

Early detection is important, as letting it continue on with no intervention will lead to brain damage. Not to worry, though! Every hospital in the United States is now required to include testing for PKU as part of the newborn screening. A PKU test is done within the first two days of the baby's birth. All that is done is pricking the heel of the baby and collecting some blood samples and sending them off to the laboratory for testing.

PKU is classified in a few different groups. The first group is called Classical PKU. This the most severe and common form of PKU. My brother, Max, belongs as part of this group. Their dietary restrictions are higher than either of the other groups. The second group is called Mild or Moderate PKU. Their dietary restrictions are in the middle range, more than the third group but not as much as the Classical form. The third group is called Benign PKU. My 18 year old sister has a best friend is part of this group, where there is no dietary restrictions, but still have the morphed gene of PKU.

Dietary restrictions are SUPER important. It matters very much how much protein one gets...as a Phenylketonuric does not have the ability to break down protein and Phenylalanine.

I will post more about what types of foods someone with PKU can and can not eat too much of, later.

Below are links to the websites where I got this information. If interested, you can check out more about PKU as well!

http://www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=tests-and-diagnosis
http://www.npkua.org/index.php/pku-facts

As always, thanks for reading!
<3

Busy day!

Hey everyone!
Today's been a busy day for me. After having two days off from the gas station...it felt like a Monday to me today. I was very happy to find out that I don't have to work on Sunday so I actually have a FULL weekend off! No place of work is going to find me there before 7:55 am on Monday!
Not to mention, I was "training" a new girl today and all next week. I say "training" because she actually worked at another of our stores before and so it's more of a refreshment for her.

That means that I get to take my VACATION! First week of September, my roomies, my son, and I are going to Great Wolf Lodge, pretty much an indoor water park and hotel. The week after, my manager is taking a vacation and I get to run the store in her absence. HOPEFULLY! Fingers crossed that my district manager lets me?

So yeah, I'm pretty excited.
With my next two days off, I'll be attending one of my best friend's wedding!, and go see my baby cousin again. <3 :)


http://www.nicumomssupport.com/

The above link is to the pre-mentioned best friend's blog! She's all about premature babies, after having her own preemie who I'm proud to call my nephew. :)

And below is a picture of Baby Kaiden. :) My newest little cousin. <3

 

 

This weekend, I will also be posting more about PKU and started posting about Asperger's Syndrome. :)

 

As always, thanks for reading!

<3

August 1, 2013

Hello all!
Today started with me actually being very lazy. I slept in, which felt so great, and just laid in bed for another 45 minutes after waking up. I finally got up to get ready for work and dropped my Kaiden off at my parents' house and headed to my dad's shop. It is honestly quite boring here sometimes. It can get kind of lonely. There is my dad's secretary and I enjoy talking with her...but then I never get stuff done. Today, my goal is trying to tackle the task of organizing the parts room, writing orders for parts, labeling more things, and trying to get rid of a mess of filters in the shop area that my dad has been bugging me about for over a month now.

Pretty exciting stuff, yeah?

Part of my job for my dad is to make sure my Grandpa has his pills. Today, I went to go fill a new weeks worth and found him sleeping in bed just a little before 11am. This is kind of unusual for him...and has me a little worried. He is currently in a nursing home since he can't exactly take care of himself entirely. He is one of their most independent residents and does not need much assisting, but needs enough assisting that he can no longer live by himself and take of his own self.

Two years ago, his wife of 50 years passed away. She was wonderful woman! She was very much loved by everyone she has come into contact with. A very Christianly lady who loved everyone and always saw the best in all. Her funeral brought many, many people and I miss her so incredibly much each and everyday. If I miss her this much, I can't imagine how much Grandpa misses her. She was the love of his life.

I could honestly go on and on about my Grandmother and all that she has done...but that will just have to be a post in the future.

She would have turned 80 years old two days ago on July 30.
<3

Later!
<3

Nights when I can't sleep.

Ever have those nights where you are laying in bed trying to sleep...but thoughts keep running through your head and won't shut up so you can get some shut eye? Tonight is one of hose nights. I'll feel so tired but when it comes to actually closing my eyes to fall asleep...I just can't. I have so many things running through my mind. Today was my very rare day off from both jobs in the middle of the week. I was so looking forward to spending much of the day in my room. But that is far from what happened.

Around 8:30am I took my roomie and a best friend to work down the street. Conveniently her work was right next to a Meijer so I figured I would go in and find something to bring my newest baby cousin. Couldn't find anything I really liked in a decent price range, but did run into another best friend. 

(I will explain right now that I do have 6 friends that I consider to be my best!)

Tay and I chatted for a bit as she worked and I finally left her in peace (lol!) and went home to get ready to visit my cousin Alex's new baby boy. Note this now...I leave my house about 10:30am. 

I go to Once Upon A Child and find very cute clothes for baby Kaiden. (First double name in my large family)

I get to the hospital about 11:45ish and stay until about 2:45. I did not want to stop holding the precious little boy. :) 

After the hospital, my dad calls and needs me to run some parts to his mechanic that is about an hour south of us..making it a two hour trip. NOT how I wanted to spend my day off...working. On my trip back, I talked another best friend and she was having trouble being able to get the things she needed for her wedding that is THIS Saturday. (EEK!) :) I spent a few hours with her and did not get back home until a little after 9:30. 

I had a very active day. But I am glad that I got to see some important and wonderful people and speak to two other best friends via phone and texting today as well. All I needed to do was talk to Jackie somehow and I would have talked to each of my best friends all in one day. That, readers, is a rare occurrence. 

Well now that I have been able to vent out some of those racing thoughts...I suppose I should try and get some shut eye. 

Good night, all! 

Thanks for reading.

<3

The introduction to Phenylketonuria

Hey everyone!

I just want to start out my journey of blogging with a topic that is very dear to my heart: Phenylketonuria. As I have mentioned in my first post, my 13 year old brother has PKU. I feel that it is important for as many people as possible to know and understand PKU, as anybody could be a carrier of the gene and not know it until their child is born with PKU. My family has never heard of the disease until my brother was born and sent us through a blind journey.

Phenylketonuria is an autosomal recessive genetic defect that affects in 1 in 10,000-20,000 in the United States. If untreated, PKU can lead to brain damage. There is no "cure" for PKU...it is a lifelong disease and is treated with powdered formula mix and dietary restrictions.

Max drinks his formula through a sippy cup/water bottle because, to be very frank, the formula STINKS. But it's where he gets his protein from. My brother has the most severe type of PKU that is called Classic Phenylketonuria. He can not have meat or a lot of dairy products. He has to watch his Phe levels in all that he eats. If he has too much Phe in his system, he will have the biggest mood swings and attitude I have ever seen.

I can NOT stress enough how important it is to control levels of Phe beginning at an early age.

That is as far as I'm going to go for tonight. It's getting late for me and I have work in the morning! I hope everyone has a good night and hope I have sparked enough interest in learning more about PKU.

Thanks for your time!
<3

Here is a picture of my baby brother and I!