Patient Power

   I found  a great website called Patient Power. It has a lot of PKU (and other diseases) information. There motto is "Knowledge can be the best medicine of all."  Not only is it educational but also it has a wealth of stories about people with PKU. Another thing that is really great is that you can watch the story, read the story or listen to the story. So for my husband who refuses to read, this is especially great! I just read an interview between a young adult with PKU and a doctor who specializes in PKU. Its called

 PKU: 4 Keys to the Foundation for a Healthy Life 

 It was a great interview that gave two perspectives on raising a child with PKU.

Results and other news

   Good News this week! Breeze's levels are back in the range we want them to be. Her Phe was a 3.6 and her Tyrosine was 2.8. So we will continue with the same amount of formula for the next week. Using 65 grams of Periflex formula adding water to make a total of 13 oz. This amount of formula has been pretty easy to manage. I have been pumping about 3 times a day. She has been finishing her formula in about 3-4 bottles.
 
    Big News this week! Breeze rolled over for the first time! She has done it twice and not again since then, but at least she knows she can do it! I also have joined an online PKU community through baby center and have made a friend who has a daughter with PKU! I had no idea how nice it would be to chat with another Mom who knows and understands the PKU talk. Her daughter started solids about a month ago and it is going great. She started with applesauce, which is very low in phe. So I am pretty excited about that. I was also just asking Casey, our nutritionist, about other PKU Moms in the Denver area and I guess there is a mom who has an older PKU daughter and she is starting a Colorado PKU group! So lots of great stuff happening just in the past week!

Please don't tell me your sorry

One of the most important things for Breeze is that we always stay positive about her PKU. Sure we may all struggle with it at some point, but we should never let her see or hear anything negative about it. She's is unique, not weird. Her food is special, not strange. When someone says," I'm diabetic" do you tell them your sorry? No. So please don't tell us or her that you are sorry either. PKU is nothing to be sorry about, it is just a different way of eating. That's it.

 Breeze is a very happy and healthy baby, not to mention CUTE!

A few good Quotes:


I believe that everything happens for a reason. People change so that you can learn to let go, things go wrong so that you can appreciate them when they're right, you believe less so you eventually learn to trust no one but yourself, and sometimes good things fall apart so better things can fall together.- Marilyn Monroe


"Life is too short to wake up in the morning with regrets. So love the people who treat you right, forget the ones who dont and believe everything happens for a reason. If you get a chance take it, if it changes your life let it. Nobody said it would be easy,they just promised it would be worth it."


'Dance like nobodies watching, Sing like nobodies listening, Love like you have never been hurt, Learn like you're going to live forever, Lead yourself as if everyone was following you, Give like your life depended on it and Live like you were dying tomorrow! "

Results are in

It seems her little growth spurt is over. When she has a growth spurt her body uses more phe. So her levels went up, her phe went from a 4.9 to a 7.4 and her tyrosine was a 1.9. So we bumped up her formula to 65 grams, adding water to make a total of 13oz. This is three ounces more than last week and 15 grams more of the formula. I will start this today when I make her new batch and we will see where we are next Wednesday.

A crazy thought....

My body is creating the most nutritional food Breeze is ever going to Get to eat. Wow. So if you see me someday breast feeding a five year old now you'll know why :)
Breast milk truly is liquid gold to me

" ...this is the way we check the phe, check the phe, check the phe..."

      Today is Wednesday. Blood draw day/ errand day.  The draw is almost always on Wednesday at anytime, she just can't have any phe, no breast milk, two hours prior. The tests are run on Tuesdays and Thursdays and take a couple hours to do and only like three people in the whole hospital are qualified to run the machine that test the blood for phe and tyrosine.Yes, my health insurance covers these weekly test, thank goodness. I have seen the bills and it adds up quick!Casey, the nutritionist calls me on Friday mornings with the results and tells me if there are any changes to how much formula she is getting.
     On Tuesday evening I begin thinking about the draw and trying to time her feedings based on what time I am going to be going to the hospital vs when to pump or nurse. So there needs to be enough formula to last her through  the draw but then I have to consider my timing of pumping to ensure if she gets hungry before 1pm I can nurse her. It's a juggling act, sometimes I drop all the balls. But most of the time it works out .
      So today i,t worked out.  At around 7:30am she nursed on one side and then around 8:30 she ate about 2 oz of formula. Then she went down for a nap. While she slept I did dishes, pumped and ate breakfast. Then when she got up around 9:30 we played, and got dressed she was not hungry and we still had about an 1 oz of formula to eat before 1. She went back down around 10:30 since her morning nap was so short. I finished getting ready and around 11:30 I put her in her car seat and we left for the hospital. The drive to Childrens hospital is about 30 mintues. When we get there I always park in the garage because it is free for patients. I pop her and her car seat into her stroller and we head into the outpatient lab, getting our parking validated along the way. At the front desk I fill out a sticker that has Breeze's name, birthdate and time, plus I write the   phlebotomists that I want. Kelly, Marissa or Justine. It is not Children's policy to let parents hold their children while they are drawing blood. To me this is ridiculous and I only go to these three because the let me hold Breeze. Gravity, hello? While waiting she finished up that last ounce of formula, about 30 minutes before one, just in the nik or time!When her name is called we head into the room and pick the opposite heel from last week. We place a special warming gel pack on her foot to warm it up, makes the blood run better. The phlebotomists runs the paper work and gets out her tools. I hold Breeze and she pricks her heel with this razor blade and then squeezes her heel until the tiny tube is full. Breeze no longer cries unless she is hungry or tired. She mostly just squirms making it difficult for all involved. Today she tried to look over her shoulder, as if to say "what the..." We may start drawing from a finger, but I am not to sure how I feel about that. She is always putting her hands in her mouth and people touch them and then she would have a open little cut..., we'll cross that bridge when we get there I guess. Then once the band-aid is on we head upstairs to get weighed. We either see Marevel or Amy. Both love Breeze and make her smile lots. I take off her clothes put her on the scale and then get her dressed again. Sometimes if I am curious we do a length measurement as well. After that If Breeze is hungry I either nurse her or give her a bottle, depending on what time it is. Today it was past one so she started on her new batch of formula, and another 24 hour shift begins

The front of Children's Hospital

This is Marissa, Breeze's eyes are glued to the TV!

The tools of the trade

Putting on the warming pack, eyes still in the TV

 

Drip by Drip

 

The tiny tube of blood

This is Marevel, she weighs Breeze

  

A boo boo

      

This part is a piece of cake!

The hall way to the weigh in we go to hall F
or where I sit afterwardsand feed her

When life gives you lemons, make lemonade

       I am the happy, fortunate mother of Breeze. She is the most wonderful thing that has ever happened to me.  Well, besides my husband Adam,without him there would be no Breeze(no pun intended!)
        Nothing about our parenthood journey has been traditional. We were unable to conceive the old fashion way. So with a little help from modern medicine we got pregnant on January 15th 2010(yes I know the actual date!). Breeze was born on October 9th 2010 after an amazing birth experience at Mountain Midwifery. We went in for the normal two day check up and Breeze had a little heel prick to take her blood for what is generally called the' newborn screening test'. Six blissful days later, the 'Happy New Mommy Bubble' was popped by a single phone call.
        A midwife nurse called to inform me that Breeze's screening for PKU had come back high and I needed to go to Children's Hospital that day to get a more specific test. I was holding it together pretty good until she told me this could interfere with breastfeeding. Until that day I had not heard Breeze really cry,the pain she felt broke my heart into a thousand pieces. One good thing about a blood draw is when they are over, so is the pain, I think that Breeze recovered quicker than I did though.  I'm not sure I will ever fully recover from learning that my child has PKU,  although she is and will be a perfectly normal child.

 I'm not sure I will  recover from the fact that I have a child who has a disease.

 I'm not sure I will ever recover from how blessed and lucky I feel that she has a disease that is treatable.
   
        I will never fully recover from the fact that God chose me to be this little girls Mother. Chose Me, the one who hates to do dishes, but will wash bottles and nipples all day long. Chose Me, the one who hates hospitals, but will take her there to get her blood drawn once a week. Chose Me, who is all about organic and non processed food, will make formula and processed lo-protein food for her and tell her"this is a "Yes Food" So, so far nothing about this journey has been what I would call the traditional experience, and I can honestly say now, I would not have it any other way.

With this blog I am hoping to be a source of information to my family and friends and possible other PKU Mom's about a day in the life of Breeze, our precious child who is made even more special and rare because she has PKU. With a little extra info thrown in as well. Enjoy!

Boy or Girl? We did not know...

What is PKU? Good question

PKU stands for phenylketonuria. Don't ask me to pronounce it cause I can't. PKU,for short, is a rare genetic condition that babies are born with and will have their entire life. Adam and I both had a recessive gene and had a 25% chance of having a PKU baby. No this is not something we knew nor did any of our family know anyone who had PKU in the past. So yes we have that same chance the next go round.

Breeze has what is called the classic case pku. She has an enzyme that is deficient and does not break down the amino acid phenylalanine (phe, for short) to another amino acid, tyrosine. Failure of this conversion results in a toxic build up of phe in her system. The deficiency in every child is different and so treatment is individualized. We have a nutritionist that I work closely with on a weekly basis. Once a week I take Breeze to the children's hospital and get her blood drawn from her heel, which by the way does not even phase her anymore.Then we go upstairs and get weighed. Two days later Casey, the nutritionist will call and give me Breeze's levels. One for her phe and another for the tyrosine. The goal is to have her phe levels be between a 2-6. A normal persons levels are at zero. Her phe levels at the time of her newborn screening they were an eight, a eight days later they were 34! The goal was to get her levels back into range as quickly as possible, within the first month of life. If levels are in check in that time then there is no brain damage that will occur. She was temporarily taken off breast feeding and put strictly on a phe free formula called periflex. This was so difficult for me. Adam gave Breeze her first bottle that day and I cried and prayed she would come back to my breast when she was allowed. She took to the bottle with out any problems and I pumped every time she ate to keep my milk supply up. Her levels dropped beautifully and with in a week and a half I was able to start nursing again. She came back to me with gusto! It still makes me sappy just thinking about it. So from then on we give her a prescribed amount of formula and then I breast feed after that with in a 24 hour time segment. We go from 1pm -1pm. PKU is not something she will grow out of. The amount of protein she is allowed to have is minimal, but there are lots of yummy options and alternative foods out there. Plus Mom and Memaw love to cook. She will have to drink a special formula her whole life in order for her to get all the other proteins her body needs as well as nutrients.  The risk for brain damage subsides as she gets older and more developed. But if her levels do get high when she is older, high being a 9 or something, it will be noticeable in her behavior. She could exhibit a number of behavior problems and be fuzzy headed. She won't feel good unless she sticks to her diet. Sounds kinda crazy but we have adjusted well. We will see how things go once we start introducing solids...I will keep you posted.
Any questions?