We need your Voice!

Important decisions are being made in Washington regarding the future of PKU medical food coverage! Please help us and Take Immediate Action!

How You Can Help Now: (...and really, it takes just a moment!!!)
We need everyone to submit written comments to HHS asking them to (1) Ensure that EVERY state’s essential health benefits plan provides coverage for medical foods for the treatment of PKU under the chronic disease management category; and (2) ensure that people with PKU are not discriminated against based on their disability by denying coverage of medical foods. Representatives from the NPKUA recently met with HHS on this issue, and HHS urged us to have as many people as possible submit comments on the new regulations. (Feel free to cut & paste these 2 points and personalize them into a request!!!)

HHS recently issued a set of regulations regarding the essential health benefits for the health insurance exchanges, leaving the decision to each state to select its own essential health benefits. This means that our state may or may not include coverage for medical foods to treat PKU, and even if our state will include coverage for medical foods, it may not be permanent. We need your voice!

HHS will only accept comments through December 26, 2012, so please act quickly!

Click the link to submit your online comment TODAY!
http://www.regulations.gov/#!submitComment;D=CMS-2012-0142-0001

Thank you for taking the time to send your message to HHS!

Here is what I wrote:

My Daughter Breeze Porter is 14 months old. She was born with a rare metabolic disorder called PKU. This disorder was diagnosed by the mandatory new born screen heel prick when she was two days old. Breeze's body does not break down protein like the rest of us and if left un-diagnosed she would have become brain damaged by the build up in her system. Thanks to the test, we caught it early and she will go on to live a normal life, but she does require a special diet. Although by law we were required to find out she has this disorder, it is not the law for insurance to cover the cost of her medically prescribed food and formula that she is required to eat/drink for life. The cost of low protein food is not the same as what I would buy for myself at the grocery store. A loaf of lo-protein bread is $15.00, a bag of lo-protein pasta is $10.00! In order for Breeze to grow up healthy and be a contributing adult she has to have this special diet, with out it she could be costing our county hundreds of thousands of dollars by needing to be institutionalized. This country has done a good job taking care of our newborns by mandating the newborn screen, but not taking complete care. By not mandating the coverage of the medically prescribed food they need based on the results of this test. Please do what is right for this small but significant group that needs your help. You are the only ones who give us a voice that is heard. Thank you for your time.

Seriously how can you not copy and paste for this sweet face!

This girl can eat!

Adjusting to what Breeze can and cant eat has been slightly difficult for me at times. Processed food, what? Cheese like food, gross. I find myself thinking, "well that looks too healthy, she probably cant have that."Everything touts protein, protein, protein! Me get negative? Never!

So I have come to the conclusion(and a more positive one) everything I have control over, the food she can have, will be the best(to me that means organic, fresh, power foods). At around 10 months old it was getting difficult to get this girl full on just veggies and fruit, it was time to add lo-protein food(the filler) to her diet. It was time for carbs. So I bought some lo-pro pasta, crackers, cereal, made some bread, tortillas, pancakes, oh and she can have gluten free pretzels. I am blessed that Breeze loves to eat, but her food taste good, I make sure of that. I always try it first, if its not good to me, I am not giving it to her. I am not a picky eater and I like most things, but there have been a few things that she wont eat and I understand why!

Another thing is even if I have never had it, or know that I am not really a big fan, but its low in phe I offer it to her. One being sauerkraut,  Breeze would drink the juice if I let her! I also bought her some sea weed chips and she likes those as well! One thing I have found that it is easier to find sweet food for Breeze than savory/salty. So when I do find something in that area she tends to gobble it up. "Solids" was daunting to start with Breeze and took some work but I feel we are adjusting. 

Our dietitian has been great and supportive in allowing me to continue breastfeeding, and I have a great group that I am part of on FB and also a non profit organization called' Cook for Love' that has a ton of great PKU friendly recipes. I feel very blessed to be so connected to so many supportive Moms in the same situation even if miles are between us. I have connected with Three other PKU Moms in the Denver area with girls all around Breezes age that has been great as well.

Veggie Nuggets

Cassava Potato Latkes

Lo-Protein Bread

One Happy Eater!

Meeting friends

So today I went to the hospital to drop off Breeze's blood sample( that I drew from home! Hooray for Mom!) and met another PKU mom! She has a daughter Abigail who is the same age as Breeze. We sat and talked for a while comparing notes about eating, nursing, phe levels and such. It was so NICE! We talked about trying to start a PKU mom group. She knows of another Mom and so do I, four Moms is a good start I think! So gonna talk to Casey and see if there maybe is a room available at the hospital to use once a month or so? I will keep ya posted

Playing with a few of our friends

Mirror Fun!

Aww lovin her bestie

The Great Outdoors

Last weekend we went camping. It was Breeze's first time and she did great. Naps where a little bit of a struggle but she slept like a champ all night long in between Adam and I. It was not the hardest camping in the world with a camper trailer in a camp ground. But hey, you gotta start some where! It did make me start to think about back packing in to go camping when she gets older. Adam and I always use the freeze dried meals, they are so simple, good and easy. But packed with protein. So hmmmm what will Breeze do? This I will have to investigate further and possibly have a new business venture on my hands. Maybe I will talk to the cook for love ladies. It cant be that difficult to make a recipe and freeze dry it right? Anyone have any experience freeze drying food? To feed Breeze and keep track while camping was a little tricky and I must say I was not the best at it. Plum organic has these great pouches though that Breeze loves, but unless I weigh out portions, or she eats the whole thing I'm not sure how much phe she is getting. So I just gave her the mango and pear pouches that I know are low in phe. I think next time I will have planned meals and already have everything calculated and divided up.  Live and learn right?


We also went on a great hike to Mohawk lake just outside of Breckenridge,GORGEOUS! It was so nice to get up into the mountains.

Hiking with Dad above tree line

Mohawk Lake

Bubble time!

Its a family affair

There was also a very pretty waterfall!

Our Home away from home

One of those day...

Today has been one of those days where I wish I had another PKU mom friend to just talk with. It all started with my dream I had last night. I dont remember the details but the gist of it was basically the world as we know was ending and that included how I got Breeze's periflex formula. What would I do with out it? How would Breeze become if she didn't have it? These are very scary questions for me and this dream made me face one of my biggest fears. What if we could not get her formula? The "healthy" way I eat is not healthy for her, and today, that makes me sad and frustruated. I dont want to feel this way and I considered not sharing this post,but reality is, this is not always easy for me. Reality is, I get upset still, I get sad and it is hard. I have always wanted this to be a positive blog about PKU, but also I want it to be real. What is real? My daughter has PKU. There are lots and lots of foods for her to eat. She is really healthy and really happy, and,I have a very large basement to hold lots of periflex formula stores.


Side note

After reading this post, if you feel any sort of sadness towards me please feel free to read the post'Please dont tell me your sorry.';) I,just like any new Mom, have had one of those days. And I feel better after telling you all about it!

I'm Back

Back from what you may ask? No I have not gone on any fabulous trips as of late, I am back from spring craziness! Although I am no longer doing my garden maintenance business I did do a few annual jobs, four to be exact, to make some extra cash. So it may not seem like much but it took quite a bit of juggling. All the while squeezing in family visitors, brief couch surfers and normal house hold /baby duties. I am back(!) and today after putting Breeze down for her nap I actually thought to myself. "What should I do now?" I  didn't have a million things to do before she wakes up. Ok well there is laundry, but its down stairs and easy to ignore!
     In my last post Breeze was almost 6 months and we were about to leave for Florida for 10 days(yes it was as good as it sounds!) She just started to to eat solids. Well I am happy to say that Breeze eats all kinds if food! Anything I give her she eats, it truly is a blessing! Lets just pray that it continues.  I stopped giving her rice cereal cause she just didn't like it. I tried it, terrible stuff. So I switched to the oatmeal, which is good and started adding fruits to it. I follow the four day rule, a new food every four days in case of a reaction. So as of now she has had mango, blue berry's, banana, pears, peaches, yellow, acorn, butternut squash, sweet potato, roasted garlic(yes really), white potatoes, brussel sprouts, apples, cauliflower, So delicious coconut yogurt,avocado, prunes..I think that's it. I am always looking for something new, oh and cinnamon! Yes she ate it all and with gusto. Next on the list is beets! I have been using this great website called www.wholesomebabyfood.com tons of great information. 
       So giving Breeze solids is the same as starting any other baby on solids, as you can tell from the list. Although I am giving her the coconut yogurt instead of dairy. You don't see peas on the food list, nor will you. They are very high in phe and not even worth giving.  The goal right now is to give her 60 mg of phe a day from solids. I use my scale and I weigh out food for her meals and write in down in a log that I have. So for example for breakfast this morning she had 1 gram of oat meal(6.3 mg phe/g) 30 grams of mango(.17 mg phe/g) and 32 grams yogurt(.16 mg phe/g) So then I just calculate the grams times the amount she ate for every item and add it together to get her total phe for the meal. So that meal was 16.5 mg/phe so now we have 43.5 mg left to get from food for the rest of the day. Now one thing to remember is there are no emergencies with PKU, and if she is still hungry and she has had all her "allowed" amount from food, I don't cut her off. She leads the way in this journey, if she starts eating more I give her more and we bump up her allowable amount from food. Nursing and formula will  adjust themselves. But it is still very important(as it always will be) for her to drink her formula, and breast milk. So she gets that first.As you can tell it would make things more difficult if she was a picky eater or wouldn't finish food she has started cause I would have to recalculate.
        Since starting solids her levels have been with in range to even a little low. I am going to start doing the blood draws myself so we no longer have to go into the hospital. Over all Breeze is doing great. Her little personality is blossoming and she is very talkative and happy. She is so much fun and I am lovin every minute of it! I think I hear her now...chatting in her crib.

This and That

    So it has been a while since I have posted...sorry! But it is spring time and our lives always get busy this time of year. Breeze is doing great. Though her levels have been high the past two weeks, which is a bummer, but all we can do is up the formula intake and check again next week.  She is growing, and eating more and more. She is just about 17 pounds now and in 9 days she will be 6 months old! She is sleeping about 12 hours at night, yah! But she has always been a good sleeper. The weather has been amazing this spring so we have been going on daily walks outside. Breeze loves the carrier so I wear her all the time. I LOVE my carrier! The brand I have is Freehand, designed by a local couple, it puts her into a very comfortable sitting position which is  good for her hips, well I guess I should say not bad for her hips. We have also been going to this great indoor water park to go swimming. Breeze loves the water, but that is not surprising since her father does too! Breeze is getting very strong, she has lots of tummy time, and practices sitting on her own. Although she still just tips over so she needs a soft landing! She has rolled over, twice,and seems not interested in doing it again! We also have started using American Sign Language with her. Which is fun for us to learn as well! We are using the Signing Times series of videos.
    Today was a big day for Breeze, she tried rice cereal for the first time!  She did not think it was so exciting, she didn't know what to think actually. But I was excited for her.  She didn't seem to like her Johnny Jumper that much at first and now she loves it. So we will just give it time. Since she does not really eat that much of it I did not have to count it towards her phe intake for the day. I mixed it with formula, not breast milk. We have an appointment with Casey, our dietitian, on Monday to learn all about starting solids. I spoke with her on Friday and she said that I could go ahead and try the cereal over the weekend. So, more info to come about solids!
      So I have been feeling the need to interact with other PKU moms for a while now and finally I got in touch with one who lives in the Denver area! She is heading up the effort to start a PKU non profit here in Denver. So I am going to join efforts with her. She has a daughter who has PKU, she is 16. So I am excited to meet them. I willl keep you posted better I promise!

Going on a walk!

She loves it! Cant you tell?!

Only the best for this girl

She kept trying it!

New swing at Memaw and Pappy's!

Her new favorite spot

"Yah, I could roll over if  I wanted to....."

Super Baby!

Just Cute

Swimmin!

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?