Living With PKU: Season of Change

As all of the returning readers can see... We have a whole new look!! That comes complete with a whole new NAME!!

You all can read my reasoning behind the changes in my last two posts. I don't think it is necessary to repeat myself again. Along with the new changes, I am going to be writing more about my life, not just PKU. PKU does affect every aspect of my life... But it doesn't take up my whole life. The new name is LIVING WITH PKU, so I am going to be writing about how I live, PKU and all.

I have introduced my self before, but since we are starting fresh I will do it again.

My name is Laura. I am 23 years old, and I am living with PKU.

I was born in 1991 and as a result from my newborn screening test, I was diagnosed with Phenylketonuria, or PKU, when I was 3 weeks old. Neither of my parents knew what PKU was or had ever heard of it. They were quite shocked and confused when they got the call telling them of my diagnosis.

My brother Rodger and me.

These are my parents, Rodger and Dena.

My parents were told that since I had it, both of them were carriers of PKU. They were told that somewhere in our family history someone from each side had to have had PKU. They went as far back as they could on each side of the family to see where the gene came from and both came up empty handed.

SIDE NOTE: I believe it was God's Will for me to have PKU and there would be no trace of it in my family history.

My parents were very good at watching my diet. I was, what they now call, hyperphe. The doctor told my parents that I was on the very mild side of this disease. I could even have a slice of cheese a day when I was a toddler!! That was very rare, according to my doctor. My parents watched my diet closely, except when I would sneak cheese by biting off the little corners of the block. Tehehe.

I grew up pretty normal, I would say. I went to public school all the way to graduation, with the exception of my 3rd grade year. I was homeschooled my 3rd grade year. My mom would pack me lunches normally. On the rare occasion I had school lunches, they had low protein options for me. When it was grilled cheese sandwich day, they made a special sandwich for me with only one slice of cheese in the middle and they would set it aside for me. (The perks of growing up in a relatively small town.)

I did great staying on diet until I started playing sports in middle school. I started off in 6th grade running cross country. I was fine with my diet through that. The hard part was in 7th grade when I started playing basketball. I was working out so much at practice that I was hungrier than ever! Low protein food didn't fill me up for long, so I started eating more protein filled foods without even a second thought. That is also when I stopped taking my weekly blood spots.

My 7th grade year I played basketball and ran track, then in 8th grade I added volleyball to the mix. That's when things started getting bad. I was eating protein and not counting my intake. I wasn't on diet at all. It was so easy to fall away from the diet. I didn't think about what I was doing to myself, and it was hard to notice how far from being on diet I really was with everything going on in my life.

In 8th grade, after spring break, I noticed a weird rash in the folds of my arms. It itched and burned so bad!! I asked my mom to take me to the doctor. We went to see my pediatrician. He ruled out an allergic reaction since I hadn't used any new products. He said the only thing he could think of was eczema. He gave my mom the name of an over the counter medicated lotion for me to use. I used it as instructed. The lotion helped, but never cured it. After awhile, it sort of went away.

In high school, I continued living off diet. I still saw my doctor and metabolic specialist, but didn't really take into account what they were telling me I should do. In my mind, I wasn't eating too far off the diet. I wasn't eating meat or drinking much milk, but I didn't take into account how much protein I was eating.

I graduated high school in 2009, the same year I started dating my now husband. I tried explaining my PKU to him, and of course he had questions. The thing that should have been an eye opener to me then but wasn't, sometimes I couldn't answer his questions. I had no idea how much I didn't know about my own condition. I look back now and can't believe how dumb I was being. I didn't know the answers to these questions but I didn't try to find out.

I started college in the fall of 2009. Being a typical busy college student, I had "no time" to try to keep up with my diet. I would go to class, come home, study, but I could never retain any information. I couldn't figure out why. I figured I just wasn't the college type, so I dropped out, moved back home and got a job.

In the winter of 2009, my weird rash came back. But this time it wasn't just in the folds of my arms. It was on my arms, chest, stomach, neck and face!! I went to my doctor and he ruled out an allergic reaction. He gave me a cortisone shot and told me to take Benadryl until it went away. After a few days it disappeared. Only a week later it came back, and WORSE! I went back and he did the same treatment. This time it went away, and only came back in the folds of my arms, so I didn't worry about it and treated it like eczema.

In July of 2010, my boyfriend proposed!!

And on February 26th, 2011 we got married.

You can't tell I like my wedding pictures, can you?

As we adjusted to our new life, being on diet was the last thing on my mind. We moved 165 miles away from our home town. But after 8 months, we were home sick and since things at my husband's job were going sour, we decided to move back.

After almost a year of marriage, in January of 2012, we started talking about when we wanted to start our family. Since I was told from a young age that having biological children wasn't an option for me due to my PKU, I thought our only option was to adopt. I decided to go online and research the possibilities of having healthy children and was amazed at the number of women with PKU had normal and healthy children!! I called and made an appointment with my specialist, who by this time I hadn't seen in over 5 years.

My husband went with me to this appointment. He had so many questions that I couldn't answer and he was excited to finally learn more. At this appointment we found that there had been more discoveries and learned more about the affects of PKU.

Apparently, my rash, that I had multiple times, was due to having too much protein. It was explained to us that the protein had no way of getting out of my system, so it kept circulating through my body searching for a way out, and eventually it would turn itself into oil and get out through the rash on my skin. My not being able to retain information in college, my protein levels were too high and affecting my memory. My foggy mind, my moodiness, my memory issues, my lack of quick thinking... yep, you guessed it!! It was because my protein levels were through the roof!!

In researching the possibilities of having children I came across this thing called Kuvan. So I asked my specialist about it. She explained that is was pharmaceutical BH4, which is the amino acid in the liver that breaks down protein. She told me that Kuvan was like a huge vitamin for my liver, that it would take the amino acids that my liver already had and makes it work better. She told me that some people don't respond to this medication and that there was a trial phase. She set me up to do the trial, but first she wanted to see how serious I was.

In February of 2013, I met with someone from Biomarin, the maker of Kuvan, to start my trial. She flew from San Francisco, and met with my husband and me at our home. It was a very interesting and great experience to see how much the company actually cares about the patients.

I started taking the medication thinking it would take the whole month of the trial phase to see if I was a responder or not. It didn't take that long at all. We found that my body responded within the first 48 hours! The rest of the month was spent finding out how much my tolerance had gone up. We found that my tolerance had gone up from 12 grams of protein per day to 35-40 grams per day!

I stayed on my Kuvan, and in June of 2013 I went to see my specialist again. This time she told me that since my levels were stable for the first time in my life, my husband and I could start a family whenever we wanted. I was SO excited to hear that!

On July 2nd, 2013, we found out we were pregnant!! I tracked my protein intake and continued to take my Kuvan. Everything was going well and in November 2013, we learned we were having a little girl!

My levels started dropping dramatically in my third trimester. I tried talking to my specialist to see what I should do, but she wasn't really giving me an answer. So I decided to start drinking 2% milk to see if that would bring up my levels. It did. I also cut my Kuvan dosage in half. By the end of my pregnancy I was drinking 24oz of milk per day, plus eating 35 grams of protein!

On March 11th, I was induced. And on March 12th, 2014 at 4:30am my daughter was born.