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PKU is a rare genetic condition in which the body can't break down phenylalanine. There are four levels of PKU. The reason why the body can't break down phenylalanine is because of a mutation in an enzyme called PAH or phenylalanine hydroxylase. There are many physical, intellectual, and neurological problems that occur if it's not treated. There is no cure for PKU, but it is a treatable disorder. There are specific diets that those who have PKU must follow throughout the entirety of their lives in order to lead a normal life. They must avoid food with a lot of protein in them and must make sure to take the phenylalanine free formula.

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At first, Lillian seemed to be a healthy baby, but later on they got a call saying that she has PKU. She had to go on the special diet for those with PKU. It mostly consists of fruits and vegetables and the phe-free formula. She has to avoid anything that has a lot of protein in it. Each person goes on a slightly different diet depending on what level of PKU they have. Some states don't have PKU coverage which makes it hard for some families to get the treatment they need since it's so expensive. It was frustrating for her to have to explain why she eats what she eats, but she is thankful that it's a treatable disorder.

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By Lillian Rodriguez, Special to Everyday Health
When I was born, my mother thought I was an angel. Her angel became modified with "perfect" the first two weeks home from the hospital, when I was so quiet and peaceful, you would have hardly known there was a new baby in the house.

Then Mom got the phone call that would forever change both of our lives. The doctors told her I had Phenylketonuria (PKU), and I had to come back immediately for a second blood test. My mother first assured them that they had the wrong baby, then she took me back to the hospital.

The second blood test confirmed I had PKU, a rare genetically inherited metabolic disorder. The doctors and dietitians put me on the PKU diet and sure enough I began to scream and cry like a normal baby.

Having PKU means my body can't break down the amino acid phenylalanine, found in foods that have protein. Since I can't break down phenylalanine, it builds up as a poison to my body, eating away at the protective covering around my nerves. If it goes untreated between the ages of 1-3, PKU causes mental retardation. If I went off diet now, as an adult, I would have nerve damage leading to schizophrenia among other things. You can imagine why my mother, a geneticist by training who already knew the ramifications of a diagnosis of PKU, would initially refuse to believe I had it.

PKU was only discovered as a disorder in 1960, so when I was born, the oldest living person who had been diagnosed with it was only 30. There were literally no examples of successful, powerful people in their 30s, 40s, 50s, who had PKU, because they were all mentally retarded. In fact, even early on in the 1960s, 70s, and 80s, after PKU was discovered, it was widely believed relaxing or going off the PKU diet after the age of 6 was acceptable.

Later they realized going off the PKU diet--at any point--caused mental illness, violent mood swings, a lower IQ, declining academic performance, and an all around inability to reach one's full potential.

The PKU Diet

Phenylalanine is found in foods high in protein, so I have an extremely low protein diet. I cannot eat meat, cheese, yogurt, eggs, milk, nuts, or beans. It's possible I was such a quiet baby before my diagnosis because I was being poisoned by my mother's high protein breast milk.

Each person with PKU has a slightly different diet based on what their phenylalanine (phe) tolerance is. I have a slightly higher tolerance (atypical PKU), which means some small part of my enzyme that breaks down phe works, so I can eat limited amounts of bread, pasta, and rice. Those who have Classical PKU have a lower phe tolerance and can't eat bread and pasta, instead they eat substitutes made from starch. Fruits and vegetables are basically unlimited foods for all people with PKU.

Then there's (what I like to call) our shake. Everyone with PKU has a prescribed amount of daily shake intake. I need to have 18 scoops of Phenyl Free 2 mixed with water each day, and luckily I love it. This shake (or formula) completes my diet and provides me with a lot of important vitamins and minerals, as well as the basic vital components phenylalanine breaks down into such as the amino acid tyrosine. This shake allows me to be a fully functioning human being, no exaggeration.

I have never gone off diet. I graduated from New York University, Tisch with honors three years ago, and I've been freelancing as a dues-paying actor, writer, and model in New York ever since.

Living with a Rare Disorder

Though I love my diet and my shake, having to explain my disorder to others sometimes makes me defensive. Every time I sit down to eat, the person across from me will inevitably take one look at my plate and tensely or curiously asks "Are you a vegetarian? Vegan?" Often I want to simply say yes to avoid going through my whole spiel, especially when I'm hungry and want to dig into my meal.

Nowadays being considered vegan or vegetarian is cool, but it wasn't easy being singled out like that when I was growing up and attending school. For all of us with PKU, it takes guts to explain how different we are to our peers. It takes stamina to repeat the same story to new acquaintances for decades. It takes patience to put up with things like people asking, "Why don't you try going off the diet to see what schizophrenia is like?" Yes. This is actually a question I've been asked. Many times.

When someone's reaction to my PKU is to pat me on the head or hand and say, "Oh you poor thing, you can't eat anything", I want to say, "Actually I can eat plenty! The PKU diet is remarkably close to the healthy Mediterranean diet, and happily my veins aren't clogged with pig fat." Instead I simply--and cheerfully--say, "Well I don't know what any of it tastes like anyway, so I don't miss it," which is also true.

Besides, there are plenty of reasons to pat someone with PKU on the hand and empathize, none of them related to diet. Rather, it has to do with how difficult it can be to get the appropriate care for the disorder. In the United States, insurance coverage is different on a state by state basis, which makes it really hard and expensive for those who live in a state without PKU coverage. Each time I get new insurance, it's a hassle to get them to recognize the medical necessity of my shake. Having this rare disorder can be a huge administrative headache.

Sure, I feel defensive and frustrated sometimes, but I'm grateful for my experience as a person with a treatable disorder. I know I'm one of the lucky ones. Oftentimes doctors will refer to PKU as a disease, but I beg to differ. PKU is a disorder, something I live with but control: a part of my body doesn't work quite the way it should, that's all. Moreover, thanks to Dr. Ivar Asbjorn Folling and Robert Guthrie, these days we know how to fix it. Thanks to my doctor and nutritionists at Mount Sinai Metabolic Clinic, I get my blood tested for my phenylalanine level every couple of months and stay on track. Thanks to my Mom keeping me on diet as an infant, I'm not mentally retarded. Thanks to being born in the United States, I was screened for PKU at birth and put on diet. And thanks to my living in New York, my health insurance currently covers my expensive shake.

That's a lot to be thankful for.

I'm not diseased. I'm healthy, happy, and grateful.

Lillian Rodriguez is 24 years old and lives and works in New York City. She's a proud member of acting unions SAG-AFTRA and AEA, in addition to the organization New York Women in Film and Television (NYWIFT). She acts in theatre, film, new media, and standardized patient work in New York. She also regularly blogs as a member of The Annex Press. Lillian is very active on social media and would love to connect with readers on Twitter & Facebook. //lillianrodriguez.weebly.com

Photo Credit (Top): V.K Rees

Photo Credit (Bottom): Michael Bernstein
Read more stories of struggle, strength, and survival on Everyday Health's My Health Story column.
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My Diet Isn't About Weight, It's About Not Getting Schizophrenia: Living With PKU

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By Lillian Rodriguez, Special to Everyday Health When I was born, my mother thought I was an angel. Her angel became modified with "perfect" the first two weeks home from the hospital, when I was so quiet and peaceful, you would have hardly known there was a new baby in the house.

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This video briefly explains what PKU is and what could happen if not treated. Those with PKU should always stay on the diet.

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Amazing Unidad de dolor del Hospital Sant Joan de DÃ

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Almost 50 years after newborns in the United States started being tested for PKU, a genetic disorder that requires a special diet, no one knows how many of those babies are still on a restricted diet as adults. It's a critical question for pregnant women who were born with PKU.

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When Caroline was born, she looked healthy, but a few days after her birth, her mother got a call telling her that Caroline has tested positive for PKU.They were given the phe-free formula to feed Caroline. They had to follow a strict diet and carefully weigh out every single portion. Buying food that are for people with PKU is very expensive. Caroline will have to eat the certain foods for those with PKU and the phe-free formula for the rest of her life.

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Amy and Steve were very excited about their first child. She had a healthy pregnancy and every ultrasound showed a healthy, growing baby girl. On February 21, Caroline joined their world and made them the family they always dreamed of. She was perfect - "10 fingers and 10 toes," Amy said beaming with pride.

Caroline was three days old and Amy wanted to get out of the house for a little while, so her mother took her to Target for a quick break. As they walked through the parking lot, Amy's phone rang. She saw that it was the pediatrician's office and assumed they were calling to remind her of Caroline's first visit scheduled for the next day. Amy answered, "Hello?" The person on the other line sounded very serious and exuded urgency, "Amy, your daughter's newborn screen showed positive results for PKU. You need to take her to the University hospital immediately." Amy stopped in her tracks. What did this mean? What is PKU? Was her baby going to die? The person on the phone gave no further information but continued to urge her to get Caroline to the hospital for testing. Amy quickly became hysterical. She called her husband and told him to meet her at the hospital with Caroline.

Once they arrived, the doctors ran additional tests on Caroline to confirm that she did have PKU (Phenylketonuria), a rare metabolic disorder that causes severe irreversible mental and developmental disabilities if not treated from birth. Amy and Steve were terrified. "No one in our family has this. We have lots of nieces and nephews and none of them have it," Amy told me. The doctors gave them a can of the PKU formula and told her not to use it until they knew if Caroline did, in fact, have PKU. Amy and her family went home; the doctor said he would call by 7:00 that night. They waited.

Finally the call came. The tests confirmed that Caroline had PKU. "We cried a whole lot that night," Amy said. "I held Caroline all night - I never put her down. She slept in my arms." The next day was Amy's birthday. What would become a gift, her mother gave her advice that she thinks of every day. "She told me I had to put Caroline down," she giggled. "She told me that we are her greatest advocates. This was our new normal and I had to start living it." And that they did.

PKU is an inherited disorder that causes a person to be unable to process a specific part of proteins called phenylalanine which is present in most foods. Without a closely monitored diet, phenylalanine (or phe, as it is casually called) will build up in the blood stream causing severe brain damage. Because protein is crucial for growth and development, special phe-free formula is given from the point of diagnosis. Individuals with PKU will need to drink this formula for their entire lives to continue to get the necessary protein they need. They will have to stay away from meats, grains, flour, soy products, fish, dairy, and beans; aspartame, the artificial sweetener commonly sold as NutraSweet and Equal, is also forbidden as it contains high levels of phe (so no diet sodas for those living with PKU). The PKU diet is mostly fruits and vegetables, and all portions have to be carefully weighed out.

Caroline started the PKU formula immediately. Fortunately, Amy was able to give her baby breast milk as she had intended; only now it was pumped and carefully measured. It couldn't be Caroline's exclusive sustenance.

Despite weekly blood tests and special formula, Amy admits she was in denial for those first few months. Then she started thinking about Caroline's future - PKU was going to be part of every single aspect of her life. "What was I going to do when she got invited to her first birthday party? I would have to make her a special cupcake. And what about dates when she gets older? And holidays? And vacations?" Suddenly it was very real.

When Caroline was just over five months old, her pediatrician and dietician told Amy it was time to start introducing solid foods. They would introduce one food a week and closely monitor Caroline's blood levels to determine her tolerance for phe. First was applesauce because apples have the lowest amount of phe. Next were carrots and then squash. She could have a certain amount each day and not any more.

Amy and Steve work closely with a dietician, like all parents of a PKU child, to craft a diet. All of Caroline's food needs to be carefully weighed. "Preparing a meal for a PKUer is very detailed and much harder than preparing a regular meal. That is why parents are so hesitant on leaving their child with anyone for an extended amount of time."

Amy and Steve both work full-time jobs, so childcare was a major concern for them. Caroline goes to an in-home daycare. "Our daycare provider is wonderful. She took the time to understand Caroline's needs and restrictions. I send a notebook with Caroline every day - they have to write down every single thing she ate that day and they are not to rinse or dump anything out. I need to know every bit of what she ate." Amy explained that there are days when the daycare provider will write that Caroline drank five ounces of milk, but when she sees the bottle she realizes it was only four and a half ounces. "It has to be that specific."

As Caroline gets a little older and can eat more types of foods, Amy looks to purchase prescription foods made especially for people living with PKU. "I'm a terrible cook," Amy admitted. "Buying these prepared foods is really my only option to give Caroline some variety in her diet. We want her to have some sort of normalcy when growing up." The cost of these foods is exponentially higher than the equivalent non-PKU foods. "An 8.8 ounce box of her pasta costs $11. A package of three of her little pizzas are $20." (By comparison, a typical box of pasta is generally 16 ounces and costs under $5 depending on the brand.) "When this all began, we realized we needed to start a wedding fund, a college fund, and a food fund. People laugh when I say that, but it is not a joke." Affording PKU foods is a struggle faced by many PKU families.

Amy and her family live in Missouri where state law only requires insurance companies to cover PKU formula and foods until the child is six years old. "The old thinking was that by six a kid's development is far enough along that they cannot become mentally retarded from PKU. Now we know that even if they cannot regress into that severe state, there are still very serious complications that can happen if they go off the diet." She told me that if Caroline strays from her diet, she could begin having seizures, develop ticks, and other serious symptoms. "PKU never goes away. Caroline will need this food and the formula for the rest of her life and I don't know how we will pay for it. We'll probably have to move to another state that does mandate coverage." While they once longed for a family with three or four kids, having more children with PKU would put an unfathomable financial strain on them simply because of the cost of food. "We'll at least have one more somehow." Amy and Steve have a 25% chance of passing PKU to all future children.

Amy knew of newborn screening prior to giving birth and remembers the nurse telling her it had been done. She said she thinks about that little heel-prick often. "Newborn screening saved my baby's life. I think daily about what our life would be like if we never had that test. I am so grateful." In retrospect, Amy knows that if the nurse hadn't told her the screen had been done, she never would've remembered to ask if it was. "I know that there are other parents out there that just leave everything up to the doctors and nurses. While I know that newborn screening is mandated in every state, I just want to make sure parents out there get educated about how important this screening really is. Parents should make sure the test was done before they leave the hospital."

As she told me her story, she never once got emotional (although I cannot say the same). "I would never say this is a burden. It is hard, but I wouldn't trade it for the world." She goes on to say that it does make her sad to see her friends handing their children anything they want to eat. But despite their offers, she insists that she does not want them restricting foods or changing their behaviors out of respect for her. "Life is going to be hard for Caroline and she needs to know that... We want her to know that PKU doesn't define her, but it will always be a part of her. We intend to raise a strong girl who can handle it."

I told her how inspiring she is to me as a mother and she said, "You would do the same thing." She's right. She's a mom doing what moms do best - caring for her baby.
Caroline's newborn screening test was completed by the Missouri State Public Health Laboratory.

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Amy and Steve were very excited about their first child. She had a healthy pregnancy and every ultrasound showed a healthy, growing baby girl. On February 21, Caroline joined their world and made them the family they always dreamed of. She was perfect - "10 fingers and 10 toes," Amy said beaming with pride.

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When Katy was born, she didn't have a PKU screening and went undiagnosed. There seemed to be something very wrong with her since the beginning, but they didn't know what was wrong.  She missed many milestones and had seizures. She went through many tests until they finally found out that she had PKU. They started to follow the PKU diet as soon as they could and she seemed to slowly start to recover. She still has to live with PKU, but it isn't affecting her as negatively as it used to when she wasn't being treated.

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My name is Michelle and I have a daughter who was diagnosed with PKU at thirteen months of age. We are missionaries in Mexico which is where my daughter, Katy, was born. PKU screenings were not standardized in the country, and she went undiagnosed as we left the hospital with our bundle of joy.

Things seemed to be wrong since the very begining, Katy was in constant pain and cried most of the time. I was breast feeding, and thinking that perhaps she was intolerant to spices and dairy, I kept my diet to rice and dry chicken breasts. Katy developed a umbilical hernia, and a few months later dislocated her elbow (due to low muscle tone). Her hair began to lighten and she slowly drifted away from us.

It was at six moths of age when things started to get real bad. Not only was she missing her milestones, but she was losing the ones she had accomplished. By the time Katy was eight months old she could not roll over, reach for a toy or even hold her head up. Then, her seizures started.

It took a while to identify her seizures, because they weren't the "typical" grand mal seizures one would expect. They were infantile spasms, or west syndrome which manifest in the form of short spasms, very much like the kind newborns do in the middle of their sleep. After a few months, they became worst and we started to worry. Having seen a whole team of doctors, we wound up in a neurologists office- where Katy was diagnosed with epilepsy. Not just any epilepsy, but West Sydrome and a 95% chance of brain damage. The search for its cause began.

It was five in the morning when it all sunk in for me. My husband and I harldy slept as we cried together for the lost future of our only little baby. We had planned and hoped for so long! We had waited through a horrible infertility crisis. I nearly lost my life giving birth (emergency stroke operation was done one me). Katy was our world, our life, our herriatage! All we had strived for with sweat, tears and blood- was now being snatched right from under us and there was nothing we could do to stop it. All we could do was stand over her crib and watch as she convulsed yet again.

Then my husband made a stand. We would not bow our heads in defeat. Our daughter needed us to believe in her. Her future depended on it. She was not just another number or another statistic. Katy was as unique as her figerprint. And we would carry her through and out of this mess.

Many tests were done and much blood was drawn. My little trooper turned into what seemed like a science experiment. After many months, we were down to our last two options: an aplified amino acid test and a mithochondria biopsy. We did the first of the two- which proved a positive for PKU. It was relieving not to do a muscle biopsy on our little angel. We set up an appointment with a genetisist in the US. In the mean time, we starved our daughter for a week, until we could get our hands on some PKU formula.

Katy's phe levels were at 19. Much too low for epilepsy, according to the genetecist. He assumed her condition was much worse than a classic case of PKU. Co-factor deficiency tests were run. There had to be something else provoking the epilepsy.

"Your daughter may not even walk by the age of 5," the geneticist informed

The world spun right under my feet. I had to hold on to a desk for balance. Even then, in that aweful moment, I clung to my faith. No matter how hard, I would not lose hope. I had promised that to my husband. To Katy. To God.

The formula finally arrived. It tasted aweful to my daughter and she hardly drank any of it. I was crushed. It was all the food I could offer her. It was precisely then that her blood tests were taken. The genetisist was confused. There was no co-factor defficiency. For a one year old with an unrestricted diet (chicken, rice, beans, milk, oatmeal and more), Katy's levels were much too low for CPKU. What was even stranger was that her tyrosine levels were twice as much as she needed them to be.

"I dont understant why," her genetecist said "but there seems to be some kind of battle going on in her mind. High levels of tyrosine are protecting her from the high levels of Phenyl alanine."

What came later was even more astounding. Katy's epilepy simply vanished. It got wiped off the map. The neurologist couldnt explain it. He said that this form of epilepsy, even if controlled, would still manifest on an EEG until childhood. Katy's brain showed no evidence of having ever suffered from epileptic seizures!

After that, Katy begun to catch up. Each milestone led to another- and another, Today, she is two and a half years old and we are in the process of looking for a school for her. She is still a bit delayed, but watching her grow. Seeing her strength and determination, there is no doubt in my mind that Katy will come out of this with flying colors.

As of today, she walks, runs and understands and follows instructions. We're still waitng on the speech, but don't worry. That will come too. She is happy and engaged and has a mind all of her own. I used to feel sad about her genetic mutation, but then I realized: if chromosome 12 been composed of a healthy PAH gene, she would have been a different child. It took this precise genetic combination to make up who she is.

Miraculous Strong. I'll keep you posted. www.michellehays.blogspot.com www.katyhays.blogspot.com www.youtube.com/michellehays Unique.

her conception story----> http://www.cci.org.mx/index.php?option=com_content&task=view&id=123&Itemid=51

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My name is Michelle and I have a daughter who was diagnosed with PKU at thirteen months of age. We are missionaries in Mexico which is where my daughter, Katy, was born. PKU screenings were not standardized in the country, and she went undiagnosed as we left the hospital with our bundle of joy.