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Phenylketonuria (PKU)

Phenylketonuria (PKU). Seventeen Years and Going Strong. Kenneth Casey Allen “Living With PKU Part II”. What Is PKU?.

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Phenylketonuria (PKU)

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  1. Phenylketonuria (PKU) Seventeen Years and Going Strong Kenneth Casey Allen “Living With PKU Part II”

  2. What Is PKU? PKU is a condition in which a person cannot properly transform one kind of amino acid into a related amino acid, results from a pair of recessive genes. In related terms, the every day protein taken into the body cannot be properly processed through. Children are told what PKU is in a different way because of their lack in ability to comprehend the exact definition. Even today, they are still coming up with more to the definition of PKU. The following is what little children are told. “You were born with a special diet. Now, because the diet is special, you cannot eat what other people eat, you have to have special food. These special foods will help your brain grow so you can be smarter than what you think.”

  3. Is PKU Life Threatening? There are many people that come up to me when they’ve first learned that I have PKU and ask me, “Can you just suddenly die from it?” or “If you eat the wrong food can you die?”. The correct answer is: NO! The only part in your body that can “stop” working is parts of the brain. Also, the reason we have certain foods to eat is because it has the protein we cannot take in. The protein that we cannot take in is “backed up” in the body and the brain just gets overwhelmed with protein chemicals, and starts to shut down on various parts of the brain. Don’t worry, it doesn’t shut down the part that controls the heart or any other vital organ in the body.

  4. How and When Are We Tested? Today, it is law that every baby born in the United States including Hawaii be tested for the hereditary disorder PKU. Shortly after each baby is born, approximately 4-5 hours, doctors prick the baby in the heel (less feeling and more cushion) and draw blood into a tube. After receiving the blood sample, they ship the blood to the nearest lab that can accurately test for PKU. When the blood is tested they separate the white blood cells from the red, do a few math calculations (like I know…not) and then can accurately calculate the PHE level. When the PHE level is abnormally high, this indicates that the child has PKU. If the PHE level is normal, the baby does not have PKU. Heres a catch… if the PHE level is abnormally low this also means the child has PKU. Monthly and weekly tests are required, depending on severity of the disorder.

  5. Symptoms of PKU • With early diagnosis and life-long nutrition support, a person with PKU can be normal IF blood PHE levels are always kept normal. However, if an infants PKU has gone undetected and untreated for several months, the infant may have some or all of these symptoms: • Moderate to severe mental retardation. • Excessive uncontrolled body movements • Skin Rash • Convulsions • A pungent, musty odor In addition, the infant may be irritable and hyperactive. As children get older, symptoms can differ from person to person and new symptoms can also occur.

  6. Foods That Can Affect PKU Patients • A child with PKU who eats enough food to grow properly gets too much PHE. Foods high in protein are: • Cheese • Eggs • Meat • Milk • Poultry • Nuts • Dried beans and peas, seeds and peanut butter.

  7. What Is PHE? PHE is the abbreviation for the protein “phenylalinine”. Phenylalinine, is the protein that PKU patients are unable to take process properly, hence is why PKU patience are on a restricted diet for all of their life. I am required to drink a baby-like formula three times daily to get the necessary amount of protein in a day. In addition, I add many grams of nutritional powder that gives me extra calcium, calories, etc. Each can costs around one hundred dollars and lasts about two days.

  8. Foods That Can Affect PKU Patients(Continued) Foods in low protein include some cereals, fruits, fats, vegetables, and sweets. On the other hand, eating these foods in the amounts needed to provide just enough PHE, doesn’t provide enough protein for growth. To get get enough protein for growth and not get to much PHE, a special (certain) medical food that is high in protein and free of PHE is needed.

  9. How Is It Inherited? Mothers Genes Fathers Genes A

  10. Am I An Ordinary Person? Many people say that I am a special person with special needs. I am very sorry to burst the bubble of some people, but the truth is… I don’t like the word ‘special’. In my dictionary and by my definition, I am not special. I am an ordinary person who has had a full life of happiness and prosperity, envisioning the bright future I have ahead of me. I am not special, and I have no special needs… I am a young man who just needs something a little bit different than every one else. For those people who think I am alone, they too are wrong. Though only one in ten-thousand children are born with PKU, there are about eight of them that live only hours from here… in the state of Wyoming! I have access to contact any of them when I need to, so, no… I am not alone and YES I am an ordinary young man. One in every fifty people carry the PKU gene. If both parents carry the gene, there is a 25% chance their child would be born with PKU. Every person in the world carries at least four metabolic disorder genes.

  11. I Enjoy It Many people ask me, “How can you live with this… doesn’t it bother you?”. The answer to this question is simply: NO. I enjoy it, after all… I have been living with it all seventeen years of my life. I actually enjoy having this disorder. I have a gift that many people have discovered. I have the ability to comfortably teach the young and the educated the importance of PKU. I am currently in the process of getting a membership to a PKU support group that supports kids and teens with PKU.

  12. Future Plans In the future years, and hopefully near future, I plan to travel with more presentations to give to people to educate the nation. I have a passion for my presentations on PKU, and truly believe that it is very important to get the word out to people that this is a serious inherited disorder that people need to know about. With courage, support, and the ability to travel my plans will come true and I will be having seminars in no time. This is a serious disorder and should not be kept secret, but for the word to be spread to help children and adults understand what it is.

  13. Works Cited Foundation, Bringham http://www.medhelp.org/lib/pku.htm Retrieved on February 3rd, 2003 Metabolics, Ross “A Guide for the Family of the Child With Phenylketonuria. August 1999.

  14. Acknowledgements Bernstein, Laurie MS, RD, FADA Metabolic Nutritionist, Senior Instructor, Inherited Metabolic Disease **The Children’s Hospital-Denver,CO.** Isacks, Katherine MPS, RD Metabolic Nutritionist – Inherited Diseases Clinic **The Children’s Hospital-Denver, CO.**

  15. Special Thank You To All Who Support Me • A special thank you to all who support me and who act as my second family, looking out for my health. Thank you: • Donna Ward >Denise Scott > School Staff • Angela Johnson > Anita Hlavinicka > Administration • Ed Farmer > Lee Allen > Friends • Kim Flom > Kelly Allen • Scott Coale > Brothers • Dan Talkington > Family • Mr. Yetter > Teachers

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