Download Phenylketonuria (PKU)

Phenylketonuria (PKU)
Seventeen Years and Going Strong
Kenneth Casey Allen
“Living With PKU Part II”
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.”
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.
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.
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.
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.
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.
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.
How Is It Inherited?
Mothers Genes
Fathers Genes
B
A
C
D
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.
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.
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.
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.
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.**
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
Angela Johnson
> Anita Hlavinicka > Administration
Ed Farmer
> Lee Allen
Kim Flom
> Kelly Allen
Scott Coale
> Brothers
Dan Talkington
> Family
Mr. Yetter
> Teachers
> School Staff
> Friends