I am the 0.007% (Life as a double O-7)
Dear reader, let's take a trip.
Imagine...
Picking up the phone to the words of, "Your daughter tested positive for a rare genetic disorder,
your daughter has PKU".
Your perfect bundle of love, a small sliver of heaven dozing in the sunlight, has an imperfection. A flaw daresay.
What can be fathomed by a new mother of her second child? So many things.
Continue with your mind wanderings...
Imagine being told at age 10 you won't exceed in school;
"You will be average, with a chance of a struggle in mathematics and sciences."
Reader, how can a physician tell a 10 year old they will not be intelligent like the rest of their classmates; with tears streaming down their young face in the clinic because of the catastrophic thoughts occurring in that still developing cerebrum.
This is the root cause of why I struggle with thinking I am not intelligent enough for anything.
"Pregnancy will be quite difficult".
"...only 5 grams of protein a day".
Constant blood draws and tears, long painful tests, severe food limitations, and the forced intake of gritty, bland formula.
My friends.
Welcome to my life.
A life of struggling against the 4th most severe case of PKU in Minnesota
My. Life.
On June 18 of 1996, I was diagnosed with classic Phenylketonuria. A rare genetic/metabolic disorder that affects 1 in 15,000 patients in North America.
[THE SCIENCES]
WAYYYYY back when in 1934 (only 84 years ago) Dr. Iver Folling discovered the disorder of PKU, finally solving the pertinent mystery of why perfectly healthy babies were dying or growing up severely mentally impaired. This led to the baby screening test that saved my life by my diagnosis.
PKU is a genetic metabolic disorder of the Liver, but affects only the brain, making it a "pure" disorder.
Normal humans posses a gene known as the PAH gene (Polycyclic Aromatic Hydrocarbon) that secretes the enzyme phenylalanine hydroxilase. This enzyme is used PRIMARILY for the breakdown of the amino acid phenylalanine to be converted into tyrosine (your brain food)
PKU patients either do not have this gene entirely due to a deletion sequence or their gene does not function properly, resulting in diminished secretion of the PAH enzyme or zero production at all. Normal food for me means irreversible brain damage leading to shakes, emotional alteration, strokes and possibly death.
This means that I must follow an extremely strict diet of ONLY; fruits, vegetables, fats, oils, select sweets and little to no grains and a daily tyrosine supplement.
NOT:
-Legumes
-Dairy
-Nuts
-Proteins
-A lot of chocolate )-:
-Happiness
My specific mutation is a deletion sequence, where my gene was supposed to code for a C, but was confused and coded for a T on my DNA and deleted the entire gene. Hehehehe....genetics.
And let me tell you, this disorder is not cheap, my supplements cost an average of $35 USD a day and special food orders totaling an average of $200 USD.
So here I am, one of the mere 0.007% diagnosed in USA, living out my life the best I can.
But, don't let this fool you into a pity party for myself. I cannot thank you enough for being given my disorder.
This "hiccup" in life has taught me to be the most independent possible, beginning to cook for myself at 13 and making my own meals completely at 17. Teaching me the importance of staying health conscious with what I'm allowing in my body. The responsibility of not only taking care of my body but also my brain.
It has taught me the deepest of humilities, that the different ones are often the most compassionate, the most desperate for acceptance.
It has brought me pain and tears at the jeers of classmates, to the point of melancholy whimpers seemingly day after day after day in grade school. The craving to be the textbook, "normal".
But my wonderful dear friend.
Who wants to be normal in this life when you can be extraordinary?
-Extraordinarily proving physician's predictions wrong, and excelling in Math AND Science. Here's a few wins and thanks.
-Acceptance into a 24 seat medical program with over 200 applicants.
-A current job offer once I graduate my program.
-A physician trying to convince me to take over his research and occupation.
-A 3.7 GPA last semster.
-The most wonderful parents for not letting my brain degrade.
-The most amazing and supportive man and best friend in my life that overlooks my disorder.
What CAN'T a girl with classic PKU do?!? ;)
-H
Imagine...
Picking up the phone to the words of, "Your daughter tested positive for a rare genetic disorder,
your daughter has PKU".
Your perfect bundle of love, a small sliver of heaven dozing in the sunlight, has an imperfection. A flaw daresay.
What can be fathomed by a new mother of her second child? So many things.
Continue with your mind wanderings...
Imagine being told at age 10 you won't exceed in school;
"You will be average, with a chance of a struggle in mathematics and sciences."
Reader, how can a physician tell a 10 year old they will not be intelligent like the rest of their classmates; with tears streaming down their young face in the clinic because of the catastrophic thoughts occurring in that still developing cerebrum.
This is the root cause of why I struggle with thinking I am not intelligent enough for anything.
"Pregnancy will be quite difficult".
"...only 5 grams of protein a day".
Constant blood draws and tears, long painful tests, severe food limitations, and the forced intake of gritty, bland formula.
My friends.
Welcome to my life.
A life of struggling against the 4th most severe case of PKU in Minnesota
My. Life.
On June 18 of 1996, I was diagnosed with classic Phenylketonuria. A rare genetic/metabolic disorder that affects 1 in 15,000 patients in North America.
[THE SCIENCES]
WAYYYYY back when in 1934 (only 84 years ago) Dr. Iver Folling discovered the disorder of PKU, finally solving the pertinent mystery of why perfectly healthy babies were dying or growing up severely mentally impaired. This led to the baby screening test that saved my life by my diagnosis.
PKU is a genetic metabolic disorder of the Liver, but affects only the brain, making it a "pure" disorder.
Normal humans posses a gene known as the PAH gene (Polycyclic Aromatic Hydrocarbon) that secretes the enzyme phenylalanine hydroxilase. This enzyme is used PRIMARILY for the breakdown of the amino acid phenylalanine to be converted into tyrosine (your brain food)
PKU patients either do not have this gene entirely due to a deletion sequence or their gene does not function properly, resulting in diminished secretion of the PAH enzyme or zero production at all. Normal food for me means irreversible brain damage leading to shakes, emotional alteration, strokes and possibly death.
This means that I must follow an extremely strict diet of ONLY; fruits, vegetables, fats, oils, select sweets and little to no grains and a daily tyrosine supplement.
NOT:
-Legumes
-Dairy
-Nuts
-Proteins
-A lot of chocolate )-:
-Happiness
My specific mutation is a deletion sequence, where my gene was supposed to code for a C, but was confused and coded for a T on my DNA and deleted the entire gene. Hehehehe....genetics.
And let me tell you, this disorder is not cheap, my supplements cost an average of $35 USD a day and special food orders totaling an average of $200 USD.
So here I am, one of the mere 0.007% diagnosed in USA, living out my life the best I can.
But, don't let this fool you into a pity party for myself. I cannot thank you enough for being given my disorder.
This "hiccup" in life has taught me to be the most independent possible, beginning to cook for myself at 13 and making my own meals completely at 17. Teaching me the importance of staying health conscious with what I'm allowing in my body. The responsibility of not only taking care of my body but also my brain.
It has taught me the deepest of humilities, that the different ones are often the most compassionate, the most desperate for acceptance.
It has brought me pain and tears at the jeers of classmates, to the point of melancholy whimpers seemingly day after day after day in grade school. The craving to be the textbook, "normal".
But my wonderful dear friend.
Who wants to be normal in this life when you can be extraordinary?
-Extraordinarily proving physician's predictions wrong, and excelling in Math AND Science. Here's a few wins and thanks.
-Acceptance into a 24 seat medical program with over 200 applicants.
-A current job offer once I graduate my program.
-A physician trying to convince me to take over his research and occupation.
-A 3.7 GPA last semster.
-The most wonderful parents for not letting my brain degrade.
-The most amazing and supportive man and best friend in my life that overlooks my disorder.
What CAN'T a girl with classic PKU do?!? ;)
-H
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