Welcome Friends!
Taryn F.
California
Birth Date - December 5, 2001
Main Diagnosis - Mitochondrial Disease
THEME:Flowers
"THANK YOU"
Thank all you for the wonderful love quilt!
Love
tArYn
Biography
My name is Taryn Noel Fogel, born 12-05-01. I have a very rare disease caused by a single base pair change in my DNA on chromosone #2, this change alters the
amino acid composition in one of my protiens which is specifically involved in
my mitochondria which is the main power plant of my cells, I have mutations in
both copies of my genes, the BCS1L gene, 2q33-37. This mutation is between two
known syndromes called BJORNSTADT SYNDROME and GRACILE SYNDROME. The Bjornstadt
Syndrome has caused my hair to not grow properly... it is called PILI TORTI
hair. Also with this syndrome is nerve deafness, I am severly hearing impared
and have no speech. The Gracial Syndrome is an inherited LETHAL metobolic
disorder which comes with numerous of different things...FANCONI TYPE AMINO
ACIDURIA which is a kidney disorder that leads to the loss of important chemical
and nutrients through the urine that leads to acidosisis, CHOLESTASIS a
condition where bile formation or flow is reduced... stopp
age or suppression of bile by intrahepatic or extrahepatic causes. IRON
OVERLOAD...Accumulation in the liver..excessive iron builds up in the body and
gradually damages the joints,liver, heart, and pancreas. There is no early
symptoms. PROFOUND LACTIC ACIDOSIS...Acidosis caused by accumulation of lactic
acid , more rapidly than it can be metabolized. EARLY DEATH...self explanatory.
GROWTH RETARDATION....Slow weight gain, slow head circumference gain.
HEMOSIDEROSIS OF THE LIVER...generalized increase in iron stores of the body
tissues, particulary of liver and the reticuloendothlial system without
demonstrable tissue damage. Gracile is thought to be what causes me to be
globally developmentally delayed, but no one really knows since *I am the only
one of three in the world ( that we know of so far ) that has this these two
diseases together which is very unique, 1 in 5 trillion births, yet never has
been seen before besides me, my best friend Mary www.caringbridge.org/visit/m
ary zuzzolo and Connor Armstrong www.caringbridge.org/visit/connorarmstrong. We
are three of a kind. This is a mitochondrial disease, which I have a deficiency
in complex I and III of the Electron Transport Chain, with a disturbance of the
pyruvate metabolism. I can not walk and have no protective reflexes so when I am
on the ground I can fall over and hit my head so my Mommy and Daddy have to be
very careful with me. I can't do much of anything but I sure try hard. My mommy
and Daddy do not know what course it will take, the longest living child that
had Gracile syndrome that is documented so far was 9 yrs old, yet I have more
than just Gracile syndrome. So for now I will keep smiling and laughing because
regardless of all that I have wrong with me I am happy and glad to be here with
my family. I love my Mommy and Daddy, my two sisters and big brother.
God Bless
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Once there click on the link "database" on the right to view the children and their patterns. Once you find a pattern that you want to stitch and have confirmed it is not already being stitched you may return to the sign up form, fill it in and submit it. If you have any questions about the yahoo group please email Cyberfogie@aol.com, Vicki, for further instructions (yahoo groups email only!) Thanks!
