The Ivers Fam: Ellie's Visit

Monday, January 25, 2010

Ellie's Visit

My most wonderful friend Ellie came to visit last weekend. We had a blast!! We ate at lots of yummy places, ran a 5k in the freezing weather, and hung out with friends and some of the Anderson clan! My girls love her,they attacked her every chance they got! I didn't take any pictures, I don't know why either I ALWAYS take pictures I guess I was just being a slacker, luckily Ellie and Mckenzie took some! I am going to visit her in Denver in either March or April wahoo! I can't wait!! These are some of the pictures Ellie took..

3 comments:

lynsie said...: i want to plan our denver trip soon! let's play; January 26, 2010 at 1:02 PM
# said...: HAHA!!! I love that pic of you, Ellie, & Jill... That was a lot of fun hanging out with you guys, last weekend! =]; January 27, 2010 at 4:09 AM
Jill Johnson said...: HORRIBLE PICTURE!!!!!!!!!!!!!!
MOOOOOOOOO!!!!; January 27, 2010 at 12:25 PM

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My Girls Genetic Disorder Tyrosinemia Type 2

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.
Dr Longo informed us that there are less that 100 cases of tyrosinemia type 2 reported worldwide. I have four of them.. I am so thankful that Presley was diagnosed when she was (at 13months) and that Sam, Dylann and Hadley were diagnosed at birth. They are on a low-protein diet and are doing great!!