The Ivers Fam: Samantha is 4!!

Thursday, June 25, 2009

Samantha is 4!!

Our lovely Samantha Marie turned 4 on Monday! We had a birthday party for her at the park and had tons of fun! As you can see in the picture I posted I need some serious help when it comes to decorating cakes! She picked out her own birthday dress and was SO excited to wear it she actually slept in it that night and wore it again the next day, I didn't really feel like putting up a fight. I can't believe she is 4! She got tons of barbie and princess stuff which she LOVES!! All three of them are getting so big!! I love how she is modeling her dress in the picture!!

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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!!