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36 Year Old · Female · From Madison, WI · Invited by: JimmyJames · Joined on July 2, 2010 · Relationship status: In a relationship · Born on July 24th · 2 referrals joined! · I have a crush on someone!
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36 Year Old · Female · From Madison, WI · Invited by: JimmyJames · Joined on July 2, 2010 · Relationship status: In a relationship · Born on July 24th · 2 referrals joined! · I have a crush on someone!
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We just found out our lil baby boy Xander Chase Priest is dying from Menkes disease.It is basically a copper deficiency that kills the central nervous system.Keep him in your prayers please.For more info on this disease copy this link.http://themenkesfoundation.org/research/overview.html

Menkes disease is primarily a deficiency of copper. In the disease, a specific] genetic defect prevents dietary copper from being absorbed into the body through the intestines. An otherwise normal baby can not develop Menkes disease simply by avoiding the element because the body needs only an extremely small amount of copper, and it can be obtained in just about every food.
Genetics

Menkes disease is caused by a defect on the MNK gene, which is located on the X chromosome. Thus, the disease is considered X-linked. The MNK gene encodes a protein that transports copper from the inside of the intestine to the blood.

Because of the X-linkage, the disease is passed from the mother (who is a carrier) to the son (who will get the disease). About half the daughters of mothers who are carriers will inherit the mutated gene. Girls will not get the disease because fathers (who don’t have the disease) contribute an X chromosome that counterbalances a defective gene on the X chromosome inherited from the mother. It is impossible for a father to transmit this gene to a daughter so that the daughter is a carrier, because boys with this disease die at a young age, much before they could have children on their own.
Symptoms

Baby boys born with Menkes disease may be born prematurely, but they appear healthy at birth and develop normally for six to eight weeks. Then, the following symptoms begin during the first few months of life:

* Floppy muscle tone (hypotonia)
* Seizures
* Feeding difficulties and poor growth (failure to thrive)
* Body temperature that is below normal (hypothermia)
* Abnormal appearance of the hair
* Severe mental retardation
* Degeneration of the eyes (optic atophy)
* Weakened bones, which may lead to fractures
* Typical facial features

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36 Year Old · Female · From Madison, WI · Invited by: JimmyJames · Joined on July 2, 2010 · Relationship status: In a relationship · Born on July 24th · 2 referrals joined! · I have a crush on someone!
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I enjoy being a mother to my wonderful children and a partner to my wonderful boyfriend James. I enjoy writing. I love to have a good time and I know how to have a good time "Challenge me to a good time" I like to say. lol
I love being outdoors, whether its hiking, sledding, camping, or just havin a drink by the lake. I enjoy jammin to tunes, writing, meeting new people,ridin around and chillin.
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