marfans

shea went to JPS in fort worth yesterday at 5pm and it's now 3:19am and I have not heard from him since 10:36pm...that was his last text message. Now my brother and sister-in-law had their sweet little boy at that hospital and the whole family texted and called them all day, with no answer. The place is a like a black whole for cell phones. Yet, it's not like him to not call, or text that he is not coming home....unless he did and I just didn't get the message. He went in to have some test done on his heart, and this is why I am worried. Problems with your heart is kinda a big deal, and his mother has told us over and over again, ever since she saw the news report on Marfans, that she thinks he has the disease. Thanks to WIKI:
Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.^[1][2] People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.
People with Marfan's are typically tall, with long limbs and long thin fingers.
The most serious complications are the defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β).^[2] TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Researchers now believe that secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.^[3] Since angiotensin II receptor blockers (ARBs) also reduce TGF-β, they have tested this by giving ARBs (losartan, etc.) to a small sample of young, severely affected Marfan syndrome patients. In some patients, the growth of the aorta was indeed reduced.


^{UPDATE: Shea does not have Marfans, but he is a little silly at times.}

school's out

i made this blog as a project for school...but now that i have kids....it might be fun to record some of our adventures...some thing to look back on, and as long as the world wide web exist...my children can look back too.