Saturday, October 18, 2008

I guess there are some nice people

I just found this video, these people do FREE surgeries to people with facial deformities such as microtia which emma has how cool is that..

emma finally started pt and she hates it.. she got all this little petici i i dont know how to spell that..aka lil broken vessels under her eyes. from crying she a breath holder.. poor thing..

Sunday, October 12, 2008

hope you like the new pics and video.. hopefully shell get a walker soon.. shes killin our backs..

Tuesday, October 7, 2008

disappointed again by the government

You know we had so much bad luck lately it just doesnt want to go just so disapointed with every thing.. my husband was unemployed for almost 5 months.. we lost our house our cars.. but we couldnt get help because he unemployed to long.. now hes been working for a month and a half at 8 dollars an hour now we make to much money.. we cant even get a medical card for my son we make to much money..oh but we can get 68 dollars in food stamps.. thanks freakin govt.. i love my kids and my life but god why does everything have to be so hard all the time.. can you tell im not on my zoloft.. cant afford to get it.. I hate the freakin govt..

having A wow is me day..

well we go to the gi doct..get lost, dont use yahoo maps they may look cool with there lil a b and c places to add yea freakin right.. so we get the hospital theres no were to park no were to turn around it took 10 min.. for this preppy dude to turn his rich, huge gas guzzling thing around.. so by the time we sign in we are 31 minutes late.. now this was an hour and a half drive.. after sitting there for 30 min.. they inform me i was late and cant see my day was already shitty.. so i feel the mist coming so I just bolt.. then get my reinforcements the hubby.. im sorry sir you were 30 minutes late.. i swear can anything just go our way just once.. so ssi approved to get a used car.. so i put our rent money up thinking we would get it right back.. ya.. the govt doesnt care about me..

on the good note wish you could see emma walk.. i have to hold her under her arms but she takes of on a stride.. she loves it..we even do it right before bath time we call the naked walk.. shes too cute.. maybe we should get her 2 walkers one for clothes and one for naked well nics eye appt is tomorow lets hope were not late for that.. did i mention i want to nominate myself for extreme makeover home edition.. im tired, lonely, sad, mad, glad..wish i had my mom and sucks if you dont have people around you.. you end up feeling like some poor old reclus that has that anxiety about leaving the house.. you end up bying 2 new shirts every six months.. the same shirt different color.. not thinking at the time..that when everyone sees you there gonna think that poor lady only has one shirt.. and i do this to myself every six months.. then what makes it even worse is when some 80 year old lady next to ya has your shirt on... can i just say i need a new life... i need extreme home makeover, extremem makeover,what not to where,and that show that declutters for you.. please...

Sunday, October 5, 2008

interesting article on the 22 chromosome

I havent had nicholas's genes tested yet.. for his fear of needles but if he does have the traslocation this is promising news for him..

New York (MedscapeWire) Jun 27 — Chromosome 22, one of the smallest human chromosomes, is known to be a hot spot for disease, including heart defects, leukemias, and schizophrenia. Genetics researchers at The Children's Hospital of Philadelphia in Pennsylvania are teasing out details of how that chromosome's chemical structure renders it particularly vulnerable to defects and rearrangements that may result in diseases. Their latest study focuses on a rare inherited condition called +der(22) syndrome that includes mental retardation, a heart defect, a small chin, and a cleft or abnormal palate. The researchers described unusual, unstable DNA structures in parents of children with the disease.
Reporting in the July issue of Human Molecular Genetics, the research team isolated specific DNA sequences at the junctions where broken pieces of chromosomes 11 and 22 attach to each other in a rearrangement called a translocation. The researchers found unusually frequent sequences of adenine and thymine, 2 of the 4 chemical letters in the genetic alphabet that spells out the body's blueprint. These repetitive stretches are called AT-rich repeats and are arranged in an unusual configuration called a palindrome.

"These palindromic sequences are unstable, and allow us to propose a model for how this translocation occurs," said Beverly S. Emanuel, PhD, chief of human genetics and molecular biology at The Children's Hospital of Philadelphia and senior author of the paper.

"This model of the disease's origin in chromosome structure is important not only for understanding +der(22) syndrome, but also may assist us in understanding other translocations," said Dr. Emanuel. Other diseases associated with such translocations in chromosomes include certain types of cancer and other birth defects.

The model draws on the fact that in other organisms, unstable palindromic DNA sequences are inclined to protrude from the DNA double helix in fragile structures called hairpins. These hairpins are weak points where the DNA can break and rearrange, causing abnormalities of the chromosomes.

When chromosomes 11 and 22 break, then exchange genetic material in a balanced translocation, the genes retain their normal function and a person carrying the abnormal chromosomes has no symptoms of disease. However, that person's child runs a risk of suffering from +der(22) syndrome if he or she inherits an extra copy of one of the rearranged chromosomes. Further studies in Dr. Emanuel's laboratory are developing a sensitive diagnostic test to help parents who carry the translocation ensure that their future children do not have the syndrome.

Unlike more random chromosome translocations, the translocation between chromosomes 11 and 22 occurs time and again in a population, suggesting that the specific locations where the chromosomes break are structurally unstable. Disorders based in peculiarities of chromosome architecture fall under a relatively new concept in medicine: "genomic disease." Such diseases originate in the structure of the genome — the full complement of genes carried by a set of chromosomes.

The current study of chromosome structure builds on more than 20 years of research conducted by the team on chromosome 22, as well as the team's participation in the federally sponsored Human Genome Project, the multicenter effort to compile the order of the 2 billion DNA bases of all 23 human chromosomes. The research group provided genetic sequences for the Human Genome Project's announcement in December that chromosome 22 was the first human chromosome to be sequenced.


Toes in the sand

Bahama's princess

Bahama's princess
make a wish 2013



i love u

i love u

Emma in the nicu

Emma in the nicu