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Sarah and Jamie’s Journey -Mum & Son Fighting Together!!!
PLEASE PRAY FOR JAMIE.....he needs your prayers more than ever. I am in tears writing this...Please read on.....
New Findings ~ A Diagnosis ~ Scary times ahead........
Seems that 2008 has been the year of discovery for Jamie....and now we have some new findings on our hands that have shocked me & my family...and made me more scared than I have ever felt before in my whole life.
Recently the doctors here in the Uk have been looking into Jamie's DNA & genetics, to try to come up with some answers as to why he continues to be so poorly, and what might be causing it....remembering of course that he doesn't fit into any known diagnosis. We have discovered this week that there is a reason for that........
Jamie has a deletion on his chromosome 3, which we were told in the past was quite complicated...but we didn't realise how complicated. We have been told that Jamie has a vital gene deletion that no-one before him has ever had, making him the FIRST & ONLY in the WORLD. This means that they have no real knowledge of it, the course the disease might take or indeed how best to treat it. Or even how long he might live. I am devastated and very scared. Although we now know what is causing Jamie to be so sick, we are still none-the-wiser when it comes to understanding it and what to do for the best. All we know is that it is affecting 88% of all Jamie's cells in his little body, and it is very serious. To add to that, Jamie also has another diagnosis of Diamond-blackfan anaemia, as he is missing that gene too.....which only complicates things further. He also has several other genes absent from this chromosome. I will try to explain the function of the missing vital gene as best I can....it is very complicated and I have found little information on it, but what I have read has frightened me beyond belief.
We were hoping for the doctors to diagnose Jamie and tell us about his disease, but instead it will be Jamie teaching them!!
Basically the gene that is missing is called the Transferrin Receptor Gene or TFR1 / CD71. It has a molecular function and is a protein coding gene / intracellular iron metabolism gene. It plays a critical role in cellular import of iron throughout the whole body, meaning that it basically carries iron to the cells that need it. For Jamie, it is missing so there is nothing to transport the iron to where it is needed. A very scary thought considering that ALL CELLS ARE IRON-DEPENDENT. The TRF1 gene combines with a substance called transferrin(a protein which transports iron to transferrin receptor from all over the body, which also removes organic matter and allergins from the blood serum) to initiate a change in cell activity. It basically makes iron soluble, regulates the iron levels within the body and transports and metabolises iron within a cell or between a cell and its external environment. It is a cycle that the human body depends on...and Jamie lacks it in 88% percent of his cells. Complete lack of it is incompatible with life. TRF1 is expressed in every cell...particularly neurons(brain cells) and Erythrocytes(red blood cells)...but it is needed everywhere...the liver, lungs, heart, brain, bone marrow, pancreas, kidneys etc etc...the list goes on and on. I feel like my little boy has been handed a death sentence, and we are very uncertain about his future. I'm petrified of what this disease may do to him...I'm so, so, so scared that his future will be filled with pain or that we could lose him at an early age. My God, that is something I cannot even bear to think about.
So Jamie's little body is producing blood cells, but they are dying because they are not being activated by the iron, which means that iron is not getting to his vital organs, which in a sense makes him iron-deficient....yet, he has an overload of iron, because the iron is there but not being utilised as it should be. On top of that, because of his regular blood transfusions, he is building up even more iron....so he has MASSIVE iron overload, which again affects everything and puts him at risk for all manner of complications. For now, we continue the chelation therapy in the hope that it helps to decrease these toxic iron levels within his body. The doctors are consulting with other doctors around the globe....as little is known about Jamie's genetic mutation, and any treatments will be experimental as they have nothing previously to work on, other than studies they have done on MICE. So, he will be a human guinea pig.....My poor baby, he doesn't deserve this. I love him so much. I want it to be me...I want to trade places. I just want him to LIVE.
If you do nothing else today, please PRAY for my son...pray that he can fight this and that the doctors can find a way of treating it...PRAY for HOPE, PRAY for STRENGTH, PRAY for COURAGE...for little Jamie and my whole family.
Thank you. I will let you know as and when I find things out.
Love Sarah, Jamie's Mama.....Mother to the most brave & beautiful baby boy there ever was & ever will be.
xxx
We, at Hope And Support, are thrilled to announce that wonderful things are in the works!!
This is a NEW year, and we are hoping to help LOTS of families discover a FRESH START in life!
We have partnered with McGill Charities (www.McGillCharities.com) and Give Yourself (www.GiveYourself.com) in our efforts to make this hope a reality! Although we can only feature a few families a year on Hope And Support, there are SO MANY in NEED of help! By posting your needs (or those of a family that you know) on the Give Yourself section of the McGill Community (follow the link on Hope And Support OR paste this link into your browser http://www.bryantmcgill.com/forum/index.php/board,215.0.html
), not only will it make us aware of the needs, but will also make their needs known to so many MORE people. Our philosophy at Hope And Support has always been, the more people who know about a need, the more who have the opportunity to HELP!
Please partner with us in welcoming the change that the Goodwill Treaty can bring, in not only your own life, but in the lives of those around you! Please check out www.GoodwillTreaty.org for a chance to add your name! This “treaty†is a personal agreement for YOU to sign, acknowledging that YOU PERSONALLY intent to promote compassion, respect, love, and goodwill toward others in the world- regardless of their outward appearance, background, culture, or religion. Please take a look at it, and consider signing it yourself.
We are diligently searching for the next family to be featured, and are hoping to share their story with you soon!
God bless you all! Don’t forget to check out www.GoodwillTreaty.org!
-Sheíla
www.HopeAndSupport.com
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Check out this video: Pray for baby Kaleb.
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Hi there friends, James here with my faithful sidekick daddy. Our total is still rising thanks to some really special people.....YOU. Without you we would not have any chance of achieving anything on here. Thankyou for reposting our bulletins over and over again and please keep on reposting.
James and Daddydrock
If you are unable to donate, how about reposting......you never know who might be able to help
Thanks!
----------------- Bulletin Message -----------------
From: Help Joshua
Date: Aug 16, 2008 11:39 AM
add Joshua to your friend list, we are going on 3 years of him being sick and something new coming up every 6 months and so far we still have no answers. I know that there is a doctor somewhere out there who can find out what is going on in his little body and that Doctor might be someone on your friend list or your friends friend list. I just that you ask everyone you know to add Joshua and I hope someone will see his story and piece together all his illnesses and come up with a solution
Joshua is 5 years old now and since he was 2 he started getting sick, it started off with him losing about a dime size piece of hair, then he lost all the hair on his body, then he was complaining of his right leg hurting, we went to the doctor for about 6 months but nothing was found, then his left leg started hurting and was running a high fever, they said that he has fluid around his knee and his ankle, then we had another doctor do x-rays and they found two small tumors, since that time, he has had bone marrow biopsy which was pretty normal, it has elevated white blood cells, but then he has a bone biopsy and it had some rare plasma cells, we were told that he had a rare bone disease. Then he was in a cast for 7 weeks because his right foot was hurting but it didn't show to have a break or anything, well they did a MRI and he had 7 different spots of edema in the foot, they aren't sure what it is, it can be from something kinda small like a bone infection all the way to bone cancer, we still have to get more test done. His left leg is shorter, he is losing muscle around that left leg, and now he has skin fading, nobody can figure out why this happening and what is causing it or even how to treat it, he just takes vicodin and sterroids, but I know there is someone who can help us. We are going to Iowa City, Iowa to a doctor there in Sept....Also raising money to get his wheelchair, almost there to get one that has some extras like a canopy, and padding for his back...please add Joshua and repost for us....he is entered into a contest to raise awareness and it goes off the number of people who repost for you
www. myspace. com/helpjoshua
The courageous young boy in the photo above is five-year-old Joshua Edmondson. Joshua suffers from an autoimmune disease and his body is attacking itself, but the doctors are not sure why. His illness has caused him to lose 80% of his hair and he has tumors inside each of his femur bones due to the tumors on his growth plate his body suffers from a spinal curve as well as his left leg growing at a slower rate than his right.
Joshua is looking forward to going to school this fall but he needs our help. Because of his condition Joshua needs a to aid him during the times when the pain in his legs becomes too much for him to support himself.
Recently there was a bulletin posted asking if anyone had a used one of these chairs for young Joshua, I think we can do better than that. If every one of us just chipped in a little, together we could all make a huge difference in the quality of life for this young boy.
Joshua is also wanting to get a bigger size wig for him to go to school, he doesn't want to go without his hair. We are going to order this one http://www. voguewigs. com/sam-henry-margu. html and when we raise the $650 then we will go have him one custom made, it will be made from messurements of his head that way it won't fall off his head while playing at school
Visit Joshua’s Myspace Wheel Chair
LETS MAKE A DIFFERENCE!!! Thank you.
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You may be having a bad day, but when you see what happened to this poor baby you'll find out how truely blessed you are....
Help Her Simply By Reposting This..
Alexandra came out of a fire alive, but now has to fight for her life and a normal future. She is 14 months old and she has burnt skin all over her body, damage facial bones (as a result of very high temperature). She does not have half of her face. She is in hospital in Krakow - Poland and one of the best specialist is looking after her. However she still has to go through many surgeries and then long rehab. Unfortunately her parents do not have any more money.
Therefore we are asking for your help. For each forwarded Bulletin her parents will get 3 cents.
You don't have a heart if you don't pass this on!! You Must Click Reply 2 Post Then Copy The Code..To Be Able 2 Post The Bulletin With The Picture!
<object type="application/x-shockwave-flash" allowScriptAccess="never"
BFREAKY.COM
BFREAKY.COM
BFREAKY.COM
BFREAKY.COM
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JESUS AN DAD @ MOM .. http://www.slide.com/r/coupFRCe6D_d07NqzkdOaOMv08y_Dhttp://w ww.slide.com/r/coupFRCe6D_d07NqzkdOaOMv08y_DxzT?previous_vie w=lt_embedded_urlxzT?previous_view=lt_embedded_urlcellpaddin g=3 cellspacing=1>
The Art of Coffee I don..t think I could bring myself to drink these cups of coffee if they looked that nice.