PG.1 It was September fourteenth nineteen ninety in a hospital in Bethesda, Maryland.
Doctor Culver was carrying a small plastic bag containing the first bag of genetically engineered cells intended to treat a human disease. SCID is a disease with a immune deficiency that can be controlled by gene therapy. This girl Cynthia was born with this disease SCID. She has been treated with gene therapy and so far it has worked. SCID is Severe Combined Immunodefficiency. It is a terrible disease that kids are born with and in order to get rid of it you need undergo gene therapy. It is a long process which is costly but well worth.
The enzyme that these kids are not producing is ADA or adenosine deaminase. SCID is a birth defect where your parents have the recessive or broken down gene together. It costs a significant amount of money to get this treatment. It is about sixty thousand dollars for weekly injections of PEG-ADA.
That is a drug that has the enzyme with a chemical sheath that allows it to get into the bloodstream. SCID is formerly known as the “bubble boy” disease. SCID is a defect in the white blood cells B- and T-lymphocytes that protect us from viruses and disease. A little more than half of the cases of SCID are inherited by the X chromosome from the mother. A mutation in JAK3 which is located on chromosome nineteen will make this defect happen (SCID).
Also, X-linked SCID comes from a mutation in the interleukin 2-receptor gamma (IL2RG) gene which then causes SCID. These kids that are born with out a functional immune system can get pneumonia orPG.2chicken pox and can die before their first birthday. The first treatment ever done with this gene therapy worked and so did the second. Both of the kids Ashanti and Cynthia were not a hundred percent cured but enough for them to be able to live their lives regularly and be able to go places and play sports. They did have to get the weekly injections but it was a great success for the NIH people and all they had to do was get their child hood shots of the common disease and their injections so then they were fine. Yes it was a big hassle and very expensive but those kids were living regular lives for once in their life and they loved it and their parents were cherishing every moment of it.
Gene therapy is a wonderful treatment and all kids born with genetic defects should get it. All except for the price of this lengthy procedure it is well worth it. Can you put a price on how much you love your kid? The whole process takes a long time and depends on the disease and how well it goes. What they do is they take blood from the bone marrow which is where all the T- cells are. The t- cells are the ones that will go back to the bone marrow, which is where other cells are produced so they hope enough survive so that they make more copies of the good cell. To get the good cells in her bad ones they have to insert them with a needle and take out the nucleus and other parts. Then they put the gene in the cell and hope it takes then when it does they bring back all the good cells with the new gene and insert them into the patients body through a IV.
When in her PG.3body the cells will travel back to the bone marrow which was stated earlier and hopefully will start to produce ADA, the essential enzyme that she needs to build back up her immune system. Some one billion cells were taken out of her body and then placed back in. The only bad part of this therapy is that they can only use white blood cells from the marrow and white blood cells only live for a short time and most of the good cells put back in will die. They can not use red cells because they really don’t reproduce as much as the whites because they only live for two to three months sometimes even shorter.
I’m sure any one would spend the most amount of money possible to get their kid healthy. How could you not want to spend the money if you know it will help your daughter/ son to live a normal life for once? How great would it be too see your little Bobby or Nikki running around not having to wear a special suit and be able to play in mud and dirt and not have to worry about them getting sick dying. Though this case of birth defect is rare when it happens it is a big one and there’s no messing around with it. I is just one of those rarities when both the parents have the broken gene for this disease and neither of them might have it but maybe one out of their 3 children do. There is a fifty/fifty chance every time the mother is pregnant that the kid she is bearing will have the disease. Some get lucky and only one of three will have the disease, but in some cases all three kids could have the disease.
It is just a horrible thing to see when your baby comes out and they have to put in a bubble or give it shots or something right away said one mother of a child with SCID TIME PG.4magazine Sept. 24 issue 90. You are able to know weather your kid is going to have the disease or not about 3-4 months in to the pregnancy. What they do to find out is they stick a needle into the fetus and take out some of its cells and try to find the gene that is broken down.
If it is found that the kid has the gene then he/she will be fine, but if they can not find it then they know he/she has got the disease. Two kinds of lymphocytes must work together in order to develop a strong effective immune system being able to protect itself from infection. If the body can not protect its self it will die from some sort of disease depending on the disease you could live for a day to 3 months to when ever. It is in the near the top of the charts of deadly infant diseases.
It is usually not known why this disease occurs. There are different things that could happen and they try to figure out which of them is the reason for it. I said most of them earlier in the paper. It is sad to hear when up to five percent of the infants in the United States are born with fatal genetic diseases Internet site at www.primaryimmunesystem.
org. It does not really seem like much of a chance but try to tell that to the parents with the defected baby. With SCID it also just doesn’t affect the immune system it affects other parts of the body. It affects the brain and the lungs it may cause the lungs to fail leaving you unable to breathe therefore you will suffocate yourself. I would like to name some of the other kids who have had gene therapy done to them.
One is Andrew Gobea he had SCID, Ashanti DeSilva had SCID, Zachary Riggins had SCID. The most popular kid with SCID before Ashanti was David the “Bubble Boy” every one knew him he was Pg.5famous for a bad cause though. Since David’s death in the nineteen seventies the treatments for SCID have improved greatly.
It is sad that a kid had to die from the disease first for it to get any recognition. I just wish they would have had the cure already like gene therapy for David but technology then is not what it is now. It is sad to know that he died of this disease that we now think we have controlled but if it wasn’t for him maybe Ashanti and Cynthia, and Zachary and Andrew would all be dead too. So I guess it is better to take one life then four. Ashanti was the first girl to get the gene therapy the girl I did in the first paragraph Cynthia was second.
One of the most respected people in gene therapy and SCID is Doctor French Anderson he has been involved with all of these procedures and usually runs them. Him and the NIH group people deal with an enormous amount of this stuff and this is their job finding new ways to cure these genetic diseases and make these kids lives better. I give all of them a great amount of respect and would like to shake their hands and congratulate these fine people for what they have done. It was Doctors W. French Anderson, Michael Blaese, and Kenneth Culver at the National Institute of Health (NIH) who began the great experiment with gene therapy in nineteen ninety. What would have become of these children if it weren’t for these brilliant men? They showed a lot of courage doing this experiment no one knew what was really going to happen when the kids got the new genes.
People thought that the kids were going to die because the body would not accept the new genes. I’m glad and I am sure the DeSilva family is glad that they let their daughter become the first child to do the experiment. There is no doubt in my mind.
PG.6mind that one day they will have a cure for good with all these diseases and put an end to all of these child birth defects.