Mutation Story:
Let me introduce myself quickly before beginning the story about mostly me and my host. My name is Germy, get it like Jeremy? Anyways I technically am not a germ, but my friends say I have a sick personality like they do. I am actually a gene, and it turns out I am mutated. Continue on with the story to see what my mutation does.
http://www.freeimages.com/photo/baby-face-1478936
“It’s a boy,” I hear someone call out. This is my favorite part of what I do. Why? Because this one boy has SCID, which is Severe Combined Immunodeficiency Disorder. He was the unlucky 1 in 100 000 to get it. I make the immune system practically useless so it can’t fight off infections. Time to get this party started.
I worked hard to give baby Carson SCID, but I can’t take all the credit. His mother unknowingly passed it on to him. Though I did have to work to make sure everything was in place.
You see, I am a gene. A mutated SCIDX1 gene to be precise. My job old job of a gene was very boring; all I did was encode protein so that it would make IL2RG receptor. Boring. The receptor got a good job it lets the T cells and B cells communicate so they can fight off bacteria. But now that I am mutated, no cells will be talking. The immune system is open to infection and won’t be able to battle them off.
http://baby.lovetoknow.com/wiki/Baby_Urinary_Tract_Infections
Luckily for me, a simple infection started first, an ear infection. Then, a nasal infection, followed by diaper rashes. To my amazement, the parents hadn’t seemed to figure out that their child was ill. Too bad for them, I was having the time of my life.
I couldn’t help but feel joyful that Carson got a skin and blood infection next, as well meningitis and diarrhea. The child was obviously in distress and couldn’t be helped.
The last infection made me the happiest, he got pneumonia. That was the last straw, the parents took him to the hospital. I was furious they were ruining my plan; this boy wasn’t supposed to live to age 2.
I could hear the parent crying in the background, they must have found out their son has a fatal disorder. “Why does it have to be him?” I heard the mother cry out.
I rolled my eyes, people can be so uneducated these days. The reason your son has it is because you passed it along to him, this is an inheritance disorder. This is a disorder that practically only infects boy because, me the mutated gene is on the X-chromosome. Boys have one X chromosome and one Y chromosome. Whereas girls have two X chromosomes. So if a boy’s X chromosome has a mutated SCIDX1 gene on it, he doesn’t have a replacement.
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
Sadly, for the parents, their child will probably not live to age 2. There is no real way to cure me unless you want to live in a bubble your whole life. Another boy had SCID decades ago and had to live in a sterilized bubble for his 13-year life. Carson will have two choices, one death or two sterilizations.
“I think we can save your child,” I heard the doctor quietly save. My heart stopped they couldn’t save him; not even sterilization would work.
“We need to get Carson a bone marrow transplant immediately,” the doctor yelled out. This couldn’t be happening I didn’t want to return back to my old self. Or maybe I wouldn’t even stay in Carson’s body.
Carson’s breathing started to slow down, he must have been put under. I felt myself start to feel tingly and then I was taken out of the body. I looked down at Carson’s face for the first time, he was pale white.
I couldn’t see what the doctors were doing but I already knew. They were inserting healthy cells from donors. My plan was officially over, as a mutated gene, Carson would live.
http://science.howstuffworks.com/life/genetic/gene-therapy3.htm
Hello there, I hope you liked my story. I am no longer a mutated SCIDX1 gene in Carson’s body, instead, he now has healthy cells. I am happy to say that Carson no longer has bubble boy disease also known as SCID.As for me, I am doing well. I am currently going through therapy to help me change back to my old self. I hope one day to return to a normal gene.
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1. What is severe combined immunodefiency disorder?
In simple terms severe combined immunodefiency disorder is a group off disorders in the immune system. The immune system doesn’t work the way it is supposed to and leaves the body open to bacteria and germs. http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
2. How do you get it?
It is inheritance. The most common form of SCID is by SCIDX1 gene that was mutated. The gene is found on the X chromosome. The genes job is to encode a protein that has a specific job to do. It has to make IL2RG a receptor in the plasma. A receptor is supposed to let the T and B cells communicate to fight off germs. But when it is mutated it stops the chatting, causing the cells not to know.
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency
http://study.com/academy/lesson/severe-combined-immunodeficiency-causes-symptoms-treatment.html‘
3. What are symptoms of SCID?
Meningitis, infections (nose, mouth, ear, skin, blood), chicken pox, chronic diarrhea, severe respiratory, pneumonia.
http://study.com/academy/lesson/severe-combined-immunodeficiency-causes-symptoms-treatment.html
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
http://www.chw.org/medical-care/immune-deficiency/immune-disorders/severe-combined-immunodeficiency/
4. Who is the most affected?
Infant boys. This is because the mutated gene is usually on an X-chromosome. In boys, they have 1 X chromosome and 1 Y chromosome. Whereas girls have 2 X chromosomes and one can be replaced. For boys however, they don’t have a replacement for their X chromosome.
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
http://www.scid.net/the-scid-homepage/about-scid/
5. How many people are affected by this disorder?
Roughly 1 in 100 000 newborns are born with this disorder.
http://www.newbornscreening.info/Parents/otherdisorders/SCID.html#11
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
6. Does anyone famous have this?
Well kind of. A boy by the name of David Vetter became famous because he has SCID. He couldn’t even breath the bacteria filled air we do so he had to live in a bubble for his whole life. Unfortunately, he passed away before he was 13 because of his disorder.
https://en.wikipedia.org/wiki/David_Vetter
http://www.cbsnews.com/pictures/bubble-boy-40-years-later-look-back-at-heartbreaking-case/
https://www.youtube.com/watch?v=4CFPdUAj41Y
7. What is the treatment for SCID?
Bone marrow transplant. Stem cells that are useless to the body are taken away and someone with healthy ones are added. This way the body should be able to regulate itself for immune system to work.
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency#Treatment
http://kidshealth.org/parent/medical/allergies/severe_immunodeficiency.html#
8. What are the effects?
You have to live in a completely sterilized area. Which means you can’t go to crowded areas where people may be carrying infections, such as schools or shopping centers. You must stay away from people who cough and sneeze. And you can’t physically touch anyone, no high fives or hugs. And if you are like David Vetter you must live in a completely sterilized area such as a bubble.
http://study.com/academy/lesson/severe-combined-immunodeficiency-causes-symptoms-treatment.html
9. What are other names for SCID?
To name a few, bubble boy disease, alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia.
https://www.youtube.com/watch?v=4CFPdUAj41Y
https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
10. What infections make up SCID?
X-linked severe combined immunodeficiency, Adenosine deaminase deficiency, Purine nucleoside phosphorylase deficiency, Reticular dysgenesis, Omenn syndrome, Bare lymphocyte syndrome, JAK3, Artemis/DCLRE1C
https://en.wikipedia.org/wiki/Severe_combined_immunodeficiency#Treatment
11. How often do most people live with this disorder?
If detected as a young infant, then they should live a regular life. But many are not detected until it is too late. So many children don’t make it to age 2.
http://learn.genetics.utah.edu/content/disorders/singlegene/scid/
http://www.newbornscreening.info/Parents/otherdisorders/SCID.html#11
I also commented on a YouTube video about SCID: https://www.youtube.com/watch?v=semPUQrX4gk
My dearest apologies to you and your partner about Brandon, I can’t imagine what you went through. But as well, congratulations about your other son. I was just wondering if doctors were any closer to screening for SCID before the baby was born? Thank you.
I also commented on two Slideshares about the disorder: (Here it is)
Through this project I tried to use Google to help but also trying other things. I looked at YouTube videos and commented on one. But there is no answer yet. I also checked out slideshares which are similar to Powerpoints but look cooler. And for the sites I used, I tried to find educational or government run sites so I knew they were trusted.
The process of me finding information on SCID was by searching up the questions I needed. But also try to try new things like watch videos from people who were or have a family member affected by it. This allowed me to connect with it more. I also looked at other peoples projects (powerpoints, etc.) to familiarize myself with how it all works. I tried to use Google as well as other tools.
To make sure all the information was true I only used government and educational websites. This way there was a better chance of it being true because it was coming from professional networks.
I feel that I did quite well with the project. I did become slightly stressed but it wasn’t entirely from this project. It was just that I had a lot of other projects due at the same time. I think my story was a good length with effective facts throughout the story. Though there were a few things I would fix for future COL projects. The first being I would make my story more interesting and funny. I found that my gene story was kind of boring without actually getting the reader into it. The second thing I would do better would be to organize my time better. I felt that I kept leaving it off, though I didn’t leave it to the last night to do. I just wish I would have organized my time so I could do all the projects that were due to the best of my abilities and in good time. Yet there were a few things that could have been improved about my project, I felt that the final outcome is something I am proud to put on my blog.