Marfan syndrome
I’m a gene inside of Marissa. Some genes start out healthy, however, I did not. From her
mother’s egg or her father’s sperm something in my DNA coding went wrong
and I started to mutate. I started to break down the proteins of her connective
tissue. Protein in Marfan syndrome is called fibrillin-1 and I was unable to tell
Marissa’s body how to make it. This mutation resulted in an increase in a
protein called transforming growth factor beta, or TGF-B. The increase in
TGF-B caused problems in Marissa’s connective tissues throughout her body.
The connective tissue in her body became weakened and started to cause
visible deformities and joint problems.
There are many symptoms for Marfan syndrome. For Marissa, the diagnosis was initially
made because of the typical features that were easily recognizable by her
doctor. In Marissa’s case she has excessively long arms. Marissa’s doctor
checked this by measuring her arm span to determine whether it was
longer than her height. She also had abnormally long spider like fingers,
which you could tell were not normal just by looking at them, and
flexible joints causing problems with her hips. Her doctor also took an x-ray to check her hip
socket and found them to be extra deep which is another trait of Marfan syndrome.
Marissa had a family history of Marfan syndrome, and she has a 50%
chance of passing the gene on to her children. There is no cure for
Marfan syndrome, however, treatments can help delay or prevent
complications, especially when started early. Treatment may include
various medical and surgical treatments, but there is no one single
solution or medicine as each complication needs to be treated separately.
In order to make my mutation story I had to do lots of research. The questions I asked
were, what is Marfan syndrome, so I would understand what sort of detailed questions to
research, what happens to the genes, so I would know how to explain my story, how does Marfan
syndrome affect the appearance of someone, what are the symptoms, are there any cures for
Marfan syndrome, to know if Marissa would ever have a normal life, are there treatments that
could help and is it possible to pass it on to your children? Some familiar digital tools I used to
create my story were to use multiple websites to get a good understanding of Marfan syndrome,
and find pictures that went with the paragraph. I also used Microsoft word because I find it the
easiest to use.
The way I kept my websites were to look at the link I had open and rewrite the name on
another page so if I needed to go back to a certain website I could look at my page and find it
easily. I also put the question I asked and the websites for the questions together so I would
know which website was for which part of my story. I found that I did a good job coming up
with detailed questions and finding the answers for them. I was also happy with how I organized
the story and the final product. Something that I could have done better was to start on the
project a little sooner and start it on the day it was assigned. I should have done one section a day
so that it was less time consuming.
Websites I used:
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www.marfan.org/about/marfan
https://En.wikipedia.org/wiki/Fibrillin
http://patient.info/health/marfans-syndrome-leaflet
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/genemutation
https://www.nhlbi.nih.gov/health/health-topics/topics/mar/treatment
http://www.webmd.com/heart-disease/guide/marfan-syndrome
http://www.marfan.org/about/body-systems/skeleton-and-joints