Giovana Costa
Philip’s Story
Part 1Hi there! I am the DMD gene that is responsible for making the protein Dystrophin,
which is essential to muscle function, located on the Human X Chromosome, nice to meet you!
Today, I am going to tell you the horrible story of how I was mutated, and how it affected my
beloved host, Philip.
Because I was mutated, my dear Philip now has DMD, or Duchenne Muscular
Dystrophy. I guess you don’t know what Duchenne is, do you? Well, Duchenne is a devastating
and progressive muscle disease in children, and it mostly affects boys; much like Philip. Usually,
symptoms appear before the age of five, and most boys who have it do not survive beyond their
mid-twenties, but those that do will be wheelchair bound by age 12.
DMD is caused by a mutation in the DMD gene. Most cases of DMD are said to be
caused by a deletion in the gene:
Type of mutation in the
What happens to the DNA? :
dystrophin gene:
How often this
causes DMD:
Large deletions
Pieces of DNA are lost
60-70% of cases
Large duplications
Pieces of DNA are copied
10% of cases
Point mutations and other
There are small changes in the
15-30% of cases
small changes
DNA code
The first noticeable symptom is delay of motor milestones, which include sitting and
standing independently. There is progressive muscle weakness of the legs and pelvic muscles,
and it works its way upward.There’s more though, as the simplest of tasks become difficult, and
in the later stages, heart and breathing muscles begin to fail. Now, because of me, all of these
terrible things will happen to Philip.
Doctors say that ‘DMD is inherited in an X-linked recessive manner’: Boys have an X
and a Y chromosome, an X from their mom, and a Y from their dad, while girls have two X
Chromosomes, an X from their mom, and an X from their Dad. As DMD is a disease linked to
the X chromosome, for a boy to get DMD, his mom’s family needs to have a history with the
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disease. While for a girl to inherit DMD, her mom and dad’s family needs to have a history with
the disease:
I was mutated before Philip was even born, and he didn’t even know it. When he was
very young, his parents noticed that he wasn’t sitting and standing independently at the average
age, so they took him to the doctor. The doctor performed some tests, checked his family history,
and eventually diagnosed Philip with DMD. Philip’s parents were devastated. Their son would
develop a crooked back, wear braces, and eventually, Philip wouldn’t be able to walk at all,
much like the picture below:
Philip’s life would be very different from the ‘normal’ life. Because I was mutated, Philip
now has an Intellectual Disability, and a Learning Difficulty. This means that his parents might
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have to enroll him in a special school, with all the assistance (for his physical disability) and
guidance (for his learning difficulty) he might need, in order to benefit their son. Also, because
of the physical and mental effects I have caused him, Philip will never be independent. His
parents and caregivers will always need to help him, and because DMD is a progressive
Muscular Dystrophy, this will only get worse as he grows up. Philip will not be able to
participate in Physical Education at school, and unlike many boys, he will not be able to play
sports such as basketball, soccer, or tennis. His disability will also limit his opportunities, and
greatly affect his future. Sadly, Philip will grow up as a very underprivileged boy, and once
again, unlike other boys, he won’t be able to keep up with his friends. As you can see, I have
caused Philip and his family many problems.
Although there is no cure for what I’ve done to Philip, symptoms can usually be relieved
through exercise, physical therapy, respiratory care, and surgery. Exercise and physical therapy
can minimize painful positioning of the joints and may prevent or delay curvature of the spine.
Canes, and powered wheelchairs can help those with DMD maintain mobility and independence.
The use of steroids might slow down muscle weakness, and stem cell therapy is a promising
treatment.
Part 2-
1) The questions I researched were: What is Duchenne? How does Duchenne occur?
What causes Duchenne? Who does Duchenne affect? What are the symptoms of
Duchenne? Are there cures for Duchenne? What helps/ treats Duchenne?
2) As I worked through this project, I used Google, Bing, Wikipedia, Microsoft Word,
and YouTube to help me research.
3) First, I created a list of questions to guide my research, and I tried to find the best
website, with the best information for what I needed. I then made sure that the
information was accurate, and added the URL to my list. Eventually, through this
process, I finished my story.
4) I verified the information I read online by checking other websites to corroborate the
information, and I asked my mom for help on Medical accuracy, as she is a doctor.
When citing the information, I copied and pasted the links of websites I used onto a
Word document, like a ‘Works Consulted’ slide on a PowerPoint.
5) This assignment was like a rollercoaster. At first, it was cool to learn about DMD, but
as time passed, I wanted to include many details, so it got complicated. Something I
could’ve done better was to get started on the assignment earlier. That way, I
would’ve been less stressed about finishing the assignment.
Giovana Costa