Mutation Story

I am Smith-Magenis Syndrome, I am a genetic mutation on chromosome 17. Unlike down syndrome, I am a genetic mutation of chromosome 17, not copy of it as down syndrome is the 3 copy of chromosome 16. I am a developmental disability and I live on chromosome 17 inside Jimmy, my existence is caused by the low copy repeats on certain segments of Jimmy’s chromosome 17, the most common cause of the low copy repeats is micro deletion within the chromosome. Unfortunately for Jimmy, my physical effects to his body are permanent.  These affects include: Mild to moderate intellectual abilities, Distinct facial deformities such as a large set jaw, Sleep disturbances and Behavioral problems. Students with SMS receive special treatment like most other students with mental and physical disabilities, but medical treatment for SMS is multiple sorts of therapy, such as Physical therapy, Occupational therapy and Speech therapy.

Jimmy was born in Melbourne, Australia on sept. 21, 2002. He lives with his Mom, Dad and two healthy sisters in a detached 2 story home. Jimmy was diagnosed with me in late 2003 while getting a blood test, the blood test confirmed that my presence existed before he was born. Jimmy’s doctors immediately set him up with the 3 therapies listed above beginning in 2006, one year before he begins school. Shortly after beginning grade 2, Jimmy’s life has been severely impacted as his fellow class mates made fun of his disabilities, as a result, Jimmy’s parents pulled him out of public school and decided he would home-schooled. After Jimmy’s check up later that year, his doctor noticed slight improvement in his development, but was not significant enough for him to overcome the symptoms, he was prescribed Meletonin to help combat the behavioral effects that put on him. In the summer of 2014, Jimmy attended a camp called Camp Breakaway, In San Remo on the coast of New South Wales.  This camp is a bi-annual summer camp set up specifically for children suffering from SMS.

Now 13, Jimmy has overcome most of the mental effects that I cause him, but his doctor said that he will most likely require  aid for the rest of his life.

1. The questions I needed in order to complete this assignment were: What is SMS? and What does do? These 2 questions gave me the knowledge necessary to complete the story.
2. The main tool I used was a guide, I used the hand out as a checklist as I went along.
3. I began by finding out what SMS even is, after that I researched information from medical related forums and Wikipedia to further base my knowledge of the topic, I then plugged some of the key words into google to see if my info matched up with anything elsewhere. After that, I reworded my info and typed it in here.
4. I provided a link to my main source.
5. I feel that this was fairly challenging as I personally had no idea what SMS even is, so the fact that I had to research and locate something completely new was challenging. I am confident with my and would change nothing.