Genetic Mutation Story


Part One 

“HAHAHAHA WHATS WRONG WITH YOUR FACE ?” ” WHY ARE YOU SO SKINNY ” ” WHY ARE YOU TEETH SO SMALL AND SPREAD OUT ?” These are just some  the things my host has to here many times through there life . You might recognize those symptoms as me ! What am I you ask , I am Williams Syndrome . I am caused by  deletions of 26 + genes on one copy of a individual chromosomes  #7 , witch means there is a additional genetic material near the elastic gene on chromosome #7. I have manny effects on my host . The most common one is i make my host have a characteristic facial appearance , most young host living with me are described as having very similar facial features .These include a small up turned nose , long philtrum ( also known as the upper lip  length ) , wide mouth , full lips , small chin , puffiness around the eyes .Even blue and green eyed children will me have a prominent ” starburst ” or a white lacy pattern on there iris . When growing older these facial features become more apparent with age.  The majority of individuals living with me also experience problems with  heart and blood vessel problems , typically narrowing in the aorta producing supravacular aortic stenosis ( SVAS ) , or narrowing in the pulmonary arteries .There is a broad range in the degree of narrowing , ranging from trivial to severe ( requiring surgical corrections of the defect ) . Since there is an increased rick for development of the blood vessel narrowing or high blood pressure over time . Witch means periodic monitoring of cardiac status is necessary . Another problem I cause my host to have is feeding problems . Most infants with me have this problem have been linked to low muscle tone , severe gag reflexes , poor suck and swallow ,tactile defensiveness etc. Feeding difficulties tend to resolve as the children get older.One of the last affects im going to list that have on my host is Kidney abnormalities witch means there is a slightly increased frequency of problems with kidney structure and/or function. My host life is also affected in so many other ways good and bad .Host living with me are very social , and friendly and endearing .Many parents like to say living with a child with Williams Syndrome brings Joy to there lifes , and there special personality and perseverance makes dreams come true ! Host living with me also have a very strong connection with music , for most there is a passion for music that in itself can create a passion to enrich there lifes . For some the passion blooms into a passion that helps cary out into other areas . When being grown up and living with me there isn’t a limitation of what i can and cant do , many living with me do work around in there communities as paid workers or even volunteer , working in restruants , senior centres ,and assisted living facilities, in libraries . No matter what my host maybe be doing , they are having a impact and a unique ability to quite naturally brighten anyones day of those around them !



Part Two

What questions did I need to Research In order to create my story ?

What is Williams Syndrome ? What affects does it have ? Is it common ? How do those living with Williams syndrome do day to day things ? What causes someone to have Williams syndrome ? How do they react around other kids and/or people ?

What new familiar Digital tools did I use as I worked through this project ?

I sourced my sites , reported all the information i found right into my post .I also used many sites on the Williams syndrome I had no clue existed

What was the process did I use to Investigate the topic ?

I first needed to find out exactly what Williams syndrome is , once i found out i needed to know the background on it and how it effected those living with it .I needed to know what exactly what causes this syndrome .

How did I verify and cite the information I found ?

I made sure the site was not a question site where anyone can put in comments , and was legit. I looked around manny websites to make sure the information i found is correct .


How did the process of completing this challenge go? What could I have done better .

At first I was very confused on what was being asked to complete this but i ended up reading it over and understanding it. I think i could’ve done a better job sitting my sources and working on my grammar and punctuation . Otherwise I think I did a very good job explaining my Genetic Mutation ,and making sure I covered everything that was asked .















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