Muenke Syndrome
By: Kaiden Hofmann
The Story
Mr and Ms Heights is having a baby said to come somewhere in December. Its bin already three months. And inside this mothers belly is a baby 
being created. But Somethings not right in the baby. What is it? A gene is mutating, starting early in the babies life in the womb. The gene’s FGFR3, which is a specific genome, that is located in chromosomes. It plays a role in bone development and maintenance. Unfortunately this certain FGFR3 in a chromosome, it’s proteins is overly active and is mutating causing the babies bones to fuse together. Also many allowing only 33%-100% of hearing lose, well as development delay. We will just have to see what type of symptoms this baby shall proclaim.
Not much is know though how this mutation and how it happens. It’s about 8% of all disease that come in, and have bin recorded down.
This type of disease is uncommon to have no visible changes you can see, around 8% to be exact. But if taken and X-ray and show one of many symptoms. For example. Wide set eyes, small deformed head, and flattened cheek bones!
This boy is about to give his mother a freak out when she finds out her new born baby has a uncommon disease!
5 Months Later
Waaaaah! Wahhh! The baby is born. At an average weight and hight. But already the doctor notices that the baby has a deformed head. So as protocol he give the new born an X-ray. He checks the baby and sees that he has Muenke Syndrome. This babies disease is rare and not treatable in most cases. The baby seems to have a 32% hearing lose, well as a flattened cheek bone. Its going to be rough news to tell this family and their new born baby!
This is one of many mutations that a family and new born have to overcome. Its rough enough already having cancer as one of the most common mutations among people. Its a side track of being a human. But also all life has to go through with this on some rare occasions. Some good, most bad. All we can to do is prepare yourself that if anything goes wrong. You can pick yourself up, and hope you got to serious of a problem. Besides most people in the world had some type of mutation, just weather or not it was a small change like hair colour, or some huge change like Muenke syndrome.
Facts on How I Created this Story
Sites
https://en.wikipedia.org/wiki/Muenke_syndrome
https://ghr.nlm.nih.gov/condition/muenke-syndrome
http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR3
https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome
I did find out that some of the info on the websites where false. It took me a while, but I noticed that if I go on more and more websites I can see the connections in what really is true, and false.
I did need to research on a lot of this disease. None of my family member have this type of Mutation. So I had no connections. I guess thats why I even picked this, because it was new and fascinating.
I used as much as I could of the steps on my previous assignment DDDDDD strategy. (Define, Discover, Dream, Design, Deliver, Debrief.)
I do feel I could of done better in the depth of my story. I could have gone more into it. Gave the family a background that might of been a theory in how this Mutation could of started. Thats probably the biggest thing I could of expanded on. Its just on perspective on how you perceive it. With all things aside, I still really think that Mutations is a somewhat fascinating thing, in how one change can cause you to have all these things. If you were lucky enough to have a positive effect on the mutation. I think it could be the key to unlocking cures for diseases, as well as super powers!!!
By: Kaiden Hofmann