Part 1 – Mutation Story

Hi, I am a FGFR3 gene in a 16-year-old girl named Kayla. I am supposed to carry instructions to make the protein fibroblast growth factor receptor 3 which is involved in forming cartilage into bone but because of my spontaneous mutation Kayla has Achondroplasia which is a disorder of bone growth. It is the most common kind of dwarfism. I am her only mutated growth factor receptor gene but if she had another gene that was just like me then the disorder could be fatal. At birth she had short arms and legs in comparison to her body height and an excessively large head. That is when the doctor diagnosed her with Achondroplasia. During fetal development a lot of Kayla’s cartilage didn’t form into bone and it interfered with normal skeletal development.

80% of the time, Achondroplasia isn’t inherited just like Kayla’s case but there is 50% chance that if she has a child that he or she will also be diagnosed with Achondroplasia. Right now Kayla is 4 feet and 1 inch and it is very rare for her to get any taller. She has trouble bending her elbows and she has experienced ear infections due to narrow passages in her ears. She is at risk for spinal stenosis and is very lucky she hasn’t gotten it yet. Luckily Achondroplasia does not affect a person’s intelligence or life span but that doesn’t necessarily mean that she will live a happy life because she is also at risk for heart disease when she is older.

Kayla’s high school life has definitely not been easy yet. She is always being bullied and called names like “dwarf” and “midget” because of how short she is; they just don’t realize that she is still an intelligent human being just like other girls. Unfortunate for Kayla, there is still no cure for Achondroplasia even though the cause of my mutation is found. The only things that can be treated are her ear infections with antibiotics and if she gets severe spinal stenosis then she may get surgery.

https://www.genome.gov/19517823/learning-about-achondroplasia/

https://ghr.nlm.nih.gov/condition/achondroplasia

http://www.healthline.com/health/achondroplasia

http://www.medicinenet.com/achondroplasia/article.htm

https://en.wikipedia.org/wiki/Achondroplasia

Part 2 – Information Fluency (The Process)

Ask

–          What is Achondroplasia?

–          Does Achondroplasia affect a person’s life span?

–          Can Achondroplasia be cured?

–          How is Achondroplasia caused?

–          What happens to the genes for Achondroplasia to happen?

–          How common is Achondroplasia?

Acquire

To find the information I needed I searched the questions in my search engine and used sites like Wikipedia. I also found lots of information on health and science websites.

Analyze

To make sure my information wasn’t false I made sure that I was using more than one website and that each website looked professional. I also made sure that the facts were reasonable and made sense. I had all the raw information and facts in point form and then arranged them in groups based on how they were related. From that point I started to put everything together and organize it all into paragraphs and making sure that I was putting it in my own words.

Assess

I think that the process of this assignment went well and I did a good job on finding all the information I needed. This assignment could’ve been better if I looked deeper in Achondroplasia and more specifically looked at the gene and its mutation. I think that this information fluency process could be helpful a lot in life especially when I get a job when I’m older because most jobs involve looking for information and researching. This process could also be used more in school when I’m doing research for any subject and I think that I will benefit from this in the future.