On an ordinary day in Vancouver, Canada, there is a happy couple living at a house who are expecting a child. Unexpectedly, the day has come, on April 4, 2016, we welcome Penelope Garcia, but she seemed different than any other child. The doctor had take her to be examined, they had brought her back to the parents and announced that she has Cornelia de Lange Syndrome. Everyone were very confused, they were not aware of the syndrome. As minutes past, the doctor had given more information about the disorder. “Cornelia de Lange Syndrome is a developmental disorder that affects many parts of the body and they vary from a range of relatively mild to severe” explained the doctor. Couple years gone past and Penelope is as happy as ever. When she had grew up through out the years, we had recognized her features. Penelope, have a slow growth before and after birth leading to short stature, she has an intellectual disability that is usually moderate to severe, and last but not least, the abnormalities of bones in the arms, hands, and fingers. One day, Penelope’s friends from school were curious and wanted to know more about the Cornelia de Lange Syndrome, where once they had asked what caused the disorder to appear. The parents did not really understand how but they believed that one of the gene on chromosomes 5 that had caused the disorder when it was mutated. Some additional genes had been found from researchers that had also caused Cornelia de Lange Syndrome when they are changed. Unfortunately, Penelope grew up with stares. On an everyday bases she had gotten stares from various people, from school, stores, parks, and anywhere she went. She has unique facial features, that includes having arched eyebrows that sometimes meet in the middle, long eyelashes, low set ears, small and wide spaced teeth, a small and upturned nose, and lastly she has a small head. Penelope loves to attend school and play with her friends, but it is sometimes hard for her to get through the day without being upset and sad. Unlike others with the same disorder, she has the ability to hear. When ever she wanted to stand up for herself, she has difficulty to communicate and have any social interaction with people, because Penelope has behavior problems which are similar to autism. Today she had chose to tell a story about her life and how she gone through the disorder to her friends. Penelope had difficulty but achieved the goal of getting the story out. She began, “my life on a regular day are full of stares from stranger and having to go to the doctors every couple weeks”. “My favorite subjects in school are English and Science, I absorb all the points in class, but it is hard for me to put my hand up and participate the class discussions”. She ended with the conversation with, “but I continue to learn and try the best, and try to ignore the all the disrespectful people in the world”. Her friends were so proud of her they had felt sympathy, but happy for her bravery. They got up and gave her a huge hug. It is 8pm, and it was time for her to go to sleep. She then went to get ready for bed, and tucked in to her cozy bed with the moonlight shining through the window. Penelope was ready for a new day.

The Making of Mutation Story

I had to research the different affects of the disorder and what had caused Cornelia de Lange Syndrome to appear in one self. I had also needed to research what they have to go through when it comes to mental ability. I went of Youtube and looked for some videos of different people around the world who has the disorder with come information I had needed. Next I went to the school library and the local library, reading some books about Cornelia de Lange Syndrome. The last researching tool I had used that helped me with the project, I asked my sisters friend who is a doctor that had studied some of disorders, and conveniently she had studied Cornelia de Lange Syndrome, so I had asked some questions I was in need for the project. When I had went on Youtube to investigate the information I had collected, I made sure to see if other videos had pretty much the same information, and I had compared some books as well at the library. I verified my information from my sisters friend, who I had introduced you a little bit at the beginning. She is a doctor that had studied different disorder, and one of them were Cornelia de Lange Syndrome, and so I made sure all the information I had were correct. I think that I did quite well collecting all the information for the project, and I feel like I should have expanded a little bit more, but overall I feel confident with my work.