Cri du Chat Syndrome

I am known as the 5p deletion or the Cri du Chat syndrome. I am a genetic mutation caused by the unknown disappearance of chromosome 5. This mutation is believed to take place during the development of the sperm and egg together. During this process, the chromosomes start to divide up even more and they travel to certain numbered bands. Throughout their journey to the proper band, they could break off and a translocation would occur. This is when the chromosome 5’s, my chromosomes, split up and rearrange themselves and then they find a new place to relocate or, in some cases, they disappear. Now depending where I decide for these chromosomes to go, the severity of my syndrome may worsen a lot. No doctor has found an answer to me yet, never mind ways to prevent me. All they know is that my syndrome is produced from a missing piece of chromosome 5 and that’s where it all goes wrong.

My host, Sophie was born today. She is one of the 20,000-50,000 newborn babies that I affect all the time. Her parents had tested the amniotic fluid in the first trimester of pregnancy and they found out that she was going to have the Cri du Chat syndrome while she was still a fetus. When she was born, she had a very low body weight, a small head, widely set eyes, and a distinctive high-pitched cry like one of a cat. Little do her and her family know that Sophie will not only struggle with her outside appearance but her intellectual abilities as well.

As she grows older, her growth will be very delayed, She will have ears that are low on the sides of her head, eyes that are slanted downwards, and potentially partially webbed fingers and toes. She will struggle with her speech and everyday motor skills. As it turns out, Sophie was diagnosed with one of the more severe cases of my syndrome, as well as a heart condition, therefore she will have to not only have to see a speech therapist but she will need to learn sign language as well, since communicating with others will be a challenge. She will have trouble walking and depending on how much the deletion of my chromosomes have affected her, she may never fully be able to walk on her own. She will visit a physiotherapist to help strengthen her muscles and practice ways to keep her body as mobile as possible.

Since Sophie’s case of Cri du Chat syndrome was quite severe, I will have affected her life span because of the cardiovascular issues she obtained since birth. Sophie’s family will do their best to give her the best possible life by going to as many medical professionals as possible. They will lean on therapists for support as they all try to help her reach her fullest potential and give her the best life possible.

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The making of this mutation story started by a series of questions that I had proposed about the Cri du Chat syndrome:

What is Cri du Chat syndrome?

How many kids are born with this syndrome?

What happens to the chromosomes in this syndrome?

What are the causes of Cri du Chat syndrome?

What are some of the symptoms you may experience with this syndrome?

What are other signs of Cri du Chat?

How is this syndrome diagnosed?

Are there any forms of treatment for this syndrome?

How is the chromosome 5 typically made?

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Sources

https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome

https://medlineplus.gov/ency/article/001593.htm

https://www.genome.gov/19517558/learning-about-cri-du-chat/

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cri-du-chat-syndrome

https://ghr.nlm.nih.gov/chromosome/5#conditions

https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/

Sources for photos:

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

http://www.forgottendiseases.org/assets/CriDuChatSyn.html

http://simplebooklet.com/publish.php?wpKey=FYvqGkZS7qLe277cVKavJL

https://bhsgenetics2009.wikispaces.com/Cri+du+Chat+Syndrome?responseToken=bfabb32b3754a8d99b27774b83d2863e

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Creating the Story

The tools I used during this research process were:

US National Library of Medicine

National Human Genome Research Institute

Victoria State Government

NORD – National Organization for Rare Disorders

YouTube 

All of my information that I collected while doing my research were from sites online but my main focus for my research was to have credible information/sources. I made sure to verify and back up any of the information that I found from one of these sources and check it against another credible source. Luckily, I was able to find some sites made by the government that had some awesome information that I could include in my research. I made sure to only include the information that was being shared on multiple websites, not just one so that I could be sure that it was correct. I retained the most information possible from these sites and they provided me with excellent material, worthy of going into this assignment. I also made sure that the information that I included in the story was actually pertinent to Sophie’s life – I didn’t take any extra information just for the sake of using it. By the end of the research process, I had collected enough material that would be able to form a strong structured story, telling about Sophie’s life as well as a story that could educate others about such a horrible condition.

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Debrief

Overall, I think the process of creating this story went well and flowed pretty smoothly. I really enjoyed going into depth about the Cri du Chat syndrome, and by doing so we also got to analyze a real-life example of mutations. For the most part, I am happy with my end results and what I have discovered about genetic mutations but I think for next time, I should really have a good comprehension for the actual mutations (mitosis and meiosis) because I didn’t really understand them that well at first. This made it challenging for me to understand what was actually going on with the chromosomes. I eventually started to get it but it took awhile and stalled the research and writing process. In the end, I can definitely look back on my work that I did and say that I have a much better understanding for mutations, mitosis, and meiosis and that I completed a good assignment that has helped me have a feel for what actually goes on in our bodies.