The Life of a Genetic Mutation
Josh Secrieru
Mutation: XXXX Syndrome
Part 1
It all happened when I was 14 years old, I found out I had Tetrasomy X. I had since I was born, but I never realised until the symptoms started to happen and realising I wasn’t normal. Since only 100 women world wide has been known to this mutation I wasn’t the lucky one, I would say. I know what your thinking what is Tetrasomy Syndrome? It is an uncommon chromosomal disorder cause by the existence of four X chromosomes, this state only happens to girls and women. Tetrasomy X equals a defect in Meiosis (chromosomal aneuploidy). This might happen if egg or sperm fail to move apart in the formation. Well as you know it’s an uncommon mutation or disorder, but it is neutral disorder. The symptoms aren’t death threatening but it is still mildly bad. There are many symptoms for this disorder, but I was lucky to have just a few. The types that I have are epicanthal folds, small mouth, hypotonia, speech delay, long legs and arms, nervous system and myopia. As you can tell I must sound like a freak to you, but compared to what other people have I should be thankful. I was also lucky to function like a normal person, although I was placed on estrogen treatment which helps my bone formation so I don’t get osteoporosis. When I was 11 I was placed on a couple of different sessions of Physical Therapy to help me as I get older but so far I am good. As I began to grow up looked a little odd but I was treated normally and kindly, I am now 19 years old and happy.
Part 2
Ask, Acquire, Analyze, Apply and Assess
The way I got most my information was googling. Some new tools I discovered that were a big help was Siri, Siri was my go to for information, I just had to ask her a question and boom there was the answer. I highly recommend Siri for educational, extracurricular and recreational uses. What I could have done better was, how I would ask Siri what to research and asked more questions about my research. The best process I used was Ask, Acquire, Analyze, Apply and Assess, which was ask Siri my question, then acquire my information, apply it in my own words, read it over and fix any errors. Siri is an apple computer that you can talk to and she responds.
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