MUTATION STORY

Olah kumusta everyone! I will begin introducing myself by giving some descriptions.  Try to guess who I am? Your welcome to use anything you want to search for me. Are you ready?

*I am a rare metabollic disorder affecting 1 in 500 to 1 in 50,ooo.

*I come in really fast/ sudden.

* No one knows when the liver reacts to my trigger or attack.

*The meaning of my name is ” PURPLE” and it came from  Greek.

Do you know who I am yet?

YES…!

NO..!

MAYBE SO!

Okay, One more hint…

*I  create a yellow to red urine during my attacks. (It turns red after exposing to sunlight).

Did you finally figure it out who I am?

If YES, you rock!!! hooray!!!

If NO, that is okay.

As what I said earlier, I am rare metabolic disorder and doctors even have difficulty figuring me out because my symptoms resemble those of many common conditions. Now  I can reveal myself to you. I am Acute Intermittent Porphyria. I am also known as AIP. My disorder is inherited because of a single abnormal gene from one parent. I exist because of deficiency of the third enzyme.The researchers/medical experts described me as “AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase.^[1] The deficiency of PBGD is caused by a mutation in the HMBS gene. “

 

You know what? I can make someone who has me, Acute Intermittent Porphyria (AIP) scream on top of their lungs because of the pain that I cause them. At the beginning of my attack, I show symptoms of severe acute abdominal pain, with nausea and vomiting, pain in the back, arms and legs, muscle weakness, fast heart rate, high blood pressure and urinary tract issues. Even confusion, hallucination and seizures are present at some time.  It’s not only that, I can cause anyone who has me (AIP) to have unusual behaviour because of confusion. The worst part is, I am able to make someone who has me (AIP) to lose control of his physical existence during my attacks because the muscles can be affected and it became weak and that cause paralysis, I discontinue to attack and I develop over two or more days.

The cause of my attacks is alcohol consumption, hormonal changes (occurs naturally during puberty, menopause) medications, infections and low-calorie diet. Well, the most common age for my attacks is from the late teens to the early forties. Very rare for me, Acute Intermittent Porphyria to attack children before puberty. Females are more likely to suffer than man.

Hey, folks, you can avoid me by following a healthy diet, refrain from fasting, alcohol, drugs that affect the liver functions. Avoid physical and emotional stress and exhaustion. A patient who I attacked is hospitalised for treatment. Doctors will start asking questions about my symptoms, then the patient’s family history and run series of test for example urine, stools and blood samples to identify what are the treatment that is best for the patient. My symptoms and severity vary from my victims. Others who has me (inherited me) never had a symptom. 

 

I would like you to watch the video of “Katrina Lammertz” of Germany. Katrina has me; Acute Intermittent Porphyria. She has most of the symptoms that I described earlier. Katrina will also tell something on how does she gets affected by me and how does she cope up her life. Katrina also left a  message about porphyria on the last part.

 

Part 2

1. What questions did you research in order to create a mutation story?

The questions I researched to create a mutation story were: What is Acute Intermittent Porphyria? How does AIP affect the person who has it? Is there a cure? How is it treated or diagnose?

 

2. What new or digital tools did you try to use as you worked through this project?

The digital tools that I used for this project were mainly Google and Youtube.

 

3. What was the process you used to investigate the topic?

I have used different sites to compare the information.

 

4. How did you verify and cite the information you found?

I verified and cited the information that I found by searching many websites. Some websites even cited some links related to my topic. I also watched some Youtube videos regarding the people with AIP. I carefully select the information that is the same from one site/ videos to another. Some of the sites that I visited were:

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP

https://rarediseases.info.nih.gov/diseases/5732/acute-intermittent-porphyria#ref_690

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

http://www.porphyriafoundation.com/dr…

http://www.porphyriafoundation.com/treatment.

http://www.ncbi.nlm.nih.gov/books/NBK1193/

 

5. How did the process of completing this challenge go? What could you have done better?

Honestly, I found it very difficult. Too many information on the web and I have difficulty to comprehend/understand. I have to go back and forth to find the meaning of every word that I don’t understand to make sure I will come out with the right information and good understanding of the subject. Examples: heme, gene, enzyme, deficiency and a lot more.