MUTATION STORY: Familial Dysautonomia
Part 1: The Story
Hi, my name is Riley-Day, I was born yesterday in the nervous system of a baby Jewish boy named Abarron.
I go by many names. To some I’m known as Familial Dysautonomia, FD, HSAN Type III, HSAN3, HSN-III. To Mr and Mrs Dreyer, I am known as the genetic disorder that is killing their son. All this doesn’t matter much to me, for I have only one purpose in my life, cause crisis. I cause this new born baby to struggle, I make sure his nerve fibers never work like they should have. I now control his bodily functions, and leave him with little help.
I made it here because of his parents. They carried the mutant gene IKBKAP. By chance, I was born in Abbaron. How lucky is he, he is 1 out 27 Ashkenazi Jewish children to host me. Abbaron carries two copies of the same IKBKAP gene mutation in each of his cells. I, the mutation, cause a disruption in how the information in the IKBKAP is pieced together to make a blueprint for the production of IKAP protein. Abbaron’s cells produce a reduced amount of IKAP protein. I make sure the creation of protein is inconsistent, some cells produce normal amounts, whereas his brain cells have little protein produced. Created to eat away at this infants life, kill and disturb nerve cells, until the autonomic crisis’s become completely uncontrollable and he is helpless. And I aim to succeed.
There’s so much to accomplish in so little time. As a baby, Abbaron is a handful. He doesn’t cry as much as other children do, I don’t let him. His eyes stay dry. His mother will struggle with breast feeding, it breaks her heart to see my host unable to feed properly, staying hungry until the doctors have to tube feed him. The Dreyer’s are loving parents, though. They don’t give up in trying to give Abbaron a normal childhood. 
When he doesn’t learn how to walk right away, they try harder, it won’t work though. I’m keeping his growth slow and his muscles weak, one childhood milestone forever lost. He won’t learn how to speak until he is 8, starting with a couple of simple words here and there. His parents worry and always keep consistent watch over him, never knowing when he will hold his breath and when he will faint. He will be forever dependent, the poor kid doesn’t have any control over this. He develops scoliosis. Any sort of dream in sports is lost when they realize, after he starts walking a little, he can barely hold himself up without losing balance.
Preschool started, and so did the hospitalization. With repetitive lung infections, breathing wasn’t as easy anymore and he now required help. I had taken from him what came naturally to others. I also brought lack of sleep to his mother, she had to wake up in the middle of the night to help him stop from choking on his vomit. For his birthday present, they bought him a puppy. Oh, how the excitement filled him, but I caused him high blood pressure and he lost control of his breathing.
I sometimes began to feel a little bit bad. Abbaron will attend kindergarten, but more often the doctor’s office. They pump his with medication to prevent the pain but they cannot get rid of me. I am his mutation, I will conquer. I’ll keep destroying until there is nothing left, until he no longer has any control over his autonomic functions.
He cries to his mother and begs her to have it stop, to make me stop. He is short, speaks funny, sweats too much, he can’t taste food due to having lost his taste buds, he won’t stop drooling, he is skinny, he can’t sleep, and oh does it continue. He becomes sick of it, sick of the taunting from his classmates for being different, sick of the hospital visits. He wants me gone, like I am a virus or bacteria that can be treated, he doesn’t realize I am part of him. There is no treatment for me, I am his battle to fight, and his battle to lose.
He loses reaction to pain and temperature, he can get over heated or cold quickly and won’t notice until he realizes how sweaty he is or how much he is shivering. Now he is losing his sight. All hope is lost for him. What else can he lose, he thinks, what else does he not have control of? His bones are weak, and he fractured his arm again. 
His fifteenth birthday is around the corner, and he celebrates it in the hospital bed with a failed kidney. His autonomic nerves are completely unstable at this point. The Dreyers will cry when he stops breathing, though they hoped I had taken him sooner. For so long did Abbaron struggle because of me.
At 15, I had finally won.
Part 2: The Making of the Mutation Story
- What questions did you need to research in order create your mutation story?
- What is Familial Dysautonomia? What does this mean?
- What does it do?
- What are the symptoms?
- What are the life time affects?
- How is it caused? Where does it come from?
- Are there treatments?
- Is it fatal?
- How many children are born with this mutant gene?
- Is it a gene that runs through certain ethnicity or found in a certain area of the world?
- How is FD diagnosed?
- How often are there hospital visits?
- How severe can it get?
- What new or familiar digital tools did you use while working on this project?
- I used clinic sites.
- I used foundation sites.
- I used Wikipedia (only the information that was cited).
- I used the experience from a loved one and their struggle with a life threatening mutation to relate to this mutant gene on things like how it affected their life and how they struggled with it.
- What was the process you used to investigate this topic?
- I read through many online sites.
- If I didn’t understand something, I would look into its definition.
- I made sure I answered all my questions and I understood the mutation enough that I could explain it to someone else.
- How did you verify and cite the information you found?
- The sites I used were sourced and reliable.
- I used sites that specialized in the mutation.
- My sources are listed down below.
- How did the process of completing this challenge go? What could you have done better?
- The assignment in my case wasn’t difficult. I am good at writing and it comes easy to me. Also, I had some good sources so I was able to fully understand the mutant gene. I think one little problem I had was I left this project to last minute because I knew it wouldn’t be that hard for me to write up. Last minute for me was on a Sunday. Having lots do to, I found myself worrying if I’d get enough time to write my story. Luckily I did find enough time to put in effort and was able to complete it on time. Next time, I shall hope to get a head start on writing the assignment.
Sources:
http://www.familialdysautonomia.org/facts.htm
https://ghr.nlm.nih.gov/condition/familial-dysautonomia#inheritance
https://www.drugs.com/health-guide/familial-dysautonomia.html