Wiseman 1

Coping and Understanding Huntington’s

William Wiseman

Amanda Dusselis

Genetics

20 August 2018

The Intro:
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Johnathon Anthony Merkles was born on August 12, 2030. Johnathon was born

to two happy loving parents in a small hospital located in Wheeling, West Virginia. Life

was very simple for Johnathon, especially when he was younger. Johnathon was a

healthy baby, only having an ear ache until he was one year old. Johnathon’s parents

were both nearing their forties when he was born making him at a much greater risk for

a plethora of diseases. Chances of a baby being born with down syndrome are

increased and could be as much as 1 in every 353 babies born.

Johnathon’s father came from a family of hard working coal miners. While

Marcus, Johnathon’s father, came from a coal mining family he desired education.

Marcus achieved straight A’s at his small high school, achieving valedictorian. Marcus’s

high achievements in high school allowed for him to receive a full ride scholarship to the

University of West Virginia in Morganstown. Marcus chose to study international affairs

and pursue a law degree. Marcus’s high test scores and GPA from West Virginia

allowed for him to go to law school at a discounted rate. After finishing his law degree

Marcus began working at a courthouse in Wheeling as a public defender. After many

years of defending the innocent and guilty Marcus decided he could not truly make

change as a lawyer. Marcus decided he must run for a chair in office and secure it, to

achieve any true change in diplomacy.

Marcus however, was not a dumb man and knew he would need help to climb his

way up the executive ladder to eventually one day maybe become president. Marcus’s

love life has always been put on hold for studying or work and has resulted in him being

lonely. Already being 34 and having hopes of running for office someday, Marcus knew
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he would need a good woman to assist him in all his endeavors; it wasn’t until on May 4,

2028, Marcus found his true love.

Maya had almost the complete opposite childhood of Marcus. Maya’s rough

childhood started on the third day she was born. Maya’s mother, an alcoholic who was

only 19, left her outside of the fire station in Wheeling, West Virginia. The child

protective services in the area were rather lazy and never truly listened to Maya’s

complaints. . The first house Maya was placed in had seven other foster kids, all boys.

Being the only girl she was the easy target for bullying and horseplay.

After three years of bruising Maya’s agent finally listened to her and moved her

homes. She was moved to a wealthy family for one year. That year Maya lived like a

queen and had every toy and treat she could desire. The family was sad to let her go,

but Maya’s mother had resurfaced from guilt. Maya’s mother had just got out of jail and

got a minimum wage job at a grocery store attempting to turn her life around with her

daughter. Maya, being in second grade, understood some of the illegal activities her

mom was participating in and knew her situation was much worse in her mom’s

neighborhood then her last foster home.

After two years of eating on scraps with an in and out mother Maya was finally

taken by child protective services to be put into a new school system with a new family.

Maya’s new family was nice however, the ten kids made the house a breeding ground

for fights. Three of the kids, being biological children of the foster parents, always

reigned over the foster kids and got them in trouble with their parents. Maya understood

they were jealous of their parents giving attention to the foster kids.
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After being switched in and out of 5 schools Maya finally turned eighteen and

earned some say in how she'd like to spend her life. Maya luckily earned a scholarship

for orphaned children to Wheeling Jesuit University to study journalism. After finishing

her degree she decided to do some overseas journalism. Maya spent a long 3 years in

Afghanistan traveling from village to village documenting how the civilians feel towards

American soldiers.

May fourth 2028 was a rainy warm and humid day in Wheeling, West Virginia.

Marcus began his morning with toast, as always, and he had plans to attend a concert

with his friends later. Due to the horrible storm conditions, Marcus and his friends were

forced into a small tavern called the Broken Shell. Marcus immediately noticed a woman

around his age and as beautiful as a butterfly behind the bar upon entering the quaint

tavern. Marcus stole a look at her small tattered name tag and read, Maya. After Marcus

and all of his friends enjoyed a meal and downed a few drinks Marcus began to gain

confidence. After his long warm up ritual of nerves, Marcus approached Maya with a

grin on his face. After a small awkward conversation about the weather, Marcus

achieved his goal of getting Maya’s number. After the night at the tavern Marcus and

Maya have not looked back and that has led to their child Johnathon.

The couple’s life was perfect with their new healthy baby Johnathon for nine

years. Johnathon was old enough to understand when something was wrong with his

parents. Maya, being 48, started to act a little differently around the house and Marcus

was one of the first to notice. One of the first things Johnathon and Marcus noticed in

Maya was her personality changing. Maya, who is usually patient and calm, was

bursting out over small incidents; such as a light being left on. After a year of
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unexplainable but not constant outbursts Marcus thought maybe she should see a

doctor.

The couple scheduled a visit to their family doctor, Doctor Nickels, to examine

Maya. In a raw physical of Maya the doctor could not find anything prominent at first and

found the outbursts strange. The doctor then bagan to ask Maya about her family

history. Being a sore subject for Maya still, she said quietly “I don't remember my mom

or dad”. After hearing this information, Doctor Nickels decided it’d be better he just

screened her for many diseases to establish a baseline due to her lack of family health

history.

Stage One:

After numerous tests coming back negative, Doctor Nickels began to think

outside the box. Due to her lack of familial history, Doctor Nickels decided to test Maya

for Huntington’s Disease. Doctor Nickels suggested Huntington’s Disease could be the

culprit because of when the disease actually begins affecting its victim. Huntington’s

disease, being a delayed onset illness, is best diagnosed by direct genetic test.

According to the National Institute of Neurological Disorders and Stroke, the direct

genetic tests, “counts the number of CAG repeats in the Huntington’s Disease gene,

using DNA taken from a blood sample”(NINDS). Sadly for Maya and her family, the

genetic test for Huntington’s Disease came back positive. Doctor Nickels explained to

Maya that she has entered what medical professionals call, the first stage of

Huntington’s. In the first stage of Huntington’s Maya would be allowed to stay home and

still operate a vehicle for around 7 more years, while being monitored closely. Doctor
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Nickels also had to break the news to Maya that there was no known cure for

Huntington’s even though it was discovered in 1872, by George Huntington.

While Maya was the only one tested for Huntington’s Disease, Doctor Nickels

explained Johnathon most likely also has the disease because it is genetically

dominant. Doctor Nickels also explained that only one parent needs to contain the lethal

allele for it to be passed. Maya and Marcus were scared about how to break the news to

Johnathon and were afraid to tell him the horrific news so soon. Johnathon’s parents

also don’t think he would be able to understand a disease that eats away at your brain

and how doctors can’t cure his mom or him. Due to these worries they decided to keep

it quiet from him until he was a freshman.

Being 14 years old, Johnathon had grown a lot and noticed his mother’s

episodes were more often than before. He knew after his middle school health and

biology courses that symptoms his mom was demonstrating could mean a disorder.

Johnathon the summer of freshman year was growing weary of his mother’s health, yet

he did not know she was at the doctor's office multiple times monitoring her condition

which is starting to enter the second stage of Huntington’s. After Johnathon’s pleas to

his mother to see a physician, Marcus and Maya decided they needed to have the talk

with Johnathon. Maya ordered Johnathon’s favorite deep dish pizza and they all sat

around the table, the air thick with tension. Johnathon could read his father’s flushed

face perfectly, he was about to receive very bad news.

Stage Two:

Johnathon didn’t cry when he heard the news that he most likely has the disease,

but more for his mother who is entering the second stage of Huntington’s disease. The
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second stage of Huntington’s is called the Early Intermediate. Maya’s condition

deteriorated exponentially in front of Johnathon’s eyes. Maya began to develop chorea

from Huntington’s. Chorea is an uncontrollable movement in multiple areas. At this point

Maya could barely be trusted alone and entered stage 3 in only 4 years, when the

average is three to thirteen.

Stage Three:

Marcus was determined to find his wife a cure and even began looking for

experimental options. Doctor Nickels explained a lab in India experimenting with stem

cells and said it could be their best chance of a cure. Saini and her colleagues, in the

Department of Pharmacy, Pranveer Singh Institute of Technology, Kanpur, U.PIndia

believe stem cells could be the answer, “Stem cells are the undifferentiated cells in the

body that possess the ability to differentiate and give rise to any type of cell in the

body”(Saini). In the third or late intermediate stage Maya was almost never happy.

Marcus would bring Maya’s favorite meals home and she would not eat. Maya could no

longer drive because her ability to process became much slower with the third stage.

The third stage only lasted 5 years for Maya and Johnathn had just entered his last year

of college when Maya was diagnosed with stage four Huntington’s disease.

Stage Four:

The fourth or Early Advanced stage, was very hard on Marcus because Maya

was almost completely dependent. After a year of Marcus attempting to take care of

Maya he had to decide between running for office or caring for his ill wife. Marcus

decided he’d 0only stay as mayor and not run for president due to his wife’s condition

and have a nurse with her at all times. Maya spent about four years in stage four and in
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her last year Johnathon met a woman he grew very fond of. Johnathon did not know

how to break the news to his girlfriend that he has a neurodegenerative disorder that will

cut his life span almost in half. After a full year of dating and becoming very close,

Johnathon decided he owed it to Sara to tell her his and his mom’s condition.

Stage Five:

The advanced stage of Huntigton’s was the most brutal on Johnathon. Maya’s

extreme loss of cognitive capabilities showed her time was coming. The day Maya was

diagnosed with stage five Huntington's he explained to Sara the severity of the disease

and if they were to have kids they would most likely be afflicted. Maya never faced this

dilemma because she never knew one of her parents had the disorder. Maya began

demonstrating symptoms of parkinsonism a year after her diagnoses. Parkinsonism can

affect movement speed, stiffness, teeth grinding, and abnormal limb postures. Maya

chorea’s also began to increase in severity. Maya practiced her procedure for when a

chorea begans often to reduce her risk of injury. After eighteen years of experiencing

symptoms, Maya passed away at 64. After watching all of the hardships his mother

went through Johnathon grew scared of having kids with the same fate as him and his

mom before they were even born. Sara however had a deep desire for children so the

relationship sadly ended when Johnathon explained his hesitations to not pass his lethal

allele on. Johnathon then dedicated his life to raising money for stem cell research

specifically for curing neurodegenerative disorders.

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Works Cited

Cepeda, Carlos, and Xiao-Ping Tong. “Huntington's disease: From basic science to

therapeutics.” CNS neuroscience & therapeutics vol. 24,4 (2018): 247-249.

doi:10.1111/cns/Pubmed.12841

Mumal, Iqra. “Stages of Huntington's Disease.” Huntington's Disease News, 22 Jan.

2018, huntingtonsdiseasenews.com/stages-of-huntingtons-disease/.
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National Institute of Neurological Disorders and Stroke. “Huntington's Disease: Hope

Through Research.” National Institute of Neurological Disorders and Stroke, U.S.

Department of Health and Human Services,pubmed

www.ninds.nih.gov/disorders/patient-caregiver-education/hope-through-

research/huntingtons-disease-hope-through.

Saini, Aryendu, et al. “Stem Cells: A Review Encompassing the Literature with a Special

Focus on the Side-Lined Miraculous Panacea; Pre-Morula Stem Cells.” Current

Stem Cell Research & Therapy (Pubmed), U.S. National Library of Medicine, 11

Mar. 2020, www.ncbi.nlm.nih.gov/pubmed/32160851.