The Reflection

When I began this project, my main goal was to simply raise awareness about Turner Syndrome. After conducting my survey and realizing that virtually no one has even heard of Turner Syndrome, I found that it is basically the most important issue surrounding the disease. Some could argue that funds need to be increased in order to make people listen, but how can you get more money if there isn't anyone to donate it?

Even further than that, the money isn't even the second largest issue. From the Turner Syndrome Society of the United States website, I noticed that they have an entire section devoted to volunteer work. It ranges from board membership to basic volunteerism and they hold events in a few states, as well as conferences. The problem with the events is that they are scattered throughout the nation. From one in West Michigan to one in Los Angeles, they vary. The hope, for me at least, is that one day they will be in every state and maybe in a few cities in each state.

As far as the activism portion of the project went, I started with the mentality that it was stupid and pointless without the funds to make an actual dent in the knowledge people have of the issue. I couldn't have been more wrong. Despite the fact that my activism didn't push very far past the walls of my residence building, I taught people something. I would talk to my roommate and my boyfriend daily about Turner Syndrome, telling them what I had learned during my research that day. The spark of hope I had was the fact that my roommate knew what it was from her Child Development class, which meant that there were at least 50 people each quarter that were learning about Turner Syndrome. If this hadn't been just a 10-week project, maybe I could have made a plea with the University to make Child Development a general education class for all majors.

The Challenges

The Schillings


Despite the short stature and smaller features, girls that are affected by Turner Syndrome face more emotional and psychological challenges. There aren't any government officials or activists backing these girls up, but there is a support system that they must rely on more than anyone else: their family.

It's important for parents and siblings of the young girls to understand what their daughters will be going through during the difficult lifestyle changes they will face. They need to know their role as support and practice patience.

• Your daughter needs more frequent trips to the doctor's for well-child check-ups and for specific medical conditions.
  
• Your daughter probably has to take growth hormones and endure a schedule of shots because of her short stature. She may have started taking estrogen at an early age.
  
• She may be having difficulty with motor coordination, visual spatial intelligence, and social interaction.
  
• She may be struggling with math, but have an advanced vocabulary for her age.
  
• She might look at little different: in addition to her short stature, she may have edema or a webbed neck or a weird hairline.

What's the secret ingredient? A positive attitude.

The Bibliography

1. Ross, Judith. "Turner Syndrome." Teens Health. N.p., 08/2005. Web. 1 Jun 2010. .
2. Ross, Judith. "Turner Syndrome: Toward Early Recognition and Improved Outcomes." Medscape CME. N.p., 03/12/2002. Web. 1 Jun 2010. .
3. Turner Syndrome Society of the US. N.p., 2010. Web. 1 Jun 2010. .
4. "Turner Syndrome: Childhood Issues." Turner Syndrome.com. N.p., n.d. Web. 1 Jun 2010. .
5. Sybert, Virginia, and Elizabeth McCauley. "Turner's Syndrome." New England Journal of Medicine 351:1227-1238.12 (2004): n. pag. Web. 1 Jun 2010. .
6. Doswell, Brandy, Jeannie Visootsak, April Brady, and John Graham. "Turner Syndrome: An Update and Review for the Primary Pediatrician." Clinical Pediatrics (2006): 301-313. Web. 1 Jun 2010. .
7. Hall, Virginia, Virginia Sybert, Roger Williamson, Nancy Fisher, and Susan Reed. "Specialty Conference: Turner Syndrome." Western Journal of Medicine (1982): n. pag. Web. 2 Jun 2010. .
8. Bondy, Carolyn. "Genetic Features of Turner Syndrome." Eunice Kennedy Shriver National Institute of Child Health and Human Development. National Institutes of Health, n.d. Web. 2 Jun 2010. .
9. Frias, Jaime, and Marsha Davenport. "Health Supervision for Children With Turner Syndrome." Pediatrics 111.3 (2003): 692-702. Web. 2 Jun 2010. .
10. "A Study to Evaluate Subjects with Turner Syndrome Treated with Growth Hormones." ClinicalTrials.gov (2010): n. pag. Web. 2 Jun 2010. .

The Event

Living in a dorm hall has a long list of disadvantages and annoyances, but one thing that can be quite convenient is that you have an entire building of students at your disposal.



I organized an informational session in the lobby of my building, Wilson Hall. I hung fliers throughout the hall and sent out a Facebook invitation to the people whom I knew in the building.



I began the session by asking the same questions that I put in the survey below. Only two of the five people that attended had ever heard of Turner Syndrome, but had never met anyone with the disease.

Along with the informational session, I created a survey to discover exactly how few people know what Turner Syndrome is let alone if they have ever heard of it. I distributed it on Facebook to OU Students to get an idea.

Click here to take survey


Response Summary

Total Completed Survey: 20 (100%)

1. What is your gender?

Male: 10.0% (2)
Female: 90.0% (18)

2. What is your major?

1. Education
2. Education
3. Athletic training
4. Journalism
5. interior architecture
6. Exercise Science/Pre Physical Therapy
7. Journalism
8. Psychology
9. Political Science
10. none
11. none
12. Education
13. business
14. Digital Media
15. Broadcast Journalism
16. Journalism
17. Changing to early childhood education
18. Journalism
19. Exercise Physiology
20. Sociology/Criminiology

3. Have you ever heard of Turner Syndrome?

Yes 15.0% (3)
No 85.0% (17)

4. If yes, provide all the information you know about Turner Syndrome.

1. Makes a girls body frame smaller and have smaller features than others of that age
2. absence of a sex chromosome
3. It is a chromosome mutation where you only get one X chromosome, where you are supposed to have two. It only effects females.

5. Have you ever met or know anyone with Turner Syndrome?

Yes 5.0% (1)
No 95.0% (19)

The History

In 1938, an endocrinologist named Dr. Henry Turner studied a group of seven female patients that had been referred to him for either dwarfism or lack of sexual development. The patients ranged in age of 15 to 23. He found similarities between the patients and discovered that what had been mistaken for dwarfism was something entirely different.

In England in 1959, Dr. Charles Ford and colleagues discovered a 14 year-old girl with only one X chromosome (45, X). This became the first published report of a female lacking a chromosome.

In 1983, a study examining the use of human growth hormones in Turner patients began. By 1997, the use of most growth hormones had been approved by the Food and Drug Administration in the United States. By 2004, human growth hormones had become standard procedure after diagnosis of Turner Syndrome.

The Basics

The Turner Syndrome Society of the United States defines the disease as "a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome."

The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's.


Diagnosis

• A test called "Karotype" is performed on cells on the amniotic fluid before birth and on cells in the blood cells after birth. The test looks for abnormalities within the cells.
• Females born without TS have two X chromosomes (46, XX); while TS patients are missing all or part of one X chromosomes
• Half of the girls with Turner Syndrome have only one X chromosome (45, X) and another third have two X chromosomes but part of one X is missing

Typical Characteristics

• Short stature: untreated girls will grow to be only about 4'8" in adulthood, which is eight inches shorter than the lower average for females; at birth, the girls average height is 18.5"
• Premature Ovarian Failure: 90% of the girls will experience early ovarian failure and require Estrogen replacement therapy (which treats breast development, feminine body contours, menstruation, and proper bone development)

Physical Features

• Narrow, high-arched roof of mouth
• Receding lower jaw
• Low-set ears
• Low hairline
• Webbed neck
• Slight droop to eyes
• Lazy eye
• Broad chest
• Scoliosis
• Flat feet
• Short fourth metacarpals
• Edema of the hands and feet

Health Problems

• Heart issues
• Kidney abnormalities
• Thyroid
• Ear Infections
• Hearing Loss (which require some to need hearing aids early)

Treatments

• Growth Hormone Therapy
• Estrogen Therapy
• Fertility options

Cure

• NONE.....yet!

Photo Credit and information credit: turnersyndrome.org/

The Beginning

This project was made for my Women's and Gender Studies class. The intent was to choose a topic to become an activist for that had Women and Genders in mind. However, the true meaning of this project is to create awareness and gain support for a specific group of people. My meaning is named MacKenzie Schilling.

MacKenzie is my 7 year-old cousin. She was born with a virtually unknown disease, Turner's Syndrome. On the surface it means that she will be smaller than any typical female in her life. At 7, her baby brother already weighs more than she does. Despite this fact, Kenz is one of the most amazing human beings I have ever known. She is an avid cheerleader and could probably beat me at tee-ball. She is the happiest little girl you will ever encounter and is smarter than some of the people I graduated high school with. After my research into the subject, one of the major setbacks is the females affected by this disease tend to have severe emotional problems and although she will be eight in June, I know that Kenz will always keep that beautiful smile on her face.

Since there is currently no cure for Turner's but merely treatments to help make it somewhat easier to live with, I created this project for all of the little girls like MacKenzie.

When life gives you lemons, you make lemonade :)