Written by Audrey (AJ) Jones, Turner Syndrome Foundation (TSF) intern and researcher.
AJ is an anthropology PhD candidate at Emory University. She has been studying Turner Syndrome (TS) and working with the TSF since 2016. After completing her Princeton University Bachelor thesis on TS communities, she is now exploring how ideas about gender and disability relate to the lives of patients with her latest TS research project on their diverse experiences with the condition. She strongly believes that creativity, activism, and education are central to research.
In this post, AJ shares what she has learned about TS over her four years of research. She discussed how immersing herself in the community painted a beautifully diverse picture of the lives of women and girls who have TS. She also shares some main takeaways from her perspective as a researcher, gaps in the research, why she continues researching TS, and what she hopes to see change in the future. Keep reading to learn more about AJ’s research jouney.
Beginning of the Journey
Turner Syndrome is not a one-dimensional experience you might read about in a textbook.Audrey (AJ) Jones
Learning about Turner Syndrome
Like many people involved with the TS community, I did not know anyone personally who had the condition before doing research, so it was sort of happenstance. I was taking a molecular biology class as a Princeton undergraduate student. There was maybe one slide about Turner Syndrome that one of our professors briefly addressed.
I thought: Wait; hold on. You know, what was that condition they were talking about? I’ve never heard of that! At that point, we had to do a junior research project paper. So, I thought: Oh, perfect opportunity to go back to this condition that I don’t know much about! And then I worked on a small, online research project.
That is how I first found the TSF, because, obviously,the organization has a wealth of online resources! I watched some of the videos that women in the TS community have done and used them in the project.
New Realizations about Turner Syndrome
At first, I became interested in TS through the lens of infertility. So, I asked women, “What has your experience with infertility been?,” if they were comfortable sharing. Even within the first few interviews, they were telling me so many other stories. They told me their medical journey, how they found TSF, and the community that they had built.
After my initial research, the project really started to expand to have more of a focus on TS communities, as well as advocacy and how that that played an important role in patients’ experiences.
What I learned was presented in my thesis for my Bachelor Degree. In my paper, I essentially noted that having TS is not a one-dimensional experience that you might find in a textbook. It is not like how I saw it at first. In reality, there are so many diverse experiences that shape how we think about not only womanhood in the U.S., but also about community and advocacy.
Current Turner Syndrome Research Gaps
A couple gaps jump out to me that I have realized as I continue my research project. There are many problems that make it difficult to research medical conditions like TS. One is that people must be diagnosed to even participate in research with doctors or nonprofit organizations. There are probably many girls and women who are undiagnosed, too, making conducting TS research even more difficult.
Another problem is the lack of economic and racial diversity of the women I have been able to speak with. I think part of that is a lack of resources, which is a larger problem in our country. This shortfall creates a lack of diagnoses. That is something I would love to research, but it is hard when you can only talk to people who are already diagnosed.
There is another medical issue that I think social science could look into, which is to better understand what doctors–geneticists, in particular–are telling parents when they diagnose fetuses with TS. I think there are still a lot of misconceptions, even from some doctors, about what TS actually is. Doctors could do a better job at providing resources to parents. When they get that diagnosis, doctors should tell their patients, “Here’s the TSF website. You can go there, learn so much more about what the condition is, and talk to women who have it.”
Medical, Psychological and Social Aspects of Turner Syndrome
Another issue I would like to highlight is the multi-faceted nature of TS–medical, psychological, and social. I think all of these things are really important to girls’ and women’s overall health. The social aspects of the condition should be addressed more in research, since I think that gives a well-rounded approach to care. Interviews are one of the best ways to capture all of the different stories and learn about the various ways people can be impacted. There is still much room for improvement regarding things like TS medical treatments, even though they have improved a lot.
I have spoken with many patients–from young girls to older women–with TS. You can actually see the positive impact that more medical and psychological research has brought to the younger generation’s lives.
Committing to Turner Syndrome Research
Part of why I’ve continued my TS research is that I want to give back to the community in a bigger way than doing just one research project for myself and leaving it at that. I want to build a relationship between my work and the women who have so graciously given me their time for my research.
Another issue is the lack of research in the U.S. to begin with. I believe we need more research to understand where we are as a country.
One of the reasons I decided to stick with TS research is that there is a lot of information that TS is uniquely poised to offer us in terms of gender. I believe women with TS exhibit effective ways for all women to break down stereotypes. It shows the diversity of experiences that exists instead of these ideas that we have in our heads.
There are so many diverse experiences that shape how we think about not only womanhood in the U.S., but also about community and advocacy.Audrey (AJ) Jones
I have learned some important lessons during my Turner Syndrome research, including:
- Once I started talking to people, I realized how short-sighted I had been. I realized how little information I had before talking to these women. When I started researching, I had come to the table with assumptions about experiences of infertility. As I have gotten to know women with TS, it is inspiring to see how they break down stereotypes of womanhood, while also finding other ways to be mothers and expanding our ideas of motherhood.
- The experiences of girls and women with TS are incredibly diverse. Even from a basic medical standpoint, there are so many different characteristics patients can have, which vary greatly. There are also differences in how the different generations experience TS, which is a very important part of my research, as expressed by the multiple girls and women I have interviewed. As I mentioned above, more research has had a positive impact on youth with TS, in terms of Growth Hormone Treatment and being earlier diagnosis.
TSF’s Role in Turner Syndrome Research
When I first started my research, TSF was very happy to help me and has continued to be very supportive of my research. Initially, TSF helped me recruit participants, because the organization has so many contacts within the Turner Syndrome community.
As I completed my research project while volunteering by writing blog posts, I found that being part of TSF also helped me with my research. It wasn’t just about the recruitment; TSF also gave me a better perspective about the larger TS community and the different kinds of advocacy and education taking place. All of this information played a big parat in my eventual thesis.
Overcoming Lack of Public Research Accessibility
A great deal of research is published in academic journals, which are largely inaccessible to the public. Some journals have changed over time, but not enough. Even though I am lucky enough to have access to a lot of this research, I have a hard time sorting through all of it.
For people to access new research, TSF and other nonprofits play a critical role by linking them to their websites. If you have a doctor who works with patients who have TS, they can help, as well. It is a larger issue, but reaching out to the people who can help is the best way to access new research.
To share my research, I am writing articles that I hope will reach a wide audience. I also facilitate and attend local events and conferences, which has increased the accessibility of my research. Incorporating theater into my research also makes it fun for the participants and allows us to reach a broader audience. Last summer, I did a shorter version of the More Than Just the Two Percent performance to test out the process. After getting the participants’ permission to share it, the video is now up on YouTube.
Looking to the Future
There are a couple of things that still interest me that are not within the scope of this project but that I hope to dive into in the future:
- Comparing the infertility experiences of women who have TS with those who don’t could be an interesting future project. It would be enlightening just to think about the different options and education offered to women who are experiencing infertility.
- I would also like to gain a better understanding about how women find one another and form communities, a frequent topic in my interviews. I would like to better understand how the interaction happens, partly because a lot of it happens quite successfully virtually. For women who live in rural areas or cannot travel, being able to find others with TS online is a powerful tool.
I hope that people are inspired by my Turner Syndrome research journey.
TSF has enjoyed working with AJ over the past four years. We love supporting her and many other researchers who are paving the way to a greater understanding of TS and improved patient care.
AJ is currently conducting research that anyone can get involved in! View last week’s blog post to learn how to participate.