by Cynthia Claxton, blog contributor for Leaping Butterfly Ministry
This blog post is an interview with a valuable nonprofit resource for the Turner Syndrome Community, Turner Syndrome Global Alliance (TSGA).
In this article, Kelly Ranallo, founder and president of TSGA, discusses how the Turner syndrome community benefits from TSGA’s efforts to create multi-institutional research opportunities.
What specific research efforts have been in development at TSGA?
We’ve been consistently reminded by girls and women and families within the TS community that research matters. TSGA is committed to support the TS community and facilitate their research needs.
In 2016, TSGA partnered with TSSUS and Leaping Butterfly Ministry to conduct and administer a survey to the TS community to understand what aspects of TS have the greatest impact on girls and women living with TS.
The results of the survey were different between the parents, TS girls and TS adults.
The survey found that parents are most concerned about the long term health and financial impact of TS on their daughter.
In addition, the survey identified areas of concern that need to be addressed by research including 1) Fertility and 2) Anxiety.
To impact research, TSGA was awarded a 2018 PCORI Engagement Award for $47,000 to bring together patients, advocates, physicians and researchers to identify unmet needs and build a research collaboration.
To fund research initiatives, TSGA is working to build relationships and collaborations with PCORI, the NIH, and other funders. It will take funding to create multi-institutional research opportunities.
In addition, TSGA brought together 10 clinic directors to discuss how to share clinical data for research.
TSGA Clinics are taking advantage of REDCap, a platform developed by Vanderbilt University and available to most universities and hospitals for free to support data collection for research. We recently funded Dr. Shanlee Davis at the University of Colorado to use REDCap to develop a TS specific database for research.
By partnering with clinics on this project, TSGA anticipates that there will be a large enough pool of data to interest researchers by the end of 2020.
There are currently 37 self-designated TS Clinics across the country that could potentially collaborate in this research. This collaborative research would also provide much needed information on the TS patient population to improve health care.
Over the years, TSGA has also worked with other national organizations such as Global Genes to better understand the larger healthcare environment and what might be impacting the future of TS and other rare diseases.
What other medical needs are a top priority for TSGA from a research perspective?
Another research-related need for the patient population is hearing loss, which is common in TS.
Most pediatric patients are able to fund their hearing aids through their insurance.
However, women with TS end up going without hearing aids because insurance doesn’t pay for hearing aids for adults and many women do not have the resources to afford hearing aids on their own.
With the assistance of a $10,000 Rare Impact Grant from Global Genes, TSGA has embarked on a new hearing aid pilot program with an existing program at the University of Kansas.
This project provides audiological exams and refurbished hearing aids at reduced cost.
TSGA looks forward to sharing the results of this project with Leaping Butterfly Ministry to see if there is a way to expand hearing services.
In addition, this pilot program could potentially benefit other rare disorder communities in which patients experience progressive hearing loss.
What can those in the Turner Syndrome Community do to support TSGA’s research efforts?
TSGA encourages girls and women in the TS community to seek opportunities to participate in research studies and to engage with physicians and researchers to ensure that projects are driven by the patient community.
In addition, it is up to the Turner syndrome community to fund research until we have large amounts of data and can engage the interest of larger funders.
By working together, TSGA, Leaping Butterfly Ministry, and our other local TS communities can have a lasting impact on the health of girls and women with TS.
What is TSGA focused on going forward?
We are focused on securing research funding so that multi-institutional research opportunities can be created.
When these research opportunities come to fruition, the volume of data collected from these studies will enable the medical community at large to offer better treatment, care and cures for those with TS.
We will continue to be the voice for a patient and parent perspective and seek collaboration between scientists, researchers and doctors to ensure that TS research and resources have meaningful outcomes.
More information about TSGA
Founded by parents of girls and young women with Turner syndrome, Turner Syndrome Global Alliance (TSGA) was incorporated in May 2014 and granted its 501c3 nonprofit status in September 2014. They are further classified as a 509(a)(2) Public Charity.
TSGA is based out of Overland Park, Kansas, and seeks to have a global impact through their work. This nonprofit aims to have a direct impact on the lives of girls, women, and families living with TS by working to include TS in the national conversation on genetic research.
Leaping Butterfly Ministry relies on donations to change lives, to create awareness of Turner syndrome, contribute funds for research, and support for those touched by TS. Click here to see how you can help.