Community Voices: Why Advocacy Matters in Turner Syndrome

While there continues to be improvements in awareness, health care, research, and understanding of Turner syndrome, which I have seen firsthand since I was diagnosed around 2006-2007 at 10 years old, there is still a long way to go in improving health outcomes and quality of life. Many of the advances we have today exist because patients, families, researchers, healthcare providers, and advocates spoke up and worked together. This is why advocacy is so critical, and every person can play a role in moving the community forward.

Advocacy can include self-advocating in work, school, or healthcare environments. It can also include advocating to local, state, and federal legislators for policies to support the Turner syndrome community.

In this blog, we will share a few reasons why advocacy for TS remains important, including experiences shared directly from the TS community.

General Awareness

Turner syndrome is a rare condition (affecting 1 in 2,000 live female births), and for that reason it is so important to bring awareness. As one woman who signed our Turner Syndrome Foundation Petition for Patient Care said, “I had a miscarriage at 12 weeks and the NIPT results came back positive for Turner syndrome, and I didn’t know what that was.” In general, most people have never heard of TS until they have experienced it firsthand.

Awareness ensures that doctors, nurses, and anyone involved with the care of a girl or woman with Turner syndrome will be equipped to detect and manage health challenges early. It can

also help those in the education field, like teachers, support the educational needs of girls with Turner syndrome.

Greater awareness can also lead to earlier diagnosis. Many girls and women with Turner syndrome experience years of unexplained symptoms before finally receiving a diagnosis, delaying access to important screenings, treatments, and specialists that can improve long-term health. One individual with TS signed the petition and said, “Since I was diagnosed at 12, I have well understood the lack of awareness and visibility for TS butterflies like myself.”

Medical Care

Turner syndrome requires lifelong care that often involves multiple specialists, including endocrinology, cardiology, reproductive health, mental health providers, and more. Accessing knowledgeable care can be especially challenging for adults or those living far from specialized clinics.

I’ve had to travel out of state to get proper care for medical needs, and I also heard an endocrinologist tell a student intern that I may be the only case of Turner syndrome they would see in their career. One individual who signed the petition said, “We currently travel 8 hours to Seattle for a clinic once a year and still feel like I don’t get enough information.” These experiences can

be disheartening for anyone with TS and make getting the care they need inaccessible.

Additionally, in some cases, access for care at various stages of life can change, and adult care shouldn’t be ignored. Another petition signer said, “We are fortunate to have a great Turner syndrome clinic here in Denver, Colorado, but they only see pediatric patients and very young adults.” In my experience, many adult healthcare providers don’t have a full scope of understanding about how health issues connect with Turner syndrome, and it can be a lot to keep up with referrals to multiple different specialties.

Beyond access to knowledgeable providers, advocacy also influences healthcare policy, insurance coverage, and the affordability of recommended care. As stated by one of our petition signers, “My daughter has Turner syndrome and getting help with doctor appointments, insurance, and the care she needs has been so financially taxing on our family.” Another mom said, “The genetic testing that helped confirm her diagnosis was labeled ‘experimental’ and not covered by insurance, leaving our young family with more than $10,000 in out-of-pocket medical expenses. No family should have to choose between financial hardship and critical medical information.”

Research

Expanding research into the many different aspects of life with Turner syndrome is important for improving patient care. This can include researching why and how Turner syndrome actually happens, treatment protocol, diagnostic strategies, fertility options, and more.

As one mom who signed our petition said, “My daughter has a variant of Turner’s which involves a translocation of an x and chromosome 4. Apparently, there is not any research out there about this type of Turner’s.” Research can bring a deeper understanding to the varied experiences of those living with TS

and ensure there will be appropriate treatment options available.

Another mother said, “There’s so much unknown for girls with Turner syndrome, so it’s incredibly important that as much research is done as possible for them to have the best help and care possible.”

You Can Make a Difference

These are just some of the top examples of why advocacy matters as mentioned by friends, family members, or women themselves with Turners who signed the TSF petition.

You can help bring awareness to Turner Syndrome in small ways, like volunteering, dropping informational brochures off at doctors offices, schools, or government offices, if allowed.

Anyone passionate about making a difference for the Turner syndrome community is welcome to get more involved with TSF’s advocacy efforts through the Advocacy Working Group. No prior advocacy experience is required.

To get started:

Complete the Turner Syndrome Foundation Volunteer Application.
Select Legislative Advocacy when asked, “In which areas would you like to volunteer?”
Complete the online volunteer orientation.
Attend our monthly virtual working group meetings and participate in advocacy activities at a level that fits your schedule.

Whether you can make a phone call, write a letter, meet with a legislator, or help organize advocacy efforts in your state, your participation can help create meaningful change for individuals and families affected by Turner syndrome.