Research is one of the four pillars of TSF’s mission. TSF recognizes that research is a team effort and, as a result, supports initiatives by referring families to participate in studies across the U.S. Scientists and physicians must have a comprehensive understanding of Turner Syndrome in order to lower diagnosis age and improve treatment options.
TSF partners with universities and medical centers to increase participation of research studies and develop new opportunities for TS research. These partners include Stanford Center for Interdisciplinary Brain Science Research, Nemours Children’s Hospital, the National Institutes of Health, University of Chapel Hill, Rush University, Arcadia University, Coriell Laboratories/NGIMS, JS Genetics Laboratories, and more.
Outside of these collaborations, TSF has also commissioned its own research initiatives. The first, the TSF Patient and Caregiver Registry, launched in 2009 to collect data on many aspects of TS, such as access to care, areas of concern, and more. In 2018, that registry expanded to include the Turner Syndrome Research eXchange (TSRX). TSRX is a collaboration with Invitae that collects de-identified patient information to help the global research community learn more about TS. TSRX participants can also see how their responses compare with others’, providing an immediate benefit to those affected by TS.
In addition, TSF has assembled committees of experienced medical professionals to address complex issues. These include the Council on Infertility (COI), which published guidelines on infertility and family planning, and the Transition Task Force in collaboration with the Hormone Health Network focused on a smooth transition from pediatric to adult care. Currently, the Council on Cardiology (COC) is working to improve cardiac care in TS patients.
Awareness Month is a unique opportunity to call on legislators, the media, industry leaders, and more to pay attention and take action! But, it doesn’t mean we stop our efforts when February ends. In order to bring about real change, we need to keep working together all year long!
At TSF, we celebrate February and everyday awareness because we know your need for community and support doesn’t end on March 1. In fact, it’s even more important to continue taking action after February because of the momentum that’s been building throughout Awareness Month! Below we’re sharing a list of ways you can continue getting involved!
2. Become a monthly donor. Monthly donors sustain this cause by spreading a donation throughout the year.
3. Host a fundraiser. A casual day at work, seasonal party, or proceeds benefit – there are so many events you can plan to raise awareness! Learn more here.
4. Share your awareness story. How did you take action this Awareness Month? Share your story to inspire others!
5. Speak to your doctor about hosting a workshop. Create a community of support and knowledge when you bring a patient education workshop to your area! Talk to your doctor about the possibility, then pass their contact information along to us so we can follow up!
6. Join the TSRX. A great way to raise awareness is by participating in research. Join the TSF research registry, TSRX, and be part of the solution! Already registered? Sign on to update your responses now!
7. Ask your employer to sponsor TSF. We rely on generous donations to continue our life-changing programs. Do you know a local company, maybe your employer, who like to give back to this community and gain recognition? Let us know!
8. Post on social media (again!). Keep the online conversation going by reminding your friends and family why this cause is important to you!
9. Contact local media outlets. Invite them to share an article, post, or newsletter about TS to raise awareness. You may even be featured in the article!
10. Join the Star Sisters. The Star Sisters is an online community of positivity so anyone, anywhere can participate! Join to connect with women from various walks of life and create a network of support!
Have an idea of your own? Let us know! We’re here to be your partner in awareness! Thank you for all you do!
Emily is both a mother and postpartum nurse. She helps other parents cope with a Turner Syndrome diagnosis while raising a miracle of her own. With this unique perspective, Emily understands the importance of raising Turner Syndrome awareness.
On April 5th of 2016, my husband and I welcomed a beautiful little girl, Ryleigh Laine, into our family. Oh, and what a precious addition she has been! She has brought so much joy and laughter to our lives!
Matt and I learned of Ryleigh’s probable TS diagnosis only 12 weeks into the pregnancy. At 16 weeks, an amniocentesis was performed to give us more definitive results. Naturally, we were fearful for our unborn child and what this diagnosis meant for her wellbeing. The amniocentesis indeed confirmed… our sweet baby girl had TS.
We were given the option to terminate the pregnancy but that was not even a question for us. This child for which we hoped and prayed, that we were told our odds of conceiving were slim, that we loved even before she existed…no, she would be given every chance to live and be loved beyond words.
The pregnancy moved along from one week to the next. We were monitored closely by our general OB, High risk OB, and neonatologist. We were at high risk for an intrauterine fetal demise/still birth, which was terrifying to say the least. But from day to day, and week to week, Ryleigh was thriving and presenting just as any other normal fetus! Countless appointments and ultrasounds later, we were ready to deliver!
After an uncomplicated labor, on April 5th at 8:55 am, we delivered a beautiful baby girl! She was perfect in our eyes. Hospital staff performed an EKG and echocardiogram shortly after her birth. A couple minor concerns presented but no major heart defects were seen. God is good. We were so very relieved. Two days after delivering we were headed home with baby.
Ryleigh was seen by a geneticist who ordered chromosomal karyotyping which gave us the final, definitive confirmation of Mosaic Turner Syndrome. Since then, Ryleigh has been seen regularly by her pediatrician along with a team of consulting physicians including a geneticist, pediatric cardiologist, gastroenterologist, ophthalmologist, and an endocrinologist. Numerous diagnostic tests and blood draws later (which, by the way, she endured exceptionally well with a smile), Ryleigh is doing great! Thus far the biggest area of concern is with her endocrine system. This affects her hormone levels, which in turn, affect her growth. Close surveillance of her growth velocity was of great importance. Ryleigh began Human Growth Hormone (HGH) injections at 20 months of age and is responding very well.
I am also a postpartum nurse and have the honor of sharing our story with new parents facing similar circumstances. I’m blessed to have the opportunity to spread TS awareness not only as a parent but as a clinician.
Ryleigh Laine Anthony; perfectly imperfect, just like us all, and just as God intended. We learned we were pregnant just days before my Mom passed. We were able to share the news with her and see her face light up with so much joy! I will never forget the smile on her face. We fully believe that her Grammy had a hand in her being here and watches over her every single day. The symbol for TS happens to be a butterfly and my mom simply adored butterflies. Grammy and God hand picked her just for us. For this we are eternally gracious.
Ryleigh will surely have challenges ahead but with the support of family and friends, she will do great things! Of this, I am certain.
When it comes to volunteerism and philanthropy, your first thought might not be your employer, but you might want to think again. With a number of programs designed to give back to the local community, corporations have the resources to support the causes that are important to you!
An employee or workplace volunteer program is a chance to give back while encouraging your employer to do the same. Each company’s program is a little different, but most will donate to the charity of your choice for each hour you spend volunteering, including retirees. For example, your employer may offer a $100 donation for every 10 hours you volunteer with a nonprofit organization. Some companies will even reward groups of employees who organize for nonprofit projects.
There are many projects you can complete as a volunteer for TSF. Educate your community to raise awareness by hosting a talk with a PowerPoint presentation provided by TSF. Share flyers around your office. And more!
Many companies will take tips from their employees when choosing which charities to support. They want to give to the causes that are meaningful to their employees! There are a few ways that your employer may make a donation to TSF. Companies with matching gift programs will match your contribution dollar for dollar, doubling your impact! Additionally, most companies have a philanthropic department that offers monetary support to various charities. Encourage them to choose TSF!
Speak to your Human Resources department to find out which programs are available in your workplace, then complete the TSF Volunteer Application. Know of a business that will support TSF? Let us know!
Advocacy is the path to obtaining the support and services you need. As an advocacy organization, we understand that gaps exist in certain areas of Turner Syndrome care, legislation, and more. However, with your help, we can raise awareness to make Turner Syndrome a national priority.
All you have to do is complete a brief form and we’ll send it to the legislators representing your constituency. Sign today and make your voice heard. Signed in the past? Be sure to sign again in 2019 to reach newly sworn in legislators!
Awareness Month is an opportunity for our community to come together, to raise our voices, and make sure everyone affected by Turner Syndrome is receiving the care they deserve. By making more people aware of Turner Syndrome, there is hope to reduce diagnosis age, to educate doctors and teachers, to eliminate any stigma associated with Turner Syndrome, and so much more. Most people do not understand Turner Syndrome until they are personally affected, but together we can start a conversation and change the future of Turner Syndrome care. Your local legislators hold the power in your community to make that happen.
There are an estimated 80,000 women and girls living with Turner Syndrome in the U.S., 2 million worldwide. This number does not include parents, siblings, caregivers, and more who are also touched by this condition. Ultimately, there are more than 2 million reasons to sign the petition.
More to Explore:
Every eight hours a baby is born with Turner Syndrome and their lives are a miracle. Only 1-3% of Turner Syndrome babies survive until full-term. Those that do make it will require specialized medical care at every walk of life. The sooner a diagnosis is received, the sooner care can begin. Unfortunately for many, a diagnosis is delivered too late for vital medical interventions.
Turner Syndrome affects an estimated 1 in 2000 girls. Yet, to say they are the only ones affected would be forgetting the parents who lost their baby girl in utero, the caregivers who fight tirelessly for the best treatment options, the medical providers who struggle to improve research, and the activists who dedicate long hours to this cause. Over 80,000 girls and women in the U.S. today are living with Turner Syndrome, and an even greater number are affected.
These countless individuals rely on Turner Syndrome Foundation to be their voice and advocate. However, we cannot do it alone. Alone we are a river, but together our voices can be an ocean. We need YOU to join us in raising awareness everyday and especially in February.
There are many ways to support Awareness Month. With the drive to take action and the tenacity to reach higher, together we can make a substantial difference. The future of every Turner Syndrome girl and woman is in our hands.
Doctors know the importance of preventative medicine for overall health and wellness. When it comes to Turner Syndrome, early diagnosis and preventative treatments are especially important. With a late diagnosis, treatment options like growth hormone therapy are unavailable. You can help increase awareness this February by choosing to take action! We have some ideas to help you get started:
No matter how you get involved, choose to make a difference this Awareness Month! Help your colleagues understand the importance of early diagnosis and show your patients how much this cause means to you! Learn more about the Professional Initiatives at TSF.
Catrina was diagnosed with Turner Syndrome at 20 after a chance encounter with a cashier at her college bookstore. The cashier asked her if she had Turner Syndrome. Catrina’s mother explained, “They looked at her when she was little, but they said she didn’t have it. When she was older and had her period, they were doubly convinced.”
The cashier asked because her own daughter had TS. “You have the same stature and build as her. You have a lot of the physicality of a girl with Turner Syndrome, like a low hair line, shorter fingers. Did you have any ear problems when you were little?” Catrina was floored. She had 15 ear surgeries over her life.
Catrina would later be diagnosed by a blood test called a karyotype, in which chromosomes are examined under a microscope to find the exact location of an abnormality. It took her and her mom six to seven months before her doctor ordered the blood test. The results showed that she had full Turner Syndrome and no second X chromosome.
Learning that she had Turner Syndrome was a relief because she knew now where all of her medical problems and insecurities came from. If it hadn’t been for that meeting with the cashier, she still wouldn’t know she had it today.
Catrina explained in detail how this late diagnosis impacted her. “I would advise doctors to know that Turner Syndrome comes in many forms. Doctors did not know that a woman with Turners could have some symptoms and not others. They believed that all girls with the condition were exactly the same. It took six months for me to even convince my doctor to let me get the karyotype. The biggest thing for doctors to remember is that Turner Syndrome and other genetic disorders are not all or nothing. To have Turner Syndrome does not necessarily mean that you won’t have periods; it just means it’s more likely that you won’t. Doctors need to understand symptoms or diagnoses will fall through the cracks.”
Why does she feel early diagnosis of this condition is so important? “Early diagnosis is so important because it can save and improve lives. It can help doctors and patients better prepare for medical situations and can prevent some from arising. For Turner Syndrome specifically, it can help to understand things such as skeletal, ear, and heart defects. Knowing about issues can help to start preventative medicine early on when still treatable. Girls can start growth hormones to grow taller, but only if they are diagnosed as children.”
Increased awareness can lead to an early diagnosis, made possible when we all take action for Turner Syndrome Awareness Month. Why is Awareness Month so important? Catrina explains, “It’s so important because many people, including health care professionals, do not know about Turner Syndrome. Creating awareness will help to increase knowledge about this condition and therefore, more help for those affected by it. Early diagnosis can lead to prevention of other medical issues and catching medical issues when they are treatable. Also, Awareness Month can bring together those affected by Turner Syndrome to meet one another and share their stories. This helps boost morale for those who truly need it.”
Thinking of all the ways you can get involved this Awareness Month can be overwhelming! “Do I want to host an event? Should I schedule a meeting with my legislators?” No need to worry – we’ve got an easy solution for you!
Hosting a Casual or Jean Day Fundraiser is a simple way to raise awareness while supporting TSF. What is Casual Day? Your workplace will wear jeans or casual wear for one day during the month of February to show their support of TS awareness! With guidelines as simple as “wear your favorite jeans,” everyone can participate!
It’s that simple! Are you ready to start FUNdraising?! Here are some ideas of how to make an even greater impact!
Raise awareness while you shop when you support your fellow volunteers’ Awareness Month fundraisers! Pampered Chef, Swarovski Jewelry, custom cards, and more!