Living with Turner syndrome (TS) presents unique challenges and triumphs, not only for the girls and women diagnosed, but also for their families. Often, loved ones become key advocates, navigating the journey alongside them.
In this post, we share the stories of three mothers, Lucia, Victoria, and Kimberly, who are dedicated to understanding TS and helping their daughters thrive.
Luisa’s Story (3 years old, Guatemala):
I found out that my daughter had Turner syndrome in the 12th week of pregnancy after doctors found anomalies in my baby. During the 18th week of pregnancy, it was confirmed through a genetic test on my own blood that I was carrying a Turner’s baby. After the genetic testing confirmed the official diagnosis, I was then referred to a cardiologist to check the status of her heart where they found she had congenital heart diseases.
Despite all of this, because of the early diagnosis, I was able to mentally prepare myself. I did my research and was able to pull together a team of medical specialists that would help give Luisa the opportunity for a nice quality of life.
Luisa is now 3 years old and while she has taken a bit of time to reach certain milestones with things like walking and talking, my advice to other parents would be to not get overwhelmed. If you do your research to prepare yourself throughout the different stages of their life, it may take a little bit more time, but as I’ve been learning, they always make it!
Clara’s Story (4 years old, Indiana):
Before being diagnosed with Turner Syndrome, Clara was born with a CPAM (congenital pulmonary airway malformation) in her lung. During further assessment of the CPAM at 4 months old, doctors also found congenital heart defects. Despite these many signs the doctors still told me not to worry about genetic testing.
As Clara grew, I noticed additional differences and was encouraged to seek genetic testing by First Steps. Lo and behold, Clara was diagnosed with Mosaic Turner Syndrome at 2 years old.Â
While it was a challenge to initially get her tested for genetic disorders, (the doctors had believed that CPAM’s were not necessarily a genetic issue), she has progressed wonderfully since being diagnosed. It was a challenge to accept the fact that she most likely will not have the option to have biological children, and that there may be some future concerns with her heart.
However, despite these concerns and potential challenges down the road, she has luckily not needed heart surgery yet and while she is still very small, she is still within the growth curve. While I did decide to hold her back a year for preschool, she currently does wonderfully with her peers and has been making leaps and bounds in reading which include beginning to memorize whole story books! My advice to other parents would be to push for genetic testing, and be open with endocrinologists about any care concerns.Â
Aurora’s Story (2 years old, Missouri):
When she was around 3 months old, Aurora began having issues with vomiting and lack of weight gain. As a result, she was hospitalized twice during that period and underwent extensive testing with no answers. At 6 months she was diagnosed with failure to thrive and we still had no real answers.
After that, I decided to seek out a second opinion and transferred her care to another hospital. Within 2 days of our stay, we got the answer we were looking for. In addition to finally being officially diagnosed with Turner syndrome, the hospital also found a heart defect the first hospital missed.
Since her diagnosis, Aurora has been continuing to work through some health challenges including gastrointestinal, muscle strength, and thyroid issues. However, I am so proud of how strong she has remained throughout these challenges. She is making progress in her walking and communication (though still currently nonverbal) with the help of different types of therapy.
Her next steps now are talking, running, and socializing with others her age. My advice to parents would be this: do not be afraid to advocate for your child or to ask for second opinions if things don’t feel right.
These stories from Lucia, Victoria, and Kimberly offer just a glimpse into the resilience, love, and advocacy that define so many families navigating Turner Syndrome. While each journey is unique, the common thread is a fierce commitment to giving their daughters the best chance to thrive.
Whether you’re a parent, caregiver, or part of the TS community, know that you’re not alone. Sharing stories like these helps us raise awareness, build connection, and remind one another that even in the face of uncertainty, there is strength, hope, and progress.
If you are a parent to a TS girl, please join our Patient & Caregiver Registry so we can connect you with community, resources, and support. Together, we can continue to learn, support, and advocate for brighter futures.
Written by Brooke Caron, TSF Blog Writer, with story contributions from Turner Syndrome parents Lucia, Victoria, and Kimberly. Designed by Delvis Rodriguez, Data Management.
© Turner Syndrome Foundation, 2025
Thank you for sharing your unique perspective as a mother advocating for girls with Turner Syndrome. Your insights highlight the vital role of community support and education in fostering understanding. I remember attending a local awareness event where we showcased games designed to promote inclusivity and understanding among children. It sparked meaningful conversations about differences and strengths, just like you mentioned! Perhaps incorporating game-based learning into advocacy could be an engaging way to reach both kids and parents alike? For more ideas, I found some interesting resources at bloxgames that could inspire further initiatives. Thank you again for your heartfelt advocacy!