Turner Syndrome Foundation
The Turner Syndrome Foundation’s (TSF) My Story project produced several amazing testimonials in 2021. From motivational to inspirational to incredibly moving, these stories are important for the Turner Syndrome (TS) community to feel connected and supported. See snippets of 2021’s My Story posts below, and follow the links to read more. We hope you’ll be inspired to tell your story in 2022!
Olivia's Story: Advice for Patients and Parents
The biggest advice I have for girls with TS is to honor what makes you unique–both from the general population at school or work and from others within the TS community. Feel pride and contentment with your personal journey and the strength you have needed to make it this far. Use your experiences to inspire others and yourself. Let the challenges you face make you more resilient and empathetic, never bitter. And remember to thank everyone who helps you along the way! Gratitude is a powerful way to use a painful situation in a positive manner.
I think the main thing I want parents to realize is that TS is not a “sentence” to any one kind of future. It’s a diagnosis linked to dozens of other conditions and symptoms … Each person has their own unique genetic and medical picture, as well as the ability to exceed all expectations through self-determination. The course of any one girl’s life is shaped by many factors, most of which have nothing to do with a missing X chromosome! If a child grows up with diverse role models and a supportive family, TS will just be one facet of their life, which can never hold them back.
Read Olivia’s full story here.
Dori's Story: I've Never Let TS Slow Me Down
I was diagnosed with TS at four years old. I had an older brother named Jeremy (who is now deceased) who was five years older than me. Our parents had adopted both of us. When we were kids, my mom noticed that he was growing faster than I was and suspected that something was going on. That led to my genetic testing and diagnosis. The main thing I want others to know is that a diagnosis of TS doesn’t have to be scary.
I was in special education classes for math all through school, and I had to repeat first grade. My special education teachers in high school were especially helpful, and I could visit their room anytime I wanted or needed to. I didn’t get my driver’s license until I was 17, and I didn’t graduate until I was 19, but I didn’t let those things bother me. My first car had a wooden block on the gas pedal so I could reach it. I never let these things slow me down …
Read Dori’s full story here.
Eileen's Story: We Are Unstoppable
TS has given me the opportunity to connect with amazing support groups. And because of one of those support groups, I now have an amazing husband, with whom I just celebrated five years of marriage.There are certainly some challenges in dealing with a TS diagnosis, but what I have learned through all of these experiences is to do my best to look at the positive. Several years ago, I started Weight Watchers and ended up losing 50 pounds, which made me feel so much better, physically and mentally. While my weight is always a struggle, that achievement gave me a lot of confidence. I know many amazing women with TS who are teachers, doctors, etc. and are doing so much for their communities. Women with TS can do anything; we are unstoppable!
Read Eileen’s full story here.
Rebecca's Story: Giving a Voice to TS
I’d like to talk about something I have never shared publicly; I’ve always kept it secret. I was born with a chromosomal abnormality called TS, or Monosomy X. I don’t have all my sex chromosomes; I’m not XX or XY. My mother learned of my diagnosis when she was four and a half months pregnant with me.
Mothers, fathers, and families every year lose their babies to TS. It’s rare, and it’s real, and it is also very hard to talk about. The babies with TS who do survive to birth (only 1-2%) are on a spectrum, in terms of the severity of their physical characteristics and health issues.
We individuals with TS will go through a life-long journey of acceptance, patience, and above all, strength. That is, by far, the hardest thing I am currently working on. Just acknowledging my TS to others has been a major challenge. I love being part of a community of people sharing and listening to stories, raising awareness, and conducting outreach. We are giving a voice to TS. We need each other.
Read Rebecca’s full story here.
Rita's Story: I Feel So Lucky
I was diagnosed with TS when I was about 17 by a gynecologist at the university hospital. I hadn’t begun menstruating yet or had any breast development. Of course, I was always short, but I finally reached 4’11”. My parents and I were very glad to know what the problem was. I remember wearing a padded bra to look more like the other girls. I don’t know if growth hormone therapy (GHT) was in use then, but I was too old, anyway. They placed me on estrogen replacement therapy (ERT). Now things are very different, and there are so many more treatments available. I feel so lucky to have been diagnosed when I was, back in 1959. After all, I was born in 1942, only four years after Dr. Turner discovered the condition! …
I do have some minor medical issues, including horseshoe kidney (renal fusion), a lazy eye (amblyopia), and fairly significant hearing loss. But overall, I’m pretty healthy, for which I feel very lucky. I live in a small apartment by myself, and I don’t have too much I have to do now. A helper comes in two hours per week to assist with cooking, cleaning, etc. I adopted a cat, Bennie, and that’s fun. And this is really strange, but coincidences do happen: He’s a male, and I think he’s part calico, which is very rare, just like TS. He is a sweet kitty, and I really love him. Bennie was feral, and I’ve had him for about five months. I never had a son, but I did get my kitty boy.
Read Rita’s full story here.
Kym's Story: Never Stop Fighting
… I was diagnosed with TS at the age of 16. … My parents noticed some signs of TS as I was growing up, but my doctors never put it
together until 1988. I was always the shortest in my class and had a webbed neck and hearing problems. My mom was concerned about my growth and puberty, so off to the doctors we went. They did a DNA test, which confirmed TS. It was scary at first, being a teen and not understanding the condition. However, I learned quickly not to let it stop me. Meeting others with TS also helped me. I went to college and earned my Bachelors Degree and a Masters Degree in counseling.
… With TSF, I helped get a bill passed that makes February TS Awareness Month in New Jersey. Then-NJ Governor Christie signed Turner Syndrome Awareness Bill AJR6 … We must never stop fighting and advocating for those affected by TS.
I want every baby with TS to have the advantages I didn’t have due to my later diagnosis. I have a passion for awareness and hope to allow for much earlier detection and diagnosis of TS. We must never stop fighting for this.
Read Kym’s full story here.
Bill & Jennifer's Story: Moving from Pain to Purpose
On February 7, 2020, Jen was taking Tyler to work, and then she was going grocery shopping … About 10 minutes after they left, Tyler called me to tell me they had been in an accident after Jen had passed out at the wheel … Tyler actually had to steer the car off the road to avoid oncoming traffic. He did not sustain any injuries in the accident. When I arrived at the scene, Jen was in the ambulance, a little dazed but conscious.
At the hospital, they quickly ran a battery of tests and discovered the cause of the accident: Jen was suffering an aortic dissection, and they rushed her into emergency surgery. Sadly, she did not survive the surgery. The doctors recorded the official cause of death as hypertensive cardiovascular disease/aortic dissection. In the blink of an eye, our lives changed completely–I lost my beloved wife, and Tyler lost his mother. Jen was 53.
… Not a day goes by that I don’t think about Jen. Recovering from something like this is a slow, difficult process, but I can honestly say that both Tyler and I are doing well. When I was contacted about writing this, I really felt this was something I needed to be a part of. I think it is extremely important to raise awareness of how many women have TS and how crucially important it is to
properly manage this condition. It is also imperative that the medical community develop a deeper understanding of TS. I have become painfully aware that not enough medical professionals have done the research to enhance their knowledge about this medical condition.
Read Bill and Jennifer’s full story here.
Chelsea & Noa's Story: What I've Learned as an Angel Mommy
The first time I heard the term TS, my life changed. I was 10 weeks pregnant, anxiously awaiting the results of my non-invasive prenatal testing (NIPT). This would determine our baby’s gender and whether there were any other problems. I never imagined learning I was pregnant with a precious baby girl by way of a TS diagnosis. The original diagnosis was heartbreaking, since I knew Noa would experience many challenges throughout her life.
Nonetheless, I was prepared to support her at every turn.
It was becoming evident that Noa would have a heart defect if she survived. Sadly, she experienced heart failure from the build-up of fluid in her stomach and eventually her lungs. At five months pregnant, I lost her. Her tiny heart was working so hard to overcome the battle; she was truly a precious little warrior! There is no doubt that TS has rocked my world and changed my life in a pretty painful way. I have managed to glean some positives from the experience, though. For starters, becoming an angel mommy has opened my eyes and shifted my perspective to be able to see women and our situations in a completely new and different way.
Having spent a considerable amount of time researching TS, I now know a lot about a condition I once never knew existed. The more I educate myself, the more inspired I become to spread awareness about TS and also pregnancy in general. When most people think of pregnancy, they automatically think of happiness. That is great, but we must never forget about the women who struggle with pregnancy loss or fertility issues. I enjoy sharing information with others and helping people find new ways to support causes that we should care more about.
Read Chelsea and Noa’s full story here.
Wendy's Story: A Tribute to Wendy Coates
Wendy Coates, who lived and worked in Manhattan for over 30 years, was a vibrant performer, mentor, and advocate for those with TS and their families. Wendy lived her life to the fullest, even while battling a serious form of cancer. She was unfailingly positive and continued to enjoy many of her favorite things, including Broadway shows, movies, good friends, her family, and her TS community.
Wendy cherished her work with the TS community, such as teaching theater at the Boston International TS Summit, a one-week, residential program for girls aged 12 to 19. She also wrote an essay for Standing Tall with Turner Syndrome, sharing her journey with TS. As a TSF volunteer, she presented many workshops, mentored families, and advocated for increased TS awareness. Wendy may have been tiny, but she had a huge heart, and her enthusiasm was an inspiration to many.
“[Wendy] gave me so much hope for my daughter and for this mission. Her wit and huge personality was a healing and inspirational force for so many.”
Laura Fasciano, TSF Director and Founding President
Read Wendy’s full story here.
Angela's Story: TSF Celebrates Hispanic Heritage Month
My name is Angela, and I would like to share my story as a Hispanic/Latina woman with TS living in the U.S. I was born in Bogotá, Colombia. I moved to the U.S. in 1993 with my dad, his
wife (who has been like a second mom), and my brother when I was 12 …
Before my diagnosis, my parents noticed anomalies in my growth and development. We visited several doctors before they decided to do a karyotype study. I recall going to see the geneticist once during the process. When I was 10 1/2 years old, I was diagnosed with TS in Colombia. After receiving my karyotype results, my mom, who was a cardiologist, told me about my diagnosis. She lovingly explained that, as she called it, one of my “teeny cells”, or chromosomes, had “missed the bus,” to help me better understand it. Shortly after the diagnosis, I was referred to an endocrinologist. My first visit with them was unpleasant due to her lack of tact in explaining some things. My parents then decided to switch me to another doctor right away.
… I still sometimes struggle with the disappointment and sadness over being unable to give my husband a child. Currently, we’re not in a position financially and lifestyle-wise to adopt. We just hold on to faith that if it’s meant to happen, it will.
I believe that parents, caretakers, and doctors of individuals with TS should be better equipped on how and when to best approach the infertility conversation with them. Because it’s a sensitive topic, it should be done in an honest yet tactful way. The unique situation and personal background of each patient should also be taken into account.
Read Angela’s full story here.
Donna's Story: TSF Celebrates National Disability Employment Awareness Month
I was diagnosed with TS at about 10 years old. My stature was always short, and as an adult, I am 4’5” tall. Size was always a concern for my parents, and they looked into possible reasons when I was between four and five years old. It took a while to get a diagnosis. As a child, I had many ear infections, which caused a hearing loss in my left ear … We later found out that hearing problems are common in individuals with TS.
When I was in my late 40s, I was diagnosed with Facioscapulohumeral muscular dystrophy (FSHD). This condition is a form of muscular dystrophy that most commonly causes progressive weakness of the face, upper arms, and shoulder regions, though symptoms can also affect the legs. FSHD is caused by degeneration of muscle due to a missing chromosome in the person’s genes, much like TS. To learn more about FSHD, go to the FSH Society webpage.
It is important to note that TS and FSHD are not related. Prior to being diagnosed with FSHD, I had danced since I was 10 years old. I was a serious student of ballet, jazz and modern dance. I graduated from Mercyhurst University in Erie, Pennsylvania with a BA in dance … [Also,] I have toured with shows such as “Alvin and the Chipmunks and the Magic Camera,” in which I played Alvin, [and with several] modern dance companies …
One of the projects I am most proud of is our YouTube web series, “Donna on the Go,” which was created and executive produced by Peggy Lane. The show is a lighthearted view of the challenges that people with disabilities face. It conveys a
poignant message through laughter.
Read Donna’s full story here.
Kim & Raya's, Nicole's, and Kayla's Stories: What We're Thankful for
My name is Kim, and I’m from the Philippines. I’m a single mother raising my beautiful four-month-old daughter Azariah Elise (Baby Raya) on my own right now. She was diagnosed with TS when I gave birth. The father unfortunately passed away the same day I found out I was pregnant. It has been a challenging chapter. During the second trimester of my pregnancy, I found out that my baby was not healthy and there were a lot of complications, such as hydrops fetalis, oligohydramnios, cystic hygroma, etc.
I worried and prayed a lot for her safety, and when she was born, she had to stay in the NICU for three weeks. She’s now doing well, and I thank God for giving me a wonderful and strong baby. I know this is the beginning of our story and there will be lots of moments for us to smile and be brave, but what’s important is to have a positive outlook as we continue to face life.
I feel extremely thankful and grateful for my family, above all else. Particularly, I’m grateful to have my husband Richard in my life. I am also very thankful for my mom and grandma and how supportive they are of me. I am extremely grateful for my nephews, my brother and sister in law, and all the fun memories we get to make together. I am also very grateful to my mother and father-in-law.
I am thankful that I have a rewarding career that allows me not only to provide for myself and my family, but also do good and help my students reach their highest potential. I am thankful that I have a warm and safe place to live. [T]here are always positives to focus on, even though times can get tough. It is important how you face those challenges and tough times and move onward and upward …
I’m thankful for my story. Only 1 to 3% of fetuses with TS will survive to birth. So I’m thankful for the life I get to live. I have the opportunity to tell my story and use it to impact others. My own medical journey as a TS patient led me to a career in medicine, working as a physician assistant at a family practice. Though having TS has its challenges, it’s part of my story, and I wouldn’t change a thing!
Read Kim and Raya’s, Nicole’s, and Kayla’s full stories here.
A Heartfelt Thank You
TSF would like to extend a huge thank you to all of the TS butterflies, families, and caretakers who have contributed to our My Story blog series. Your unique stories are inspiring, touching, and so important to the TS community. We all have different experiences with TS, and we all need each other.
See below for information about how to share your story.
Share Your Story
Would you like to be featured in My Story blog post? Everybody in the TS community (patients, family, spouses, caregivers, educators, medical professionals) deserves to be heard, and for
those who wish to share their personal story, TSF provides you with this platform.
Help raise awareness and support for TS with your story. You can raise a voice to create a better understanding of the impact TS has on you and your family. When you share your story, you are educating others about the needs of this community and inspiring positive change.
“I didn’t realize my life’s story was interesting enough or would benefit someone else. I’m taken by the response.” ~My Story participant
Share your story here.
Compiled and edited by Susan Herman, TSF volunteer lead blog editor.
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