My Story: Grateful for My Early Diagnosis

The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers impacted by Turner Syndrome (TS). Their stories have an incredible ability to inspire others and make a positive impact on the TS community. This month, we share the story of Alyssa, a woman who was fortunate enough to be diagnosed shortly after birth and who had a great pediatrician. Early diagnosis is so important for those with TS!

Note: Everyone’s journey with TS is different. Please consult with your health care provider(s) for guidance regarding your health issues and appropriate treatments.

Meet Alyssa

Alyssa

A Great Pediatrician

I was extremely lucky to have a great pediatrician. I have been told by many doctors that most would have missed it. She came to visit 

me after I was born in the hospital and noticed my hands and feet were a little swollen. They had a slight purple color, and she ran tests, which confirmed that I had TS.

Growing Up with TS

Growing up, I felt a little different from my friends, as I had many doctors and didn’t get my period on my own. I also hated that I had to take the growth hormone shot which started around the age of 10. My poor mom! I was such a brat about taking the shots, which lasted for two to three years. I am thankful that I took them, though, since it allowed me to be a little taller. 

At 13, I started hormone replacement therapy–estrogen and progesterone pills. I switched over to regular birth control pills and found that much easier than remembering on which date to take which pill. The hardest part of TS for me is that I am unable to have kids. That is something that really bothers me. Going to baby showers is extremely rough for me. I am now fostering two boys, for which I am very grateful.

My Education

School was hard for me. I had to focus and study a lot more than my classmates. It took me longer to grasp the material. However, I got very good grades in college and am proud to say that I graduated with a degree in applied science in respiratory care. I am a respiratory therapist and really love my job. 

Alyssa at her new house with Milo & Addie
Alyssa & Addie

My Biggest Accomplishments

I would have to say my greatest accomplishments are my job and buying my own house. I just bought my house a couple months ago, and it still doesn’t feel real. In the future, I want to travel more and focus on family and friends.

Words of Advice

Do your research on physicians, especially endocrinologists. I have had some bad ones. It’s so important to have a great medical team. Be your own advocate! There are specific guidelines and testing that should be followed for TS. Some doctors I have been to did not know that.

Screening for TS

Prenatal

With prenatal testing, doctors can be alerted to TS via an ultrasound. Some of the abnormalities observed are lymphedema (swelling in the head and extremities), heart anomalies, kidney defects, etc. If abnormalities are noted, further blood testing (a karyotype) is done postnatally to properly diagnose TS. The “gold standard” is to draw blood after birth to identify any chromosomal changes that can confirm a TS diagnosis. 

Postnatal

Wikipedia

Newborns get screened for lots of things, but did you know that TS is not one of them? One of the key takeaways from Alyssa’s story

is that she had a great pediatrician who immediately noticed a few tell-tale signs, like her slightly swollen, purplish hands and feet. After running a few simple tests, she diagnosedAlyssa with TS. This early diagnosis enabled Alyssa’s doctors to begin necessary screenings and treatments.

Newborn screening tests are normally completed 24 to 48 hours after birth and again one to two weeks after. There are three separate parts to newborn screening: a heart test, a hearing test, and a blood test. More than 50% of babies with TS are diagnosed later in life, during adolescence or even adulthood. Unfortunately, this means that they miss out on a lot of treatments and medications that could help them, like growth hormone therapy.

Common Indications During Infancy

During infancy, the following symptoms might be noted:

  • lymphedema (swollen hands or feet);
  • abnormal facial features, including eyes and ears;
  • wide, webbed neck with extra skin fold;
  • small size/poor growth;
  • failure to thrive/ feeding issues; 
  • bone and joint issues (e.g., dislocated hip); and
  • heart, kidney, and bladder issues.

Both prenatal and postnatal testing are critical in diagnosing TS and ensuring that those with the condition receive proper medical screenings and treatment. Check out our recent blog post to learn more about the importance of newborn screening and early diagnosis.

Lymphedema

Share Your Story

TSF thanks Alyssa for sharing her story and reminding us of the importance of early diagnosis of TS.

Every individual and family affected by TS deserves to be heard, and for those who wish to share their personal story, we provide you with this platform. Simply complete this form on TSF’s website. You can share your first name and photos if you wish, or you can remain anonymous.

Each one of us can raise awareness by using our voices to create a better understanding of the impact TS has on our lives. When you share your story, you are enabling us to tell others about the needs of the TS community to seek positive change. We want to hear from you!

Sources

TSF Resources

Written by Janae Bunn, TSF volunteer blog writer. Edited and designed by Susan Herman, TSF Blog Coordinator. 

© Turner Syndrome Foundation, 2023


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