Dear Health Professionals,
When people ask me what I do for a living, my first answer is, “I breathe.” I often get a look of humor, contempt, curiosity, or disbelief.
Well, I am a healthcare professional, and I’m glad you put up with my opening line. Not many would, and I appreciate you reading past that. I promise I’ll make this interesting.
So let’s start this again. What do I do for a living? I am a Physical therapist. People have two kinds of relationships with physical therapists (PTs): they either love us or they hate us. People love PTs because we help them push through their limits. People hate PTs because we make them push through their limits. You see, “help” and “make” don’t go synonymously.
Discovering Turner syndrome - My Short Story
My story about Turner syndrome can be described as curiosity leading the cat to the fish. (Bad analogy! I tried.)
But Here We Go..
One fine day, it was pleasant outside, and I was in good spirits. It was 9:30 am, and I was waiting for my first evaluation of the day to walk in. A sweet 13-year-old girl entered, and my first thought was, “Such a beautiful, healthy girl, why do you need PT?” Of course, that conversation was in my head, but my face showed concern.
She was accompanied by her beautiful mom. I made her comfortable and asked her what brought her to PT—a question I always want to know, even when I have the referral in my hand. She looked at me and told me she was feeling weak and had difficulty walking. The prescription said “generalized weakness.” It was left up to the PT to decipher what caused the weakness. So, we dug in. After a few exchanges, she told me, “I have Turner syndrome.”
It was a moment where I went blank. Despite my usual chattiness, words just dried up. It felt like my over 15 years of practicing PT had come to a halt. I had to dig deep into my cortex to find answers. Why didn’t I remember studying about this? In all my years, this was the first moment where I was out of answers.
So what did I do? I didn’t want to tell the little girl, “My sweet, beautiful princess, I don’t know how to help you enough.” Why did I say enough? Because I know how to treat her weakness, but I am not equipped with the knowledge about Turner syndrome.
The Eureka Moment: Unveiling Turner Syndrome
This was the eureka moment of my life, and I don’t have many. This led my thirsty soul to open up Google and start the search. I was typing furiously, and all the tabs on my computer were open. When I say tabs—at least 15.
My research initially led me to identify 13 chromosome-related disorders. However, this was too broad for my purposes, so I refined my focus to sex chromosome disorders, narrowing it down to six.
Still wanting more answers, I further narrowed down my research to sex chromosome disorders involving only one sex chromosome. This brought me to a startling discovery: a disorder that is not only specific to females but also the only chromosomal syndrome characterized by having a single sex chromosome.
I spent half of my day going back and forth, reading about it because I felt I had failed myself. How in the world was I not aware of this disorder that only affects females? That’s when I came across the Turner Syndrome Foundation.
This was the beginning of my quest for knowledge and understanding of Turner syndrome, and here I am today.
Just like me, there are thousands of healthcare professionals out there who are not aware of Turner syndrome.
Awareness is not just necessary; it’s vital for our existence.
This is where we need to begin.
Sweta Christian is a seasoned physical therapist with over 15 years of experience in the healthcare field. She has extensively worked in NY and currently practices in New Jersey. Throughout her career, she has dedicated herself to treating patients in an outpatient setting, working with individuals ranging from 4 to 95 years old. Sweta approaches each day as a new opportunity to learn and grow in her profession.
As a professional member of the Turner Syndrome Foundation, Sweta helps individuals and spreads awareness about Turner syndrome. She actively encourages more people to join the foundation to increase its impact and bring more attention to this condition. Sweta’s dedication to her patients and her advocacy work showcases her commitment to making a positive difference in the lives of others. And you can too as a healthcare professional:
Start Creating Change Today:
References:
Shankar Kikkeri, N., & Nagalli, S. (2023, August 8). Turner Syndrome. In StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing. Retrieved June 20, 2024 https://www.ncbi.nlm.nih.gov/books/NBK554621/
Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. (2009, July 8). Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington, DC: Genetic Alliance. Retrieved June 20, 2024 https://www.ncbi.nlm.nih.gov/books/NBK115545/
Written by Sweta Christian, TSF Professional Member. Edited and Designed by Riya Ajmera, TSF Blog Coordinator.
© Turner Syndrome Foundation, 2024
“I carry the weight of not knowing. Though I heal bodies every day, when the words ‘Turner syndrome’ escaped me — I realized I was unarmed in someone’s battle. I watched her eyes trust me, and I couldn’t help but ache for more: more knowledge, more compassion, more courage. May I be everlearning, so no patient ever feels they’re alone in their questions