February is the shortest month of the year. It only has 28 days (29 if it's a Leap Year), and the sun isn't even out for half of the day. So it's fitting that it has also been designated as Turner Syndrome Awareness Month.
Turner Syndrome is a chromosomal disorder that affects one in every 2,000 living people who were assigned female at birth due to a partially or completely missing X chromosome. It is not genetically inherited, as one of the many symptoms that can come along with it is infertility due to nonfunctioning or even missing ovaries. However, those with TS who do have part of the chromosome that start their period on their own (without the help of HRT to induce them) have a chance at conceiving, though it is not recommended as heart conditions are also common amongst folks with TS. IVF is a possibility as well, though it is also not recommended. Other symptoms include short stature that requires growth hormone treatment, hearing issues or even loss, puffy hands and feet at birth, many moles, social difficulties, learning difficulties (math especially), delayed puberty, and scoliosis, among many others.
There are two types of TS: classic (45 chromosomes) and mosaic (where part of the 46th chromosome is present).
It's also very important to point out that while TS is only found in AFAB people, not everyone who has Turner Syndrome identifies as a woman, and they have just as much right to space in the TS community (and a sense of safety in said community) as cis women (people assigned female at birth who identify as female) with TS.
I was diagnosed with Turner Syndrome in utero via amniocentesis (where they take embryonic fluid and fetal cells are grown in a culture medium, then looked at under a microscope). It started when my mom went in for an ultrasound and the tech found something out of sorts. Originally, they had thought my skull hadn't fully formed yet in the back and were concerned that it was Down Syndrome or that my brain could possibly hemorrhage. My mom got a second ultrasound to check at Norton Hospital in Louisville. It was determined that it was a sac of fluid on the back of my neck known as cystic hygroma. She then went to a geneticist who said that it could either be TS or Down Syndrome. That was when the amniocentesis was ordered and I was officially diagnosed with Turner Syndrome that day.
My mom and aunt did a great deal of research online to find out as much accurate information on TS as they could, as a lot of the information in books was inaccurate. They found the Turner Syndrome Society of the United States website, which today is still the most trusted source of information on the subject.
I arrived September 25, 1994 at 6:01 pm Eastern Standard Time at Norton Hospital in Louisville, Kentucky and was rushed over to Kosair at two days old for my first heart surgery. At three weeks, my diaphragm was fixed due to paralysis on the left side. At six weeks, I had my second heart surgery. The last one was when I was 3 and a half, and aside from being diagnosed with hyperthyroidism that went to hypothyroidism, I've had nothing serious TS-related since.
I won't deny that having Turner Syndrome can be highly irritating. I have to take a lot of medicine, I have a small army of doctors that I go to, I occasionally get stuck sitting behind very tall people and can't see, I have a tough time with numbers and visualizing things, and can't read physical social cues to save my life. At the same time, I'm also aware I wouldn't be who I am if my DNA wasn't how it is. I also wouldn't have the amazing friends I've made through the annual conferences.
For parents who have just had their kid diagnosed; tell them immediately, and give them full disclosure on what having TS entails. My mom was honest with me about my TS from the beginning, and I doubt that the trust I have in her would be there if she hadn't. And for the love of God, please put your kid on growth hormone as soon as it's allowed. Give them the chance to be as tall as they can be. Understand that routine can be important for some of us, and that a lot of us understand words better than actions when it comes to socializing with others. Even then, it's best to be straightforward when talking. My father is pretty sarcastic and I couldn't figure out when he was being so until I was 18.
Most of all, remember that this diagnosis isn't about you. It's about your child and what they need to live a healthy, happy, productive life. Make sure that your kid determines who knows that they have TS and when they find out. It's not something to be ashamed of, but it's still important for the person with TS to have control over how and when the information about it is disclosed.
Be patient. Be supportive. Be there.
