I'm a Full-On Theater Kid! by Emilija Sipaviciute

Ok, get ready because I’m basically gonna share my entire life story (and bear with me because this is a long one, LOL!). There’s so much I want to say; I don’t even know where to begin! As I’m sure many of you know, girls with Turners can be extremely different; no 2 are alike. Thus, I can only attest to my personal experience as just one of the many people with said diagnosis. When thinking of all the characteristics and potential medical issues that can come with Turner syndrome (TS), I like to think that my case is like “having a little bit of everything”. By this, I mean that I pretty much have everything that can come with TS, just on a more minute scale. I also like to think that I am and have been extremely lucky and blessed from a medical standpoint and the wonderful care I’ve been able to receive.

I think this will make more sense as you read along. I was born in Kaunas, Lithuania on March 6th, 2000. I was fortunate to have been diagnosed with Turners at only about a month old. From what I’ve been told, my healthcare team noticed that I had (and still do to some extent) puffy hands and feet (lymphedema of course!). One thing led to another. We had genetic testing done, and voila: diagnosis of Turner syndrome confirmed! I’m not sure of the specific details of what led to my diagnosis, but that’s the jist of it from what I understand and have been told. I was very fortunate to get diagnosed so early and especially before the start of puberty since that allowed my healthcare team to plan for any early interventions that would lead to the best quality of life possible.

For a few years, life went on as normal and my family ended up immigrating to the United States when I was three years old. We have been living here ever since. Of course, this means we had to find a new pediatrician for me. When I was around four years old at a regular check up with my new pediatrician, my doctor discovered a heart murmur and referred us to a cardiologist to get a more thorough examination. Upon further investigation, it was found that I had an aneurysm on the entirety of my ascending aorta and a unicuspid aortic valve. Because my aortic valve was unicuspidal instead of tricuspid, there ended up being some regurgitation of blood flow which caused the murmur my pediatrician heard.

Luckily, nothing we found was of immediate medical urgency, but at least now we are aware of this issue. These findings of course led to the need for more consistent and thorough cardiac monitoring. Next thing I know, I am now a patient of the wonderful cardiac team at Boston Children’s Hospital! Until I was around 15, I would get annual echocardiograms and would afterwards switch to annual or biannual MRI’s to monitor the growth of my aneurysm. Luckily, having an aneurysm didn't really affect my life that much. The only thing I wasn’t really allowed to do was participate in hard contact sports like American football or hockey and I wasn’t allowed to do any heavy weightlifting or bodybuilding. I also had to be careful with which amusement park rides I went on (ones that stopped or started suddenly had to be avoided). Me being much more of a dance and performance arts/theater person who couldn’t care less about sports, these restrictions worked in my favor. In terms of medications, I was put on Losartan to help control my blood pressure and prevent the aneurysm from growing more than it needs to. My aneurysm was closely monitored for a very long time, and it grew slowly but surely. My family and I knew that I would definitely need to have surgery at some point to fix the aneurysm, it was only a question of when.

In the summer of 2019, my MRI results showed that the dimensions of my aneurysm were at the point where surgery was recommended to fix the issue. Again, I was very fortunate to never have been in a medically urgent state when it came to my cardiac history. Once we knew it was time to start planning the surgery, we scheduled it for Dec. 11th, 2019. Being a year and a half into college at the time, we definitely needed to coordinate schedules a bit. I would take my last final exam of the semester on Dec. 10th and show up at Brigham and Women’s Hospital in Boston early the next day to have the procedure. Fortunately, breaks between semesters at Massachusetts College of Pharmacy and Health Sciences (MCPHS University) are a month long and would be just the amount of time I needed for recovery before being able to go back to school. I ended up having the aneurysm fixed and replaced with a synthetic tube/graft and also had my valve replaced with a mechanical valve. While it is great that I no longer have regurgitation of blood flow, having a mechanical valve means I need to be on a blood thinner for the rest of my life because of the high risk for blood clots. I am specifically taking Warfarin, which involves periodically checking the thickness of my blood at home with a machine similar to a glucometer diabetics use that tells you your INR. I then submit my INR results to the CAMP team at Boston Children’s Hospital through a handy-dandy app where they then tell me any changes to my dosage and when to test again.

I was fortunate that my surgery went off without a hitch, my recovery went very smoothly, and that I was out of the hospital in six days. I was feeling like myself again at only 2 weeks post-op! I suppose being young has its perks. I would also like to note exactly how perfectly timed my surgery was. Not only was I already adult size, which meant I wouldn’t need another surgery in the future, I had just the right amount of time between semesters of college for recovery. Not to mention that just a few months after my surgery, the Shapiro building at Brigham & Women’s where I was recovering would be converted into a COVID unit. Basically, the timing of everything was so beyond perfect, it’s scary! It’s also just really weird to think that it’s already been more than five years post-op for me! Time flies.

Now, switching over to the endocrine side of things. As I said before, it was great I was able to be diagnosed so early. Because of this, my team and I would be able to start me on nightly growth hormone injections starting from when I was six (thank goodness!). Thanks to modern medicine, I’m 25 years old standing tall at a whopping 5ft 1in! I stopped the growth hormone at 16 since it was clear at that point I wasn't really going to grow anymore. At around 12 years old, I also started estrogen hormone replacement therapy to assist my body with going through puberty. At 17, I switched to a different form of estrogen (essentially birth control pills) since I finally went through my first menstrual cycle.

One of the things that is bitter sweet about TS is having to switch from pediatric to adult providers, especially since you build such a rapport with them over the 20+ years they've been taking care of you. Dr. Levistsky, I miss you! Since the summer of 2023, I now have a new endocrinologist, and we have once again adjusted my hormone regimen accordingly. I have stopped taking birth control and now take estrogen and progesterone. Incidentally, going on this new regimen has pretty much stopped my menstrual cycle entirely (not to be confused with going into early menopause). At least for me, this part of TS is an absolute blessing since I don’t really have to worry about my period anymore (jealous much?). I’ll admit, I was a bit hesitant about this at first because even though menstrual cycles are annoying as heck, having them at all gave me a sense of normalcy, which was kind of nice considering the amount of “not normal” things I had going on medically and socially. However, after having adjusted to this new regimen; I definitely can't complain! I also didn't realize this would happen, but I ended up incidentally losing about 25 lbs. without trying because of this regimen change which I am definitely not upset about.

In terms of gynecology related topics, I’m truly not sure how I feel. As long as I can remember, I have been told that having biological children of my own through pregnancy was impossible (something extremely common with TS). This makes sense, considering our ovaries are underdeveloped. I suppose it’s beneficial that I’ve known this for such a long time, giving me adequate time to process and grieve. That doesn’t mean this part of TS doesn't suck though. Regardless, I can’t wait for the day I become a mother, whether that be through adoption or whatever miracle medical technology that may be invented in a few years! Given the extent and frequency of how the world of medicine changes, who knows? I plan to make an appointment with a gynecologist to perhaps get some testing done to see what my body is specifically capable of when it comes to reproduction. If the answer is still no after doing this testing, at least this way I can get some closure since I’ve never had a specific answer to this question of whether I can have children.

Turner syndrome has also unfortunately granted me the gift of hearing loss. While it is not a major hearing loss, it is still a hearing loss nonetheless. I need to wear hearing aids and go to an audiologist annually. Because of my hearing loss, I would usually be seated in the front of the classroom at school as an accommodation. I'll admit, up until a couple years ago, for whatever reason, I was never really compliant with wearing hearing aids. However, now that I’ve matured a bit more and got new hearing aids that properly fit my ears, it has been truly life changing!

Going through school and everything - that gets a little bit more complicated. I was on an IEP program until the end of 8th grade. Don’t get me wrong, it was great and it really helped me get the extra support I needed. However, it wasn’t entirely cupcakes and rainbows. I don’t say these things to discourage or put negative thoughts into other people’s heads, but it really is just the reality of the situation. I unfortunately did not have the best luck when it came to my peers. Specifically, I didn’t have a lot of friends and I was kind of ignored by many of the others in my grade, as well as the student body in general. There was also this sort of sense I had a lot of the time that I was constantly being judged. Not that I want to compare these two things, but it felt to me almost like I was being put in the same group as the special-ed students looking back at the different interactions I’ve had with my peers. Most of the friends I did have though are still my best friends to this day. I wasn’t ever bullied per se, but the fact that I would be pulled out of class along with a few others to go to these IEP type extra help sessions/classes while everyone else does school “normally” definitely made me stand out. Of course, it didn't help that I was also just a really weird and socially awkward kid when I look back.

There were definitely days where I would feel really sad about my social situation at school, but for the most part, I kind of just ignored it and went on just focusing on school itself and trying not to care what others thought of me. Even to this day, I really struggle to make friends because of so many small insecurities that have been built up over time. It makes me almost scared to go up to talk to people. Even though I am actively working on overcoming these insecurities, it's still really hard. To inspire a bit of hope though, sometimes it really can be just finding the right group of people in your life.

Ever since I became involved with the Rhode Island Stage Ensemble (a community theatre company in Rhode Island) in the summer of 2024, I have made amazing friends, built connections, and found a confidence in me I never knew I was capable of having. I’m now the social media coordinator for the theater!

I know I’ve probably said the word “lucky” or one of its synonyms way too many times, but it truly is the best way I can describe my specific case of Turner syndrome. I’ve never been shy or ashamed of my diagnosis, and I am a completely open book when it comes to it (sometimes probably a little too much lol). I’m also just extremely thankful to have been born into the most supportive and loving family I could possibly have when it comes to all my health stuff. Special shout out to my mom who has been with me through everything, from doctor's appointments to having to make adjustments in her life for my surgery, etc. She really makes it seem like we are partners going through it together.

But, enough of the medical stuff. Let me give you a glimpse of who I am as a person. As I mentioned before, I am a full-on theatre kid. I absolutely love performing and I was always in the musicals and choirs in high school, as well as having taken dance classes since I was 6. I sadly had to stop dance classes once I started college but now that I’ve graduated, I’m so glad I’ve been able to start it up again. I definitely missed it during my college years. I also love to sing and have been taking some voice lessons as well. I’m constantly trying to audition for various community theatre productions and I am so honored to say I will have just completed my 3rd as of February 2025, having done Beauty & The Beast, Legally Blonde, and High School Musical. It definitely wasn't easy though. It took me a full year to get cast in my first production, so this is your incentive to not give up! Disney is one of my biggest loves and I blame Ariel from The Little Mermaid for developing my whole personality.

I also have gotten back into my hobby of figure skating and am currently taking lessons, and am a member on the adult team for The Skating Club of Boston’s Theatre on Ice teams, Imagica of Boston! I also could not have been more honored to have been a mentor for the Boston International Turners Syndrome Summit (BITSS) during the summer of 2024. It was an experience I will never forget and I am already counting down the days till next summer!

Like I mentioned earlier, I graduated from the nursing program at MCPHS University and am currently working at Brigham & Women’s Faulkner Hospital! However, I do hope to one day work as a nurse at Boston Children’s Hospital. With all the wonderful healthcare I’ve received throughout my life, not only would it be the most epic full circle moment ever, but I couldn’t think of a better way to give back to the community that has basically kept me alive to this day!

I apologize if my thoughts seemed all over the place when writing this, but there was so much info that was intertwining, I tried my best to separate it in sections. So there you have it, that’s my TS story! I feel like there’s a million things I probably left out but I think this is already long enough. I would be more than happy to answer any questions anyone may have. Thank you all so much for taking the time to read my story. I truly am honored to be a part of this amazing Turner Syndrome Society! Go Butterflies!