I'm a Full-On Theater Kid and an RN - by Emilija Sipaviciute
Ok, get ready, because I’m basically going to share my entire life story! There’s so much I want to say, I don’t even know where to begin! As I’m sure many of you know, people with Turner syndrome (TS) can be extremely different; no two are alike. Thus, I can only attest to my personal experiences when talking about my story.
When thinking of all the characteristics and potential medical issues and everything that comes with TS, I like to think that my version of it is having a little bit of everything. By this, I mean that I pretty much have everything that comes with or can come with Turner syndrome, just on a minimal 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 TS at only about a month old. From what I’ve been told, my healthcare team noticed I had (and still do to some extent) puffy hands and feet. One thing led to another, and we had genetic testing done, and voila: the diagnosis of TS was confirmed! I’m not sure of the specific details of what led to my diagnosis but that’s the jist. I like to think that it was great that I was diagnosed so early, 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 little bit, life went on as normal. My family ended up immigrating to the United States when I was 3 years old and, we have been living here ever since. Of course, this means we had to find a new pediatrician for me.
One day, at a regular check up with my new pediatrician when I was around 4 years old, she told my mom that she heard a heart murmur and ended up referring 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 unicuspid instead of tricuspid, there ended up being some regurgitation of blood flow, leading to the murmur my pediatrician heard. Luckily, nothing we found was a medical emergency or anything like that, but we are at least now aware of this issue. These findings led to the need for much 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 MRIs to monitor the growth of the 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 just had to be a little 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 and theater type of person who couldn’t care less about sports, these restrictions worked in my favor.
In terms of medications, I take a blood pressure medication called Losartan to help prevent the aneurysm from growing. My aneurysm was closely monitored for a very long time, and of course, it would be growing slowly but surely. My family and I knew for a while that I would need to have surgery at some point to fix the aneurysm, it was only a question of when.
In the summer of 2019, MRI results showed that the dimensions of my aneurysm were at the point where surgery would be recommended to fix the issue. Again, I was very fortunate to never have been in a medically urgent state when it came to my heart issues. Once we knew it was time to start planning to have the surgery, we scheduled it for Dec. 11th, 2019. Being a year and a half into college at the time, there was definitely some planning that needed to happen. 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.
Luckily, 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 going back to school. I ended up having the aneurysm fixed and replaced with a synthetic tube/graft and 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. 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 very fortunate that my surgery went without a hitch, my recovery went 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 also want to note just exactly how lucky the timing of my surgery was. Not only was I already adult sizes, which means I wouldn’t need another surgery in the future, I had just the right amount of time between semesters of college for recovery. Not only that, but 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 couldn’t have been more perfect! It’s also just weird to think that it’s already been more than 2 years post-op for me! Time flies.
Now, switching over to the endocrine side of things. As I said before, I feel it was great I was able to be diagnosed so early. Because of this, I started on nightly growth hormone injections when I was 6 years old. Now at almost 22, I’m standing tall at a whopping 5ft 1in! I stopped the growth hormone at 16 since it was pretty clear at that point, I wasn't really going to grow anymore. At around 12, 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 got my first menstrual cycle. At least for me, this part of Turner’s is an absolute blessing since I only get my period every 3 months (jealous much?).
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. This makes sense, considering my ovaries are underdeveloped. I suppose I’m lucky that I’ve known this for a long time, so I’ve had a while to process the information and grieve. That doesn’t mean this part of Turner syndrome doesn't suck though. Still, 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, who knows? I plan to make an appointment with a gynecologist to perhaps get some specific testing done to see what my body is capable of when it comes to reproduction. While I may be completely wrong, I’ve heard of some women with TS who have been able to go through pregnancy and have children that way. 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 whether I can have children.
TS has also unfortunately granted me the gift of hearing loss. While it is a minor, I need to wear hearing aids and see and audiologist annually. Because of my hearing loss, I would sit in the front of the classroom at school as an accommodation. 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 really helped me get the extra support I needed. However, it wasn’t entirely cupcakes and rainbows, either. 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 a 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 when thinking and looking back at the different interactions I’ve had with my peers.
Most of the friends I had are still my best friends to this day. I wasn’t ever bullied per say, but the fact that I would be pulled out of class, along with a few others, to go to IEP sessions while everyone else did school “normally” definitely made you stand out. Of course, it didn't help that I was also just a weird and socially awkward kid when I look back. There were days when 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 not really caring about what others thought of me.
Cut to present day, where I am a graduate of the nursing program at MCPHS University and have just started my first nursing job! I know I’ve probably said the word “lucky” or one of its synonyms way too many times, but it truly is one of the best ways I can describe my specific case of TS. 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). 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 and such. It 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 musicals and choirs in high school, and I had 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’d love to start it up again. You guys have no idea how much I miss it. While I may not be very good at it, I also love to sing and am hoping to start taking some voice lessons as well. Disney is one of my biggest loves and I blame Ariel from The Little Mermaid for developing my whole personality. Like I also mentioned earlier, I recently graduated from the nursing program and 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 a lot of information intertwining, and 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 left out, but I think this is already long enough. I would be more than happy to answer any questions or anything 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’s Syndrome Society!