I Think of Myself as Lucky 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, girls with Turner syndrome (TS) can be extremely different; no 2 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 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 comes with or 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 Turner syndrome 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 (lymphedema of course!). One thing led to another. We had genetic testing done, and voila: diagnosis of TS 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 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 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, thus leading to the murmur my pediatrician heard. Luckily, nothing we found was of immediate medical urgency, but at least then we were aware of this issue. These findings 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 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 had to be careful with which amusement park rides I went on (ones that stopped or started suddenly should have been 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 would be on the blood pressure med Losartan to help prevent the aneurysm from growing more than it needed to. My aneurysm was closely monitored for a very long time; it grew slowly but surely. My family and I knew 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 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 cardiac history. Once we knew it was time to start planning the surgery, we scheduled it for December 11th, 2019. Being a year and a half into college at the time, we needed to coordinate schedules a bit. I would take my last final exam of the semester on Dec. 10th and show up at Brigham & 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 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 of any needed 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 perfectly timed my surgery was. Not only was I already adult size, 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 to mention that in just a few months after my surgery, the Shapiro building at Brigham and 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 scary! It’s also just really weird to think that it’s already been more than four 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 when I was six. Now, at almost 24, I’m 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, 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 instead of monthly (jealous much?).
One of the things that is bittersweet 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 take 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). 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. After having adjusted to this new regimen; I can’t complain! I didn't realize this would happen, but I ended up losing about 25 lbs without trying because of this regimen change which I won’t complain about, lol.
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 our ovaries are underdeveloped. I suppose it’s beneficial that I’ve known this for a long time, so I’ve had a while to process this information and grieve. That doesn’t mean this part of TS 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 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 a minor hearing loss, it is still a hearing loss, nonetheless. I 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 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 – things get 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 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 also 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 did have though 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 these IEP type extra help sessions/classes while everyone else does school “normally” definitely makes you 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 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 not really caring about what others thought of me.
Even to this day, I really struggle to make friends because of so many little insecurities that have been built up over time and make me almost scared to go up to people. Even though I am actively working on overcoming these insecurities, it's still really hard. 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 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 adjust her life for my surgery, etc. 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, 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 missed it during my college years. I also love to sing and have been taking some voice lessons as well. I’m trying to audition for various community theatre productions. I couldn’t be more excited to be in a show again; it’s been too long! Disney is one of my biggest loves and I blame Ariel from The Little Mermaid for developing my whole personality.
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 into 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’s Syndrome Society! Go Butterflies!