Our Community Understands and Will Fill You with More Hope Than Fear - by Molly Cardosi

“She has Turner syndrome - What is That?” Technically, it is a condition that results when one of the X chromosomes is missing or partially missing. However, when you are told your child or you yourself have Turner syndrome (TS), that might not be the "what" you meant when you asked that question. For me, I wanted to know “What does it look like, what does it feel like, what does this mean for her life, for our lives?”

So here are the “Whats” we have experienced so far with Turner syndrome, in 3 parts.

Part 1: The Pregnancy WHAT we heard: Your 20 week ultrasound shows a cystic hygroma in her neck. She likely has either Down syndrome, Turner syndrome, or Noonan syndrome. (Fast forward 2 weeks after blood test results are in): Your baby girl has Turner syndrome. We are sorry, but you will need to decide within the next week if you’d like to terminate the pregnancy.

WHAT my 2014 internet research showed me: Only 2% of pregnancies with Turner syndrome make it to live birth. 15% of confirmed pregnancies that end in miscarriage are babies with TS. Our baby will be at risk for developing fetal hydrops, with which mom too could develop Mirror syndrome.

If she is one of the few who survive to full term, she may have a webbed neck, low hairline, droopy eyelids, low set ears, short stature, kidney malformation, heart defects that could require surgery immediately after birth, certain learning disabilities, delayed puberty, infertility, and the list went on.

There were very few pictures online of babies, girls or women who have TS. Mostly graphics and drawings with arrows pointing to parts of the body that would/could be affected. I wasn’t getting any wiser, only more worried. I wasn’t finding success stories. I couldn’t find any comfort that even if she made it to live birth, that she would be “okay”.

WHAT we experienced: Due to our early gestational diagnosis, we were so very fortunate to live in the Twin Cities area and have access to a wealth of specialists. We were closely monitored by maternal-fetal medicine, monthly turned to weekly ultrasounds during the 3rd trimester. Cardiology was able to perform a fetal ECHO to discover a bicuspid aortic valve (normal = tricuspid). This abnormality was the lesser of concerns when comparing typical abnormalities with TS. We counted this as a win, as she was not going to need surgery immediately after birth!

I ended up developing cholestasis of pregnancy in the 3rd trimester (we do not believe this was related at all to TS), so to avoid further risk to the baby, I took medication, and we were scheduled for inducement at 37 weeks. I knew we were both in good hands, but was still scared as hell, waiting for the “what next?!”

WHAT I would tell myself then, after what I know now: Your baby girl has made it this far and that alone is a miracle. She is going to continue to defy odds. There is a community out there, thanks to social media, that understands the fears of the unknown, who can’t wait to share their journey and their daughter’s journey with you. This will fill you with more hope than fear. Be a part of that community who shares your unique experiences, your fears, your joys, your struggles, and your wins. It might be exactly what someone needs to hear.

Part 2: Birth and the First Year - WHAT we heard:  She’s here! We did it. As she is having her initial exam by the pediatrician we hear: Were you aware she has a cleft palate? (No.) An occupational therapist will be up to your room as soon as possible to teach you how to feed her since she will not be able to breastfeed or suck from a bottle. She has a sacral dimple; we will need to do further imaging on that. She has a horseshoe kidney; urology will keep a close eye on that while she grows. She will qualify for Birth-3-year-old early intervention through your school district; the referral has already been sent. My head was spinning. After several days of learning how to help her thrive, we got to take her home.

WHAT we experienced: Throughout her first year, we spent countless hours in waiting rooms; cardiology, urology, endocrinology, ENT, and neuro-surgery specialty offices. At 8 months of age, she had a C1 laminectomy (spinal surgery). At 12 months of age, she had her cleft palate repaired. Once per month we had the Birth-3 team over, which included a special education teacher, physical therapist, occupational therapist, and speech language pathologist. This continued monthly until she turned 3.

I personally started seeing a psychologist weekly who helped me reprocess trauma and deal with anxiety.

WHAT I would tell myself then, after what I know now: This first year is a whirlwind and it's okay to lean on the support of friends and family. It is okay to not be okay. Working through trauma and getting a handle on anxiety is non-negotiable; don’t question it. When she has her medical procedures and surgeries, she will blow everyone away with how smiley and resilient she is. Try to create more devoted time to spend one on one with her big sister. This is a lot for her too, and it is hard to see how it has an effect on her when living through these moments. Looking back, I can see a 3 year old little girl worried about her new baby sister, wondering why she has to tag along to so many doctor appointments; why does she have to have surgery on her neck and in her mouth. Is that going to happen to me too? There was a lot of focus on her baby sister, and of course she could sense her mom’s worry.

Part 3: Then Until Now -  WHAT we heard: She needs to start on an eye patch protocol for the next couple years to strengthen her eye (age 2). She needs glasses (age 3). She needs PE tubes (ear tubes)- she will have multiple sets of tubes. Her spinal cord may be tethered (found after birth). Her spinal cord is not tethered (after 3-4 MRI’s around age 5). Her bicuspid aortic valve is causing moderate dilation of her ascending aorta. She requires daily heart medication. She has hearing loss on her right side, and surgery will be required to try and lift the eardrum (tympanoplasty). Surgery attempt #1- unsuccessful (age 6) due to a cholesteatoma (benign growth) in her middle ear space. This has been removed, but we will need to try again in 6 months to make sure the cholesteatoma has not grown back. Surgery attempt #2 - unsuccessful. Cholesteatoma has grown back and has eroded the middle ear bones. This has been removed and we will try again in 6 months, this time she will also require a prosthetic bone chain reconstruction as well. Surgery attempt #3- SUCCESS! Tympanoplasty with total ossicular chain prosthetic (TORP) reconstruction (age 7). Her hearing is back in a normal range 6 months post-op. Another 6 months pass; she requires a hearing aid. Time for orthodontics! First round of palate expander and braces (age 8).

WHAT we have been experiencing: Despite all these years of surgeries, appointments, blood draws, MRI’s, studies, and neuro-psych testing, she keeps a smile on her face. She radiates joy and it is infectious. Does this mean she is worry-free? No. She has repetitive thoughts and intense worries at times that can keep her up at night. This part is really hard, but when it comes time for her appointments, she looks around the room at the physicians, surgeons, nurses, and medical assistants and genuinely asks them how their day is going. Not once has she left an appointment without saying “thank you” even if she is in tears after a blood draw.

She is now in 3rd grade, and she loves school! She excels at reading and absorbing information. She has not needed any educational interventions thus far. She knows the name of every employee in the school and says hi to them by name when passing them in the hall, even if she sees them out in the community. She goes out of her way to make sure others are having a good day. She can read a room. If a laugh is needed, she pulls out a random one-liner that you can’t help but laugh at. She can hold a conversation with an adult better than the average adult! She is thoughtful. She loves dance, swimming, singing, and performing in plays.

There have been only a handful of situations over the years where perhaps her unique anatomic differences have posed a barrier to success. As she is getting older, she has begun to ask, “Is having Turner syndrome bad?” So here we are, doing the best we can to educate her and others by saying “Turner syndrome is just something about you. Like if someone has freckles, or has a different skin color than you, or is tall or short; it is just something about them. It is not a scale of good or bad. It does not define who they are, it is just something about them. Each of us has a million “somethings”.” She thinks about this and responds; “So like, something about dad is that he is bald (insert laugh), but that is not the only thing about him. Something about me is that I have Turner syndrome, but that is not all about me, it is just something.” Yes!

So, this is where we are now. We are making progress and learning every day. In a few years’ time, I will reflect on this current stage and have “words of insight” from what I will have experienced in that time. I’d love to know now if there are things I could worry less about or be more vigilant about something I may be missing, but that is not how life works. We will continue to celebrate the wins, work through the tough times, and be kind to ourselves and one another. We will laugh every day. We will continue to talk openly about Turner syndrome from our honest experiences in the hope that whoever is listening or reading will hear or read what they need to make a decision, to find they are not alone, to realize this journey they never expected to be on will be full of more intense joy than grief or make a connection to someone who needs support.

We hope there will be more people who share what Turner syndrome means for them, so there are less people asking, “What is that; I’ve never heard of it before.”