A Mom's Lived Experience with TS - by Molly Cardosi
This story is my lived experience of being a mother of a miracle – a “less than 2%” miracle. I have two daughters; both, as are all children, miracles. This story is about my second daughter, Emilia. This story does not speak for anyone else’s experience with TS; not my husband’s nor my eldest, Norah’s. Everyone experiences things differently, and I can only speak to my own.
This is how I have experienced this journey so far with a butterfly. My story started just over 7 years ago at my 20-week ultrasound. Exactly one week prior, I held tightly to my dad’s hand as he passed away. I was extra ready and needed to have a joyful experience of seeing my baby for the first time; something to celebrate. This, however, wasn’t the joyful experience I had at my 20-week ultrasound with my first daughter. Within seconds of our baby’s image appearing on the screen, something was identified as “abnormal”. The moment those words were spoken, the anticipation of learning the sex and all the other joyous discoveries was replaced by instant shock and fear, and all other senses shut down.
“Your daughter has a fluid filled sack on the back of her neck- a cystic hygroma.” Her long bones measure short. I had zero idea what that meant. After a whirlwind of blood tests, more ultrasounds, meeting with genetic counselors, and maternal fetal medicine; we spent a week waiting for test results. The diagnostics came back indicating Turner syndrome (TS). It felt like in the same breath I was told her diagnosis, it was quickly followed up with “by state law, you have one week to decide if you want to abort the pregnancy.”
For as far back as I have memory, I have been a worrier. My stress response of fight or flight is almost always on high alert. This near constant state of anticipation has my brain going through every possible scenario in my head that could go wrong in all situations so that I am prepared, “just in case.” In the scenario of learning my child was “abnormal” and the pregnancy was now “high risk”- I was caught off guard. I couldn’t process what I didn’t know, and I had never heard of Turner syndrome. My coping mechanism at the time was to get online and read everything I could possibly find about it, which was very little.
What I found was mostly scary, worse case scenarios. I learned that 2% of fetuses with TS do not make it to live birth (hence referring to her as my 2% miracle). I learned that those with TS were referred to as “butterflies”- that the butterfly symbol came to represent the metamorphosis from a difficult beginning to its emergence as a strong, beautiful being, a symbol of strength and perseverance. I learned that if my daughter defies odds and survives pregnancy, she will be short in stature and may require daily growth hormone shots. She may have a low hairline, webbed neck, low set ears. She may experience hearing loss. She may not reach puberty milestones without hormone treatments and will more than likely be unable to bear children. She may have significant heart defects, kidney, and autoimmune disorders. She may be verbally gifted, but struggle with social skills and non-verbal learning.
It was hard to process. There are a lot of possibilities as TS is a spectrum. All I knew for certain, was I needed to stay calm and pray that we would get to hold our daughter after a full-term pregnancy. For the last 17 weeks of pregnancy, I had level II ultrasounds twice per month to monitor fetal growth and activity, and a handful of fetal ECHOs to monitor her heart for defects that are common with TS. The last 8 weeks, I had weekly biophysical profiles to assess her wellbeing. I developed cholestasis of pregnancy at 33 weeks, so out of precaution I was induced at 37 weeks gestation.
Two days later Emilia arrived. The NICU team was in the delivery room ready to whisk her away if needed; fortunately, she was stable and did not require any special care. They cleaned her up and handed her over to me. She was eager to feed, and she seemed to know what to do. I tried nursing right away prior to the pediatrician entering the room for Emilia’s official examination. My husband and I took deep breaths for the first time in what seemed like ages - our little girl was perfect.
Within seconds of the pediatrician’s examination, she said “She has a cleft palate, you were aware of that, right?” My breath was knocked out of me again. “Um, no.” We learned quickly that Emilia would not be able to nurse. She would need specialized bottles and valves since she wouldn’t be able to suck and would require surgery to repair the cleft in her soft palate around 12 months of age. We spent nearly a week in the hospital learning how to feed Emilia, and each day brought with it a new discovery. 1. She has a sacral dimple: will need an ultrasound. 2. Heart defect confirmed: bicuspid aortic valve. 3. Horseshoe kidney: further testing will be needed to assess for vesicoureteral reflux. 4. Bloodwork confirms karyotype - Emilia has Monosomy X (or X0) – Classic TS, (vs Mosaic). I will never forget our last day in the hospital when the pediatrician came in to tell us about one last finding – 5. Ultrasound results show possible tethered spinal cord, will need to follow up with a full spine MRI. The pediatrician cried before we could even process what she said. She said something along the lines of, “I just want to walk into your room and tell you good news; that nothing is wrong, and you can just go home and enjoy your new baby.”
There was nothing I wanted more than to grab Emilia and run away from the hospital before someone else identified something “wrong” or “abnormal” about our baby girl. The first year of her life seemed as though there were a million appointments. My maternity leave included a lot of time in medical offices. My PTO maintained a zero balance. We had built and established a team of specialists that included an endocrinologist, cariologist, urologist, speech pathologist, ENT, neurosurgeon, early intervention specialists (PT/OT), ophthalmologist, and the glue holding it all together for us - our pediatrician.
By Emilia’s first birthday, she had over 3 sedated procedures under her belt- including MRI’s, cervical laminectomy, ear tubes, and cleft palate repair. She had several kidney ultrasounds, voiding cystourethrogram (VCUG), ECHO’s, and was put on medication for significant reflux. By the age of two, she was wearing glasses and handling a patching regime to strengthen one of her eyes.
Fast forward to the present, 2022. She is turning 7 this week and continues to see many of those same specialists on a bi-yearly to yearly basis. We “graduated” from urology and neurosurgery within the last couple years, as her kidney has remained stable and her spinal cord, although tight, does not appear to be tethered and in need of repair. We have added specialists such as a neuropsychologist, audiologist, and orthodontist to her team. ENT and audiology have been big players on our team over the last few years, as Emilia has had several sets of tubes and progressive hearing loss that got to the severe level in her right ear. A cholesteatoma (a cluster of abnormal cell growth) had grown in her middle ear space- eroding her stapes bone. Long story short- it took three surgeries (one every 6 months) to make sure the cholesteatoma was gone so the repair could take place. Third time was a charm! Just two months ago she had a successful tympanoplasty with total ossicular chain reconstruction. She now has a prosthesis (TORP) that has replaced her eroded middle ear bones. This was her 24th sedated procedure. It is hard to describe the feeling I get when I think about that fact.
On a positive note, we found out last week that her hearing is back to a near normal level! Goodbye hearing aid! Big win for our 1st grader! Outside of the facts of what Emilia has gone through over the past 7 years, there are a lot of non-discussed experiences and life changes that I have lived. After experiencing such significant stress levels at times after her birth, for example, I wound up in the ER with abnormal EKG and bloodwork. It was anxiety. I sought out professional counseling and started a regime of medications that I’m so thankful for to this day.
It took a long time to realize that to be strong, brave, and present in the moment for my family, I needed to make some changes and take care of myself. I get medication adjustments as needed. I no longer provide direct patient care as an Occupational Therapist, as I struggled taking time off work to get Emilia to all her appointments. The guilt of canceling patients and letting my coworkers down was too much. After loving my work as an OT for 12 years, I started to lose my passion and confidence in my care. I was scrutinized by HR for taking too many days of “unexpected” time off. Something had to give and it sure wasn’t going to be my daughter’s needs! I took on a new role in the therapy department where I no longer provide direct patient care but have a supportive role to the therapy team. When I need to take time off, I can. It is not directly affecting others so that weight of letting others down has been lifted, and I can be there for Emilia and focus on her care.
Over the years I have connected with people who are also part of the TS community. Thanks to social media, I am connected to people who celebrate milestones, vent about hardships, and provide encouragement and support to each other. This is where I finally see the happy, success stories of butterflies graduating from high school, college, even medical school! It is where I can relate with similar struggles and realize we aren’t alone. I learn from their stories, and by sharing mine, it just may be what someone needed to hear at the time. The TS community is small, but it is mighty. Our family has participated in the Chasing Butterflies Walk for the Turner Syndrome Society of the United States, raising money for more research, education, and to provide scholarships for people to attend the TSSUS National Turner Syndrome Conferences.
Because I share my story, I have had a friend reach out to me in confidence to share about the miscarriage of her butterfly. I have had friends of friends reach out asking me to connect with a co-worker, a relative, or other friend who just got the diagnosis of TS for their own daughter and are scared. I have met a friend of a friend who is a grown woman with TS, successful in her career who did not know about her diagnosis of TS until later in life.
It is a community that continues to grow for me and for that I am thankful. Every February I share my story through social media or share facts and other stories to help promote Turner Syndrome Awareness Month. I do this because it might be the first time someone has heard about TS. I do this because someone reading this might be struggling to figure out what is going on with their daughter who has similar needs but no diagnosis. Or maybe someone will recognize signs in themselves who may be struggling with infertility. I do this because maybe a teacher or health care provider will now have signs of Turner syndrome on their radar when they are encountering girls who are growing at a slow or stopped rate; have lymphedema in their limbs; a webbed neck; low set ears; isn’t hitting puberty as expected; or who is verbally gifted but struggles with non-verbal learning. I do this to advocate for people to ask questions and know about TS.
There are significant health risks associated with TS that need to be monitored for the rest of their lives, and some women are not aware of these risks. I want TS to be talked about, to be understood, as 1 in 2,000 girls has TS. I have never said to Emilia, “you have Turner syndrome.” She has heard us talk about Turner syndrome, and she has been a part of the butterfly walks. She knows the walks are celebrating her, that there are shirts made with her profile that say, “Emilia’s Entourage” (our team’s name) but does not connect dots or ask what it is about. I don’t feel like we are keeping a secret from her, I just don’t think she is able to process what it means yet. She knows she is different from her sister and friends because she has a lot of appointments and surgeries. She is ok with that, and soon she will learn about TS and be able to connect all the dots.
Do I look forward to that conversation? No. I will seek help with that conversation and will have no qualms about her talking with a therapist to help process the information. At this point in my story, I’m trying so hard not to change course and do what I always do when I talk about TS. I want to talk about how my first daughter, Norah is affected by having a little sister with a lot of medical needs and surgeries; and the stress and anxiety that holds her captive at times. I want to gush on and on about how incredible Emilia is. How her smile and giggle is contagious; how she is the most joy-filled human I have ever met. How she is the most empathetic person and feels deeply whatever someone near her is feeling. How she makes sure everyone is happy. How she dances and sings with her entire heart and soul on her sleeve.
But this story is to tell of my lived experience as a mother of a butterfly, my 2% miracle. I want to say that I wouldn’t change a thing about her, but that is not true, and it is fair to be honest, right? If I could give her back the missing chromosome so she did not have the medical challenges that she does, I would in a heartbeat. It is my truth that I can say that, while fully believing that Emilia is perfect in every way, despite the contradiction. I think any mom of a child with special needs would believe the same to be true. I hope the truth of my story can connect with another mother’s lived experience and know they are not alone; and for all the visible light and joy that radiates off our girls that the world sees, it may also be countered with a lot of heaviness and anxiety that feels selfish to share. I’m learning it is helpful to share that weight, as writing this story has been healing for me during one of my hardest weeks of the year. I haven’t always recognized that this week is hard; instead, I over plan and perseverate on upcoming events to avoid the deep ache that creeps in. To the outside world, I must just appear crabby, short tempered and distracted. This year I recognize what it is that I’m trying to compensate for. Somehow my body recalls the trauma of the week of her birth, and by writing about it I can take some control back. It is quite convenient for me that February, her birth month, is Turner Syndrome Awareness Month. It gives me my reason to share. It gives me an opportunity to reprocess the traumas and give them a new purpose. Maybe this year my story will make a connection for someone who needs it.