At 17 weeks pregnant, I received the news we would be adding a baby girl to our spunky family of three. Not only did we receive this exciting news, but we also learned our daughter had a rare chromosomal syndrome, Turner Syndrome, which in most cases there is a complete or partial absence of the second female X chromosome. Incurable, Turners is quite manageable with the correct medical team in place… Although each and every girl is different, with such diagnosis these symptoms can be frequently seen: short stature (under 5 foot), infertility, webbed neck, low hairline, puffy hands and feet, ear infections/mild hearing loss, broad chest, heart defects, horseshoe-shaped kidney, narrow/high palate and more. Turner Syndrome effects one in 2,000 girls.
The month of February is Turner Syndrome Awareness month. It’s one month out of the year I feel many women, parents, friends and family members can link their hands and spread word about this rare syndrome that has the most alarming statistics when it comes to survival, thus being 99% of Turner Syndrome related pregnancies do not reach full term. Ninety-Nine Percent! This February I find myself and a few other local moms who will not only celebrate the life of our girls, but we will also speak out, educate and look forward to more advances for those who have beat the odds and honoring those who lost.
Names: Leah (that’s me) and Elvie, 5 months
When and How Diagnosed: Upon receiving an abnormal test result at my 16 week appointment, we were referred to the Maternal Fetal Clinic to get a Level II ultrasound. During the ultrasound, we learned the sex of our baby along with the information that her long bones (femur & humorous) were measuring short. We decided if any markers were shown, we would get an amniocentesis to understand exactly what we were dealing with. Our second set of results from the amnio gave us the answer of Isochromosome Turner Syndrome, yet an even rarer form of Turners. Read more on our diagnosis, here.
Additional Support or Resources Provided: Our genetic counselor was always very clear and thorough from the start, providing many links and files with educational information, always answering my emails or phone calls when I had a new question. I learned a lot through an online parents group and lastly, speaking out about the diagnosis we were given — about every 10 people I spoke to knew someone, who knew someone with a daughter that had Turners, and I was connected with a couple of these mothers early on.
Challenges Experienced So Far: Elvie is still so young. As of right now, we have zero health concerns, besides the fact that she’s small (started at 60% for height, now 8%), which we monitor and will further growth with hormone therapy when needed. My biggest challenge is reminding myself she is simply my baby and in no way should I compare her to others. Low muscle tone is common so I worry a lot she’s not hitting infant milestones on time (we have early intervention therapy once a month)… If we didn’t have a diagnosis, I sometimes wonder if I’d even think twice at what age she’s rolling over, etc.
Advice for the Next Mom with a Turners Diagnosis: Be comfortable and sure of your medical team. If you have any hesitation, make a change – you will forever be her biggest advocate so start early. My initial doctor overseeing my pregnancy sat and read “What is Turner Syndrome” off a website to me after the diagnosis… This syndrome absolutely NEEDS more information readily available to medical professionals. At 30 weeks pregnant, I made the final decision to switch to a doctor who has experience and also recommended a pediatrician and endocronologist for Elvie who had experience with Turners. I’ve never felt more comfortable and sure of the overall care we are receiving.
What Do You Want Others to Know: If you hear about Turner Syndrome… please ask more about it! If you know us personally, keep asking us… Every single day is a new and exciting day for us. I wish I could tell everyone that crosses our path all about my daughter’s X chromosome, but I can’t. Elvie was given life and I find every reason to shout this to the mountains. The internet is such a scary place and I’d hate for our family and friends to seek out information there when you’re so close to the source itself.
Names: Sarah and Lily, 4
When and How Diagnosed: Prenatally via ultrasound Lily had a cystic hygroma, and they suspected Turner Syndrome. Her diagnosis was confirmed a couple of days after birth.
Additional Support or Resources Provided: From the doctor, little if none. We met with a genetic counselor, but it was all doom and gloom. After that I scoured the Internet for any morsel of hope, and I just kept finding these awful textbook pictures (you’ve probably seen them) of a girl with TS. I had a blog at the time – still do, but don’t really write much – because I had been on a weight loss journey, and I made it my mission to make sure that when you search “Turner Syndrome” you see pictures of our normal, beautiful, girls!
Challenges Experienced So Far: Growth issues and ENT issues. From the beginning, Lily was not on the charts for growth – she’s always struggled and we started growth hormones at 1 year old. She’s on her 5th set of tubes + tonsils and adenoids out + sinus surgery!
Advice for the Next Mom with a Turners Diagnosis: It will be OK. Sounds cliche and it might not be the version of OK that you envisioned in your head, but I cannot imagine my daughter any other way than the way that she is right now. Yes there can be lots of appointments, diagnoses and days where you just want to crawl in a hole and cry, let yourself have your pity party, but don’t wallow in it too long. You have to advocate for your child. Do research, talk to other moms, push the doctors and trust your instincts. Oh and save lots of money because dang, growth hormones are expensive!
What Do You Want Others to Know: My daughter is just like your daughter, just a little smaller, a few more medical issues, and honestly probably smarter – ok just kidding, but seriously this kid is a riot. Her vocabulary is like a teenager at this point and she’s 4! She brings a smile to all she meets!
Names: Molly and Emilia, ONE year on February 3
When and How Diagnosed: At our 20 week ultrasound, she was found to have a cystic hygroma on the back of her neck. My OBGYN had us do the Verifi -prenatal genetic test to help determine if there was a genetic disorder playing a role. The very next day we were seen for a Level II ultrasound to get better 3D imaging and she also showed slightly smaller long bones of the arms/legs. We then met with a genetic specialist (prior to Verifi results) who presented us with information on Turner Syndrome, Noonan Syndrome and Down Syndrome. Based on the ultrasound, they were feeling confident that our baby had TS. After a whirlwind of emotions and a weeks time, the Verifi results came back 99% sure that our baby girl was monosomy X, better known as Turner Syndrome.
Additional Support or Resources Provided: We met on 2-3 occasions with a genetic counselor to better understand the diagnosis and how much it can vary in girl to girl, as Turner Syndrome is truly a spectrum. We had level II ultrasounds at least twice a month to monitor growth and activity, a handful of fetal ECHO’s to monitor her heart and watch for classic abnormalities, and during the last trimester, had weekly biophysical profiles to assess her well-being. We also started building a team of specialists that would eventually be involved in our daughter’s care. Prenatally, this included maternal fetal medicine, endocrinology and cardiology. Once she was born, additional people were added to her team. Emilia’s current medical team consists of the following: Endocrinologist, Cardiologist, Urologist, Speech Pathologist, ENT, Neuro-Surgeon, Early Intervention Specialists (PT/OT), Pediatrician, Ophthalmologist.
Challenges Experienced So Far: One of the biggest challenges for us has been all the medical appointments, especially in the beginning while building a trusted team of professionals. The majority of maternity leave and PTO from work has been spent at appointments or procedures for Emilia. All the work/time has been worth it, as we feel she has an incredible team. Other challenges that presented after birth that are unique to Emilia, include a cleft palate, tethered spinal cord, cervical stenosis, and horseshoe kidney. These of course added more specialists, appointments, and surgical procedures throughout her first year.
Advice for the Next Mom with a Turners Diagnosis: Stay off the internet! Let the health care professionals (ie, genetic counselors) provide you with the necessary information. Most importantly, start forming a team of professionals that can guide you along this unknown path. When looking for a pediatrician, ask a lot of questions and find someone who has some knowledge of TS, or who is at least willing to do the research to provide you with guidance along the way. Without our pediatrician’s recommendations, we may have missed some valuable key players in our daughter’s care.
Try your best not to compare your daughter to other children, as she will meet milestones in her own time frame, and that is OK! Early Intervention is available for girls with Turner Syndrome, and I highly recommend any services that may be appropriate for your daughter.
Another piece of advice for your relationship with your spouse/partner, or other loved ones: Respect each other’s coping mechanisms, listen to each other, and allow each other to grieve this “change in expectations” in your own, unique way. Going through the grieving process allowed me to more fully embrace this diagnosis, advocate for her, and enjoy every aspect of Emilia!
What Do You Want Others to Know: These girls are statistical miracles. They are unique from one another, yet they are all fighters – including the girls that don’t make it to live birth. I’ve been surprised how many women have been “suggested” to terminate their pregnancies based on this diagnosis during prenatal testing (as I’ve learned through a TS support group). Only time can tell how affected a girl may be by TS. By increasing research and awareness of Turner Syndrome, better support and resources can be made available for these girls/women throughout their lifespan. A healthy, independent, productive lifestyle is possible with Turner Syndrome.
Names: Sara and Emmerson, 2
When and How Diagnosed: We had received a referral for genetic testing when she was two or three months old. Emmerson had started out at a healthy weight then fell rapidly off the growth chart. Because of this and a few other medical concerns, our pediatrician gave us a referral for genetic testing. The process of getting insurance approval, having our initial appointment with genetics and receiving the diagnosis was an additional six – seven months.
Additional Support or Resources Provided: We were provided information about local support groups, the TSSUS local and national chapter information, Help Me Grow information, as well as contact information for future appointment needs with specialists. There was an abundance of information provided to us, a little over whelming, but it was all very helpful.
Challenges Experienced So Far: Our biggest challenge so far is that she is two and trying to sort out what challenges we are having because she is two and what challenges we are having that are attributed to TS. Sleep is another major challenge. There is not a lot of research out there right now regarding girls with TS and sleep disorders.
Advice for the Next Mom with a Turners Diagnosis: You are your daughter’s best advocate. There are lots of resources out there to help your daughters develop to their full potential. We knew something wasn’t quite medically right with our daughter. We had a pediatrician that supported us with our concerns and we were able to receive an early diagnosis. Because of this we were able to work to get all of the supports put in place helping her grow and work on reaching developmental milestones. Your daughters are beautiful, unique and full of potential. Don’t sell them short simply because of a TS or any other diagnosis your child may have.
What Do You Want Others to Know: Every baby girl born with TS is unique in how the syndrome presents itself. Some may have more medical concerns than others, some may have more challenges with social skills or non-verbal learning disorders. The key is early diagnosis and early interventions. I had bought a little t-shirt for Emmy that has the Michelangelo quote, “I’m still learning,” on it. That quote sums it up for us well, please be patient, she is still learning and we are still learning. She is still learning to run, jump and play like all the other children. So when you see us chasing her repeatedly up and down stairs because she doesn’t want to sit still, we have gone through lots of therapy to teach her how to run and climb and she has a lot of extra energy to burn. She is still learning to talk, listen and express her needs and wants and to develop and manage social skills. So if we are in the middle of a meltdown in the grocery store, or if she is loudly singing, talking or asking something repeatedly, we have spent a lot of time in speech therapy for her to be able to talk. Please be patient, she is still learning and it is a little harder for her than other children but she is also the funniest and sweetest little girl. We are all still learning how the diagnosis will affect her as she approaches school age, and how it will affect her as she reaches adulthood. We are learning together, and trying to do our best to support her growth and development.
To learn more, check out this health sketch video explaining Turner Syndrome.
You can also visit our local Minnesota Turner Syndrome Society chapter site here.