The other day I mentioned that Ella had Turner Syndrome in an instagram post, I received so much positive feedback and questions that I wanted to share a quick post with more details. I always debate on sharing or how much to share because I don’t ever want Turner Syndrome to be something that defines her or holds her back but just something that she has and can be shared to encourage others! Most people are like me with questions and had never even heard of TS until Ella. And then there are the messages that are always heart breaking when moms reach out and say that they lost a daughter to TS and it makes me want to squeeze my girl a little tighter. So hopefully this post will help enlighten and also encourage any other new mom who just received the dreaded phone call and give you a little hope!
Our story is kind of long but I feel like I have to share details to show how God was in every detail. Ella was born at 38 weeks and appeared perfectly healthy! I had a normal pregnancy and delivery with no issues. She did have to get an ultra sound at 2 weeks old where there was concern about a small dimple on her lower back and they were not sure if her spinal chord had fused or not. Thankfully it was fine. When Ella was about 7 months old she started getting ear infections, and by her first birthday she had already had about 8. So shortly after her first birthday she received her first set of tubes. After tubes she was still getting ear infections, along with 2-3 ruptured eardrums and by her 3rdbirthday she needed another set of tubes. I also just want to put a disclaimer that I try to be as natural as possible, we were also using oils, chiropractic care and anything else I could try.
At the time we were living in Los Angeles and did not have the greatest insurance because my husband was self-employed. At one of Ella’s ear infection check ups, which I forgot to add that because of so many doctor appointments, Ella was a challenge to take to any doctor appointment. She screamed from the time we walked in the door until we were back in the car. Seriously top of her lungs! Anyway back to the appointment…the doctor had mentioned he thought she may have Turner Syndrome and was sending her to a genetic specialist. So I did what any mom would do and went home to Google! We then saw the specialist and he looked her over for about 15 minutes examining her arms and legs, asking Jason and I both questions about our family history, and many other questions. At the end of the appointment he said “I don’t think she has Turner Syndrome, mom and dad are not very tall and I don’t think she has enough physical characteristics.” So he did not request the blood test. I said ok great, nice to meet you and off we went. Today when I think back to this appointment I always think why did I not request the blood test?! Well to be honest Beckett was maybe 6 weeks old so I was only half way thinking normal with the lack of sleep and I think we put a lot of trust in doctors opinions.
So fast forward a year later, we moved back to Nashville to be close to family. We finally had good insurance and a month after we moved I took Ella to her 4-year check up. At that check up is when the doctor heard the murmur, which led to her coarctation. You can read more about that on my previous post. Anyway I had remembered reading in my Google search from a year ago about how heart conditions were common with girls with TS, so I asked my pediatrician to do the blood test. He said he would but he did not think that she had it. I also asked my cardiologist and he had the same response, “I don’t think she has it.”
I share all of that to say that you know that “mom gut” we all have? Well I’m thankful for once I listened to mine and continued to ask for the test. A few weeks after Ella’s heart surgery our pediatrician called and I’ll never forget, he said, “I’m honestly surprised, but her test came back positive.” This then led to a list of routine doctors where we learned so much more.
Turner Syndrome affects 1 in 2500 girls. And like most girls with TS we began to see a lot of doctors. We had already handled multiple ear infections with ENT as well as audiology, coarctation of the aorta repair along with a bicuspid valve with our cardiologist, we learned Ella has a horse-shoe shaped kidney that continues to be monitored for hydronephrosis by her nephrologist, ophthalmologist where we learned her left eye was delayed in development and she began to wear glasses, but thank fully has now corrected itself. We also see endocrinology where we learned about non-functioning ovaries and how she will need estrogen and progesterone for puberty. Currently she also takes daily growth hormone injections to help her grow after falling off the growth chart. Her endocrinologist also monitors her thyroid because girls with TS have a higher risk of hypothyroidism, autoimmune diseases like hashimotos, celiac disease, and Type 1 diabetes. So she spends a lot of time getting poked and blood drawn. We have also seen an orthopedic to help monitor her knees and growth development. I often joke about how we need a frequent buyer card at Vanderbilt. I’m very thankful that we do have some of the best doctors looking after her, but it does get exhausting.
If you are a new mom just learning about TS, one of the best advice I heard was give yourself permission to grieve. Yes it’s a lot to learn and take in but it’s going to be ok. And stay away from google! The Internet can be so negative and give you little hope, but these girls are such fighters and do not let much hold them back! Ella continues to amaze me everyday!