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 3rd birthday 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 our doctors.
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 discovering her coarctation and need for open heart surgery. Although it was one of the scariest days of my life, I’m so thankful for her team of doctors and support we had at Vanderbilt Children’s for her surgery. 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 also see an orthopedic to help monitor her knees and growth development. Last summer Ella had plates inserted to help with dislocation, and will have another surgery later this year to remove the plates. 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.
Although she has been through a lot, I’m always encouraged and amazed with her determination. I’m also thankful that I can say I’ve truly seen God’s hand in every step of the way. So even when days seem hard, keep trusting, he’s always there!