When a Mother Knows
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 our story. 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 rather something that she has, and that can be shared to encourage others. Most people in our life are like me; they have questions and had never even heard of TS until Ella. And then there are times when moms reach out and say that they lost a daughter to TS. This is heartbreaking, and it makes me want to squeeze my girl a little tighter. My hope is that my story 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 must 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 ultrasound at 2 weeks old, because there was concern about a small dimple on her lower back. They were not sure if her spinal cord had fused. 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 eight. So, shortly after her first birthday, she received her first set of tubes. Even after the tubes, she was still getting ear infections, along with 2-3 ruptured eardrums. By her third birthday, she needed another set of tubes. I want to add 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 didn't have the greatest insurance because my husband was self-employed. At one of Ella’s ear infection checkups (I forgot to add that because of so many doctor’s appointments, Ella was a challenge to take to any doctor. 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 might have Turner syndrome and was sending her to a genetic specialist.
I did what any mom would do, and I went home to Google! We then saw the specialist and he looked her over for about 15 minutes – he examined her arms and legs, asked Jason and I questions about both of our family’s histories, 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 of the physical characteristics.” So, he didn’t 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, our younger child, Beckett, was only maybe 6 weeks old, so I was only half way thinking normally with the lack of sleep, and I think we put a lot of trust in our doctor’s opinions.
Fast forward to 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 checkup. This is when the doctor heard her heart murmur, which led to the discovery of her coaction of the aorta and bicuspid valve. I remembered how I’d read about how cardiac issues were common with Turner syndrome from my internet searches last year, and mentioned that to the cardiologist and asked again for the blood test. He said he didn’t think she had it, but the test was ordered.
A week later, she went for a sedated MRI to get a better look. Again, this is usually diagnosed early on, and I was in shock that she was 4 and we were just learning all of this. As a mom, I was thinking back to the nights we let her cry it out as an infant, and questioning if we should have let her participate in dance and gymnastics - all of the mom guilt thoughts. I also found myself just mad that no one had ever caught this! We moved a lot, so she had four different pediatricians, and none of them ever heard a murmur. I later spoke to my sweet friend Stevi in LA, and I’ll never forget her saying “God is sovereign, and we don’t always understand his timing, but he’s got her”.
After her MRI, we were told she would need open heart surgery. We were given a couple of different options for surgeons, and each has their own repair technique, so I was even more overwhelmed. I called a friend who is an ER doctor at Cedars-Sinai to ask for advice. She suggested I meet with a pediatric cardiologist friend of hers out there for a second opinion, so we hopped on a plane and flew back to LA. After he looked at her MRI, he said “the best guy for this job and her condition is a friend of mine from med school, and he works at Vanderbilt Children’s. How far do you live from there?” He knew we lived in Tennessee, but didn’t realize Vanderbilt was in our back yard. It was the same surgeon who had been referred to us by another source, so for me it was my God wink that we were making the right choice.
We met with cardiac surgeon, Dr. Bichell, and he explained the surgery. Of course, in my brain, this was how I understood it . . . he would just cut the narrow part that was restricting blood flow where her coarctation or narrowing was and sew it back together. Sounds easy, until it’s your child and they explain the ventilator, chest tube, and how they will stop her heart for a moment to do the repair.
One of the hardest parts leading up to her surgery was her pre-op appointment, where she had to sit still for blood draws and other tests. She had a few meltdowns, but thankfully, Vanderbilt Children’s was stocked with toys and ready for anxious kids like her.
The morning of Ella’s surgery, we had to be at Vanderbilt at 6 a.m. I remember sitting in the passenger seat quietly because I had no words, as I was seeing the most beautiful sunrise while having this crazy peace that she was going to be ok. ‘And the peace of God, which surpasses all understanding will guard your hearts and your minds in Christ Jesus.’ - Phil 4:7
After we arrived and they called us back, she was a little uneasy because after so many doctors’ appointments, and she became terrified. Thankfully, Vanderbilt has a great child life team to help calm children down, in fact, that’s what Ella now wants to be when she grows up – that and an actress! When her anesthesiologist came to take her back, he carried her off singing Veggie Tales songs and she was singing along.
Then came the hard part, the waiting . . .
Ella’s surgery was almost 3 hours, but felt like forever. I will never forget the number of friends we had at the hospital. So many special people had come by just to hold our hands, pray with us, bring food, extra coffee, etc. We even had friends from across the country fly in just to be with us and other friends who called and prayed with us over the phone. I’ll also always remember the friend who was texting me scripture every few minutes. Something so small meant so much.
Every hour the nurse would call to give us an update. The best was when she called to say he had completed the repair and was closing her up. Dr. Bichell finally came out to tell Jason and I that everything had gone well. I have never been so thankful! We had to wait about 1-2 hours before we could see her, and it may have even been longer. The day was a blur, which is one of the reasons I’m writing this, to remember what I can. We were finally able to see her in the PCICU. They were already surprised at how well she was doing. The next step was getting her blood pressure down so she could be moved to the recovery floor.
The next few days were a challenge with trying to keep a busy child occupied and getting her blood pressure down. They were finally ready to remove her chest tube, which I think was pretty painful for her, and the IV out of her neck. There were 2 fewer items attached to her. Once they removed those, she was able to move a little more and even managed to walk around the floor a little bit. After just a few days in the PCICU, she was ready to move to a regular room! We spent a total of 5 days at Vanderbilt, which to me was remarkable watching how quickly a child can bounce back after such a big surgery.
I have nothing but great things to say about the care she received from Vanderbilt Children’s Hospital. I’ll never forget being so exhausted, because let’s be honest, it’s hard to sleep in a hospital chair with a machine beeping every few minutes, and Ella being wide-awake at 2 am. One of the night nurses came in and said, “you rest, she can come sit with us at the nurse’s station.” It was also my birthday, so I think that was the best birthday present! We were finally ready to go home! With lots of extra goodies!
I share my story to say that you know that “mom gut” we all have? Well, I’m thankful for once that I listened to mine and continued to ask for the test (karyotype to diagnose TS). A few weeks after Ella’s heart surgery, our pediatrician called and I’ll never forget, he said, “I’m honestly surprised, but the test came back positive.” This then led to a list of routine doctors’ where we learned so much more.
Turner syndrome affects approximately 1 in 2,000 girls and women. Like most girls with TS, we began to see a lot of doctors. We had already handled multiple ear infections with an ENT and audiology, coarctation of the aorta repair along with a bicuspid valve with our cardiologist, and we learned that Ella has a horseshoe shaped kidney that continues to be monitored for hydronephrosis by her nephrologist. We discovered her left eye was delayed in development from her ophthalmologist, and she began to wear glasses, but thankfully, that’s now corrected itself. We also see endocrinology where we learned about non-functioning ovaries and how she will need estrogen and progesterone for puberty. She also takes daily growth hormone injections to help her grow after falling off the growth chart. Her endocrinologist monitors her thyroid function, because girls with TS have a higher risk of hypothyroidism, and autoimmune diseases like Hashimoto’s, Celiac disease, and Type 1 diabetes. She spends a lot of time getting poked and having blood drawn. We have also seen an orthopedic specialist 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’re a new mom just learning about TS, one of the best pieces of advice I heard was to 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 random internet searches! Rely on the expert web pages like turnersyndrome.org The internet can be so negative and gives you little hope, but these girls are such fighters and they don’t let much hold them back! Ella continues to amaze me every day!