Our Own Mystery Diagnosis

My daughter, Audrey came into the world in September 2006. My pregnancy with her was extremely easy with no complications. Even the ultrasounds showed that everything was fine, and we were thrilled to be having our second daughter. About 3 weeks before her due date, I went into labor, and on September 9th, Audrey was born. She was so tiny, weighing only 5 pounds and 10 ounces.

It wasn’t long before we realized that Audrey was going to be a fussy baby. She cried virtually nonstop and nothing seemed to soothe her. The crying went on for a solid nine months before she began to have some peaceful moments. Throughout this time, she also refused to nap at all. When she did happen to fall asleep, she didn’t stay asleep for very long.

During those first few months, I took her to our pediatrician for her routine well baby checkups. But by the second visit, our pediatrician was concerned Audrey was not gaining any weight or growing. Even though we were doing everything we could to ensure she was receiving enough nutrition, there was no change in her weight.

Our pediatrician couldn’t pin point the reason as to why she wasn’t gaining weight, and sent us over to the children’s hospital to consult with a geneticist. Even after they ran tests and spoke with us at the hospital, we left with no answers. We moved on to another specialist - a gastroenterologist - as we continued our quest for answers. He did rule out Celiac disease, which is much more common in girls with Turner syndrome, but I didn’t know that at the time.

We came home with a nutrient-dense formula for weight gain, but again, we had no answers. When Audrey was at an age where we could introduce solid foods, we began to try new things, always hoping for the best. The problem was that Audrey couldn’t tolerate any kind of textures in her foods. The smallest lump would cause her to gag and vomit. At the same time, I was noticing she was not making gestures like pointing or waving. She was missing critical milestones. I had our county’s early intervention team over to evaluate Audrey because of our concerns, but even though Audrey was delayed, they failed to qualify her for assistance.

We moved on to a feeding specialist to see if we could find creative ways to help Audrey with her food sensory issues. Luckily, she began to gradually move past the feeding issues and things seemed to be looking up. Around this same time, our family moved to Florida to be closer to family. I found a local pediatrician to work with us as well. Audrey began having ear infections more frequently, and often she was completely unaffected by the pain. She had an incredible pain threshold which also meant we were unaware when she was suffering an infection. When fluid is trapped in the ears, it can cause hearing loss. Audrey’s tonsils were also very enlarged, and we were concerned about them affecting her eating and breathing.

By age 3, Audrey had her first surgery to remove her tonsils and adenoids - and boy, was she was a trooper! It was not long afterwards that she had another surgery to place ear tubes in her ears to help prevent new ear infections. Because Audrey had not outgrown her delays, she was evaluated by our new county and she qualified for an early intervention pre-K program through the public schools. During school, she received occupational therapy for her fine motor skills, and we supplemented with private occupational therapy as well.

Audrey’s pediatrician referred us to an endocrinologist because she was still significantly behind the growth curve. This time, weight was not the only concern because her height had also fallen off the charts. The endocrinologist evaluated her, and after running a few tests, he determined she was growth hormone deficient. He recommended starting Audrey on growth hormone (GH).

I remember leaving that appointment feeling relieved that we had some answers, but something in me still felt there was more to this puzzle. I can’t explain why, but I kept searching for answers because there were too many things going on, and I felt like they must somehow be related. I poured over the internet looking for a connection. Audrey was happy and enjoying school, but she was also a very hyper, energetic child who never slowed down. She had more energy than any other child I’d seen, and she never seemed to need any downtime. Audrey also didn’t seem to learn from her past experiences. She had no sense of fear, and no sense of cause and effect.

This really concerned me, and I desperately wanted answers. One day, I just happened to watch a segment of a television show called “Mystery Diagnosis”. The segment featured a little girl with Turner syndrome (TS) and, as they were piecing her syndrome together, the mom was trying to connect the puzzle pieces of her own daughter’s issues, just as I was.

It was my “light bulb” moment and I set off on a quest to learn all about Turner syndrome. The more I researched, the more it made sense that Audrey could very well have TS. Her lack of growth, her shield shaped chest, her sensory issues, her chronic ear infections, her large number of moles, and low set ears were suddenly jumping out at me now that I was keenly aware of the physical manifestations of TS.

I called Audrey’s endocrinologist and asked them to run a karyotype test on her because I needed to know if she had TS. I’m pretty sure they thought I was nuts for asking. In hindsight, it seems crazy that I had to even ask for the obvious, but I persisted, and they performed the test. The day before Audrey turned 4, she was officially diagnosed with Turner syndrome. We had to check her heart, which showed no issues, and her kidneys, which are horseshoe shaped, but otherwise fine. Her hearing was also monitored closely. By age 5, it was determined she had suffered hearing loss, and our audiologist recommended she be fitted for her first set of hearing aids.

After a while, we were noticing more and more signs of NLD (nonverbal learning disorder) which many - if not most- TS girls have in varying degrees. Audrey was struggling with fine motor skills, visual-spacial skills, and processing and social deficits. On the other hand, she had incredible rote memory skills, and she taught herself how to read! I read many books on NLD to try and understand it and to find ways that we could better communicate with Audrey. We wanted to understand how she navigates the world. She was formally diagnosed with NLD at age 7 by Dr. Dean Mooney and his team at the Maple Leaf Clinic.

As soon as we received her diagnosis, I began to connect with organizations like TSSUS to surround myself with others going through a similar journey. We attended two TSSUS National Turner Syndrome Conferences and a regional conference that provided incredible amounts of information and connected us with an amazing network of TS families. I remain very active online in various TS groups because it is my goal to help and support other parents.

Additional Resources

A Patient Guide to Infant and Toddler Feeding Issues in Turner Syndrome

The Ears and Hearing in Turner Syndrome

Growth and Height in Turner Syndrome

Health Care Guidelines and Checklists

Nonverbal Learning Challenges (NLD) in Turner Syndrome

Dr. Dean Mooney and the Maple Leaf Clinic

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