A New Diagnosis for Davy

Thursday, April 29, 2021

Davy had an appointment with his geneticist that day to find out the results of his Whole Exome Sequencing or WES. It had been a few years since we'd done any genetic testing for Davy, and I was fully expecting the results to be the same as the other tests we'd done with nothing significant found. 

Several years earlier, our geneticist had told me that despite diagnosing Davy with hypermobile Ehlers Danlos Syndrome, she felt that he had another genetic syndrome as well and wanted to keep looking. EDS explained a lot of his issues, but there were still some things that didn't quite fit in that box. Multiple genetic tests had always come back negative so we had taken to writing things off as "that's just Davy!"

Once we were back in the exam room, I tried to keep a very impatient Davy calm and occupied while Hubby and I waited for the geneticist. 

When she entered the room, she had a stack of papers in her hand and a triumphant smile on her face. 

"We have answers!" 

I just about fell off my chair. I had been expecting her to tell us the test was negative, just like we'd been told so many times before over the last seven years. 

She started asking us questions that she already knew the answers to, having followed Davy since he was a year old: 

Did he have feeding issues? He had to have a feeding tube as an infant to keep him from starving to death.

Was his hair thick and curly? For sure. If we didn't keep it short, it was uncontrollable.

Did he have speech issues? He had a diagnosis of apraxia and struggled to speak and be understood. 

Did he have hypotonia? Yes, definitely.

As the questions continued, I was stunned at how well they fit Davy. It turned out that he had tested positive for a mutation on the CDK13 gene or CDK13 related disorder. It was newly discovered in 2017 and medical literature noted that only 44 individuals worldwide had been found to have it. Our geneticist had never even heard of it before Davy was diagnosed. 

When the geneticist was done talking to us, the genetic counselor sat down to help us navigate our new reality. He recommended joining a CDK13 support group on Facebook that he had stumbled on in his search for some information to share with us. Davy had two more appointments that day and before we had left the clinic, I had already found the group and requested to join. When the administrator contacted me to verify Davy's diagnosis before admitting me into the group, she mentioned that she had been able to easily pick Davy out of my profile picture, which had all four of my kids in it, based on his facial features which are unique to people with CDK13.

Once I joined the group, I found that CDK13, while very rare, isn't quite as rare as what our geneticist thought. We were the 170th family in the world to join the group because of their child's diagnosis and the group continues to grow. After seven years of not having answers to Davy's unique issues, being able to talk to other families and getting to "meet" their awesome CDK13 kiddos (many of whom look like siblings to Davy!) has been so amazing. 

We don't know exactly what Davy's future holds, but we do know that he doesn't have any of the potentially life-threatening issues that people with CDK13 sometimes have such as a heart defect or seizures. He does have quite a few of the other symptoms of it such as unique facial features, thick curly hair, speech issues, developmental delays, hypotonia, feeding issues, autism, gastrointestinal issues, reflux, and more. Some kids with CDK13 tend to be very cuddly and loving and Davy definitely has that trait which is one of the things I love about him. I wouldn't change him for the world. No matter what struggles he faces in life, he is exactly how God designed him and we will support him to always do his best. Davy is an amazing blessing and he is who he is because of his CDK13, not in spite of it. 

This shirt is available at the Sunshine and Spoons Shop

September 2nd is CDK13 Awareness Day. I'd love for you to help spread awareness so hopefully other families can find the answers and support they need. 

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September 2nd is CDK-13 Awareness Day! If you've never heard of it, learn more here: https://bit.ly/3zH4j8U

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