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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I would appreciate it so much if you would share this post! You can also add a frame to your Facebook profile picture by searching for "CDK13" in the frames.

But If Not...: Praising God Through the Pain

At the beginning of July, Hubby and I packed up the whole family and we went for our fourth year to Camp Chetek's family camp. 

The week started off HOT and humid with temperatures reaching almost 95 degrees Fahrenheit on Monday. If you've been around here long enough, you probably know that heat and I don't mix. At all. Anything higher than about 70, and I'm headed straight for heat exhaustion. Generally speaking, if I get overheated, it takes me at least a week or two to recover depending on how bad it was. 

This time, I didn't have a chance to recover and gain any spoons back. I had to jump straight into a week of family camp.

On Monday afternoon, I was in a pretty awful mood. I was grouchy because I felt absolutely horrible, and I knew that the rest of the week would be more of the same. I had been hoping to do at least a few activities with the kids, but knew that it wasn't going to happen (we did do the escape room on Wednesday though and that was fun!). I felt like I was letting my family down by not being able to do things with them, and I was not too happy that my body was once again letting me down by being a total jerk.

That night was our first chapel service of the week. The speaker for the week was Ben Everson (whose preaching and music I highly recommend!) and his sermon on Monday evening was on chapter three of Daniel. In case you don't remember what happens in that chapter or you don't have a Bible nearby, it's the account of Shadrach, Meshach, and Abednego when they refused to bow down to the golden statue that King Nebuchadnezzer had set up. The king had commanded that everyone bow down to the statue and if they didn't, they would be thrown into a fiery furnace. Shadrach, Meshach, and Abednego's response to that command is found in verses 16-18.

Shadrach, Meshach, and Abed-Nego answered and said to the king, “O Nebuchadnezzar, we have no need to answer you in this matter. If that is the case, our God whom we serve is able to deliver us from the burning fiery furnace, and He will deliver us from your hand, O king. But if not, let it be known to you, O king, that we do not serve your gods, nor will we worship the gold image which you have set up.”

To sum up, they told the king that they would not bow down to the statue and that God would be able to save them from the fire. But the first three words of verse 18 are where it gets real. 

"But if not..."

Even if God didn't choose to save them from the fiery furnace, they would still serve Him.  

My troubles looked a little less daunting at that point. 

That night, I decided that if God allowed me to have health issues that week, I would still serve Him. Period. I would not allow those issues to ruin a week spent with my family learning more about Jesus.

Guess what happened next?!?

My health continued to tank all week. 

By Wednesday, all of the walking, the heat from Monday, the sudden plunge into cold temperatures (90s on Monday and by Wednesday, it was in the 60s), and everything else was really taking its toll on me. My vision was wonky and made me feel like I was walking around cross-eyed, my joints were in excruciating pain from giving out on me and subluxing, my muscles were spasming almost constantly, my fatigue was so severe that I could barely put one foot in front of the other and it didn't help that my foot drop had kicked into overdrive making me trip frequently, my autonomic system had taken a vacation and all of my signals (am I hot or cold? hungry or full? etc.) were mixed up. It will be weeks before I get back to my baseline.

But it was still a fun, encouraging week, and the only reason was because I chose to focus on God instead of my problems. I asked Him to heal my pain and fatigue so I could spend some time actually doing things with my family, but He didn't. 

"But if not..."

Some people would probably take this opportunity to ask why God wouldn't heal me if He truly loved me. I covered that in this post, but to sum it up, I learned a lot more and grew as a believer more last week at family camp than I would have if my health had been great. My circumstances do not dictate my relationship with God. 

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"But If Not..." Praising God through the pain : https://bit.ly/3ykNyQt

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Has there been a time in your life when you chose to continue to serve God through a trial? I'd love to hear your story!