John Davis’ Diagnostic Journey

Meet JD!

John Davis loves cars, trucks, trains, and airplanes. He enjoys swimming, swinging at the park, going to the zoo, and playing with his baby sister

Shared by Rachel, mother of JD:

When John David (JD) was born we were surprised to find out that he had bilateral vertical talus. At one month old, we also found out that he had bilateral hip dysplasia. He was born breech. The doctors thought that the hip dysplasia might have been caused by his positioning in the womb and that the vertical talus was likely an isolated case. JD was in a hip harness full time for 3 months to correct his hip dysplasia. His feet were then treated at 4 months old. He underwent serial casting, surgery, and more casting. He finally went into boots and bar braces at 6 months old to help maintain the correction of the vertical talus.

JD was strong, resilient, and didn’t skip a beat. He learned to crawl in his boots and bar braces at 8 months old. He was happy, growing, and meeting his milestones. JD was in some form of bracing for his entire first year of life.

At a little over a year old, he was cleared by our orthopedic specialist to be out of bracing during the daytime. JD’s legs were very weak from being in full time braces. He didn’t bear weight without a lot of support at first. After just a few weeks out of bracing, he was making so much progress with gross motor skills. He was doing much better bearing weight and even starting cruising around. We were thrilled! We went ahead and asked for a Physical Therapy referral to help JD gain strength and catch up on skills. The PT we saw felt like he was on track given all that he had been through. She said she believed he’d be standing and walking in no time. JD continued to cruise on furniture, but other than that it seemed his gross motor progress had completely plateaued.

When JD was 15 months old, we talked to our pediatrician about getting another referral to PT as well as a genetics referral. JD was making progress in his own time. We couldn’t help but wonder if there might be more to his story and all of these oddities were somehow connected, though. When we finally got in with genetics they performed a microarray that came back essentially normal. Genetics told us to follow back up in year. They felt that while JD was meeting some milestones on the later side, he was still meeting them within the normal time frame. They felt it made sense that his gross motor delays were likely due to his orthopedic issues and weakness from bracing. This sounded like all good news- but the feeling that something more was underlying didn’t leave.

In the meantime, JD continued outpatient PT and started Early Intervention. We became concerned that his speech was a bit delayed as well. At our next orthopedic appointment we expressed continued concerns with our doctor. JD was working hard in therapies, but at 2 he unable to stand for longer than a few seconds without holding on to something. His legs were still so weak, and it seemed like there was some kind of miscommunication between his legs and his body. Our ortho listened and agreed that it would be a good idea to dig a little deeper with genetics. He also referred us to a neuromuscular doctor. We moved forward with further genetic testing.

In December of 2024, when JD was almost 2.5 years old, we found out about his DYNC1H1 variation through Whole Exome Sequencing (WES). Though receiving this diagnosis was very emotional, it made everything make sense.

JD started walking at 29 months old and became a big brother all within a couple weeks of receiving the news of his diagnosis. Talk about a whirlwind of emotions. JD just turned 3. He is one happy and busy boy! His biggest challenges include lower extremity weakness, balance issues, incoordination and an abnormal gait. He also has speech/language deficits. JD has lots to say but can be very difficult for unfamiliar listeners to understand.

JD just started preschool and receives speech, PT, and OT services through the school. He works hard in outpatient therapies weekly, as well. JD wears AFOs for added support when walking. He fatigues and falls more often when traveling longer distances. He’s getting fitted for a wheelchair this fall as another tool for him to use as needed. JD uses an AAC device part-time to help supplement his verbal speech and improve overall speech intelligently.

JD is kind, silly, loving, and he brings our lives so much joy! We are so thankful that he’s ours. 💙