Zedekiah Grey Martinez

On May 22, 2024, we were blessed to welcome our precious son, Zedekiah, into the world via a planned C-section. The delivery, however, was difficult, as the placenta was inadvertently cut during surgery, resulting in Zedekiah being born blue, purple and not breathing. The NICU team worked quickly to resuscitate him, and the moments until he took his first breath felt like an eternity. When I finally heard him cry, I felt an overwhelming sense of relief. He weighed 6 pounds, 7 ounces. After the surgery, we were moved to a recovery room, where the first signs of concerns began to emerge.

Initially, Zedekiah had significant difficulty latching during breastfeeding and exhibited a weak suck. It was suspected that this issue stemmed from a tongue tie, which was clipped during our hospital stay in hopes of improving his feeding. Despite this intervention, once we were home, his feeding challenges persisted. He continued to struggle with latch issues, frequently falling asleep at the breast, which extended feedings to over an hour. This made it difficult to gauge how much milk he was consuming. We attempted various feeding positions and used techniques like rubbing his hands and feet to keep him awake. However, the lengthy feedings were concerning, as his doctor advised that feeds be completed within 30 minutes to prevent him from burning more calories than he was consuming.

During follow-up appointments, it became evident that Zedekiah was not gaining weight as expected. To better monitor his intake, we switched to bottle feeding. Despite this change, his latch issues persisted, and we consulted multiple lactation specialists. They identified that Zedekiah had a high-arched palate and a recessed jaw, both contributing to his feeding difficulties. After trying various bottles, we found two that worked best for him. At this point, we were referred to a nutritionist who helped us fortify his milk to increase his caloric intake.

At his two-month checkup, we were concerned to find that he was not meeting several key milestones for his age. He had poor head control, could not lift his head during tummy time, and exhibited axial hypotonia (low muscle tone). He also did not smile or coo, and he was unable to track objects with his eyes causing worry he may be blind. Of particular concern were periods of abnormal eye movement, during which his eyes would deviate upward for brief moments before returning to normal. After showing a video of these movements to his pediatrician, it was suspected that he might be experiencing seizures.

Following this appointment, an EEG was scheduled to monitor Zedekiah’s brain activity. The EEG results indicated "Interictal abnormalities," with frequent sharp waves and slowing in the left parieto-occipital (P3 and O1) and right parietal (P4) regions of his brain. While no seizures were detected during the abnormal eye movements, the EEG showed signs of potential seizure activity in these areas. We were reassured that just because there was abnormal brain activity, it did not necessarily mean Zedekiah would experience seizures in the future, though it did suggest a higher likelihood.

Subsequent to the EEG, we were advised to have additional tests done, to help determine whether it was a structural change within his brain or a metabolic issue. This would include needing blood work, an MRI, CT scan and an appointment with an Ophthalmologist, in order to rule out other potential causes for his abnormal eye movements, low muscle tone, difficulty gaining weight, and loss of visual tracking. 

When the blood work results came back, we were alarmed to find that his ammonia levels were elevated at 142 (normal range: 9-30). After discussing the results with an on call doctor, we were recommended to take Zedekiah to Doernbecher Children's Hospital for further monitoring and to repeat the test. During our stay at the hospital, the medical team decided to admit Zedekiah for monitoring to ensure his ammonia levels decreased appropriately. While there, he underwent an MRI, which returned normal results. 

Over the course of his stay, Zedekiah’s ammonia levels returned to the normal range, and we were informed that the initial elevated readings may have been due to a "dirty draw." Before discharge, the final blood test conducted was a whole genome sequencing panel, with results expected in about a week, in hopes of providing insight into the unexplained symptoms Zedekiah had been experiencing. While awaiting the results, Zedekiah was evaluated by an ophthalmologist, who diagnosed him with Delayed Visual Maturation.

On August 7th, 2024, we received a call from the genetic counselor, who confirmed that Zedekiah had been diagnosed with CRELD1. We were asked if the symptoms associated with this genetic disorder seemed consistent with what Zedekiah had been experiencing, and the match was striking. While the diagnosis was unexpected, it provided us with much-needed clarity.

During Zedekiah's CT scan, it was identified that his skull plates were prematurely fusing, a condition known as Bilateral Partial Lambdoid Synostosis. This is a rare occurrence, as the plates at the back of the head typically do not fuse prematurely. Given Zedekiah's diagnosis of CRELD1, there is an increased risk of microcephaly, which complicates the decision to pursue corrective surgery. Performing such a surgery could create excessive space within the skull, potentially requiring the placement of a shunt to manage excess fluid.

On September 20th, Zedekiah had his first seizure, which lasted for an hour and led to his admission to the PICU, where he experienced another seizure. Since then, he has had a total of seven seizures, each requiring emergency rescue medication and ambulance transport. Following the first seizure, an NG feeding tube was placed due to difficulties with swallowing, as Zedekiah often choked during bottle feeds.

Zedekiah is currently 6 months old, weighing 13 pounds and 13 ounces. He is receiving physical therapy and has made remarkable progress, including being able to lift his head during tummy time on flat surfaces and sit upright with core support. He has also been prescribed glasses, which have helped improve his vision. Zedekiah has recently started eating solid foods, with bananas being his favorite. Despite the challenges, Zedekiah is a joyful and content little boy who loves to laugh at his older sister and brother.