Cole’s Journey:

Sweet little Cole was born on January 5th. Due to some anticipated brain abnormalities, he was admitted to the NICU about 20 minutes after birth. He spent 3 days in the NICU where he had an MRI of his brain, genetic testing, and various other tests and evaluations. After being discharged he had several visits with the pediatrician, and despite having his calories increased he was continually losing weight. On January 22, Cole was admitted to American Family Children’s Hospital in Madison due to his weight loss. He remained in the hospital for 5 days where he had a nasal gastric tube placed and his weight monitored closely. To help understand his situation better, he was visited by many specialists including neurology, genetics, speech language pathology, occupational therapists, and physical therapists. He did start gaining some weight with the NG tube, so he was discharged on the 5th day. He has continued to see an outpatient speech language pathologist and occupational therapist. Shortly after the hospital stay, we received the results from the genetic testing. Cole has two mutations on the Tubb3 gene. This is a very rare gene mutation. There is not very much documented about it, but the people who do have it tend to have variable degrees of severity. It will be unpredictable as to how Cole will be moving forward, and the main goal will be to keep him healthy at every stage of life and see how he is as an individual. At around 2 weeks of life, he also began having breath holding episodes. These began very mild, and he would only have an episode every few days. Over time, they became much more severe and frequent. On February 17, he had an EEG to see if he was having seizure activity. Fortunately, he had an episode during the EEG, so they were able to confidently rule out seizures. Unfortunately, these started happening several times a day, and his oxygen was getting dangerously low during the episodes. On February 24, he was re-admitted to the children’s hospital in Madison for his episodes as well as failure to gain weight. He has had many tests and evaluations to try to determine the cause of these episodes. He also had MCT oil added to his diet to help with weight gain. Today, March 3rd, he is having a gastric tube surgically placed in his stomach, and they will be doing a full scope of his airways and lungs while under anesthesia. Moving forward we will be praying he continues to gain weight, and that the doctors can determine the definitive cause of the episodes as well as a solution to them.