Colton came into the world via induction at 34 weeks gestation due to complications of pregnancy. Because he was early, it was anticipated that he would require NICU care. However, he was born much sicker than we imagined.
Colton was born with underdeveloped lungs, an axillary laceration sustained during delivery, an atrial septal defect, and sepsis. He was immediately taken to the hospital's NICU and transferred an hour away to the nearest children's hospital. There, Colton was treated with antibiotics, stitched up, and weened off of oxygen support. His last task was to learn to eat by mouth, as he was born before developing the sucking reflex, and consistently gain weight.
After 5 weeks of feeding struggles, Colton was finally able to take feeds by mouth and gained weight for two consecutive days. Although feeding was difficult for him, we were discharged from the hospital. We were home for three days when Colton stopped breathing and turned blue during a feed. Back to the hospital we went! This time, although scary, it seemed minor. The doctors were confident that the cyanosis was related to reflux. He was put on a reflux formula and monitored for 10 days and we were discharged again.
Immediately after returning home, we noticed Colton struggling to breathe. He snored since birth, but it seemed to get worse as time went on. After feeds, he would struggle to inhale and become cyanotic. We were home for six days before returning to the hospital once again.
The doctors still believed the cyanotic episodes were related to reflux, but we were not convinced. We spent about two weeks going back and forth with the doctors about a course of treatment before they agreed to place a nasogastric tube for feeds. That night, the medical staff witnessed Colton experience multiple apneas and the following night, a sleep study was ordered. We were discharged the next day with a pulse ox monitor, an oxygen tank for emergencies, and the feeding pump.
Six weeks went by and we were able to stay home. However, it was the most terrifying time of our lives. Colton's pulse ox monitor alarmed every few minutes with dangerously low heart rates and oxygen saturation levels. He turned blue several times a day and required stimulation/position changes to resume breathing. We were desperate, exhausted, and terrified.
Colton's sleep study results were finally given to us and they showed that he was having 94 hypoxic events per hour. Anything above about 30 is considered severe sleep apnea. At that point, we decided to send Colton's records to a larger hospital a little farther away for a second opinion. Within minutes of receiving them, a nurse called and advised us to drive up immediately to be admitted.
During that stay, it was discovered that Colton had Pierre Robin Sequence and craniosynostosis. PRS is when the jaw does not develop forward enough in the womb. This causes the tongue to sit back too far and block the airway. Craniosynostosis is the premature fusion of cranial plates. Colton received surgeries for both conditions during that stay.
PRS and craniosynostosis are two incredibly rare diseases. Because Colton presented with both conditions, a genetic counselor was called in to determine if there is a genetic factor to his issues. The genetic counselor ordered what is called "whole exome sequencing". This tests all 50,000+ known genes for variants. Three months later, the results showed a mutation in Colton's KIF4A gene that was maternally inherited.
KIF4A is linked to structural brain differences, and because of Colton's developmental delay, a MRI was ordered. The MRI showed structural brain differences consistent with KIF4A mutation, microcephaly, hydrocephalus, and low brain volume. He is still primarily tube fed and is delayed in fine and gross motor skills, as well as speech.
Unfortunately, as there is little information on KIF4A variants, there is no definitive plan of action. The plan is essentially to sit and wait. We wait to see if Colton's condition is degenerative. We wait to find out if he will develop (already suspected) worsening seizures that drastically alter his personality. And, scariest of all, we wait to see if we will outlive our son.
We have since decided that we are done waiting! We have taken action by forming KIF4A Foundation. It is our mission to find and connect other KIF4A families, help increase diagnosis of KIF4A variant, raise awareness, and fight to accelerate research so that we may get a better understanding of the gene and find working treatments.
Find out more about KIF4A, how it functions, and diseases caused by KIF4A variant.