Nick was born on January 23, 2001. He was our third child. We knew before he was born that he was going to have a cleft lip and palate. When he was born, it was obvious there was much more wrong. The doctors recommended an immediate transfer to Children's Hospital, where he spent his first month of life.
During that first month, we were told that he had 2 spots in his brain that were either cysts or hemorrhage (never did get the same answer twice), small eyes, coloboma (technically cleft of the eyeball, visible as keyhole shaped pupils) and detached retina in both eyes, leaving him blind, profound nerve deafness, of course the cleft lip and palate, an inability to swallow correctly and safely necessitating a surgically placed G-tube, "significant" acid reflux requiring a surgical procedure called a Nissen wrap to correct, he had positional difficulties breathing and no one knew why, a testosterone deficiency resulting in a very tiny penis (called micropenis) and was at very high risk for mental retardation. He was diagnosed with CHARGE Association.**UPDATE** Since Nicholas' time with us, geneticists have found a genetic mutation that has been found to cause up to 75% of all CHARGE cases diagnosed. They still are unable to explain what causes the mutation or the other 25% of cases.
We took him home when he was a month old, and spent a fairly uneventful two months at home loving him as best we could. His sisters adored him.
In early May, I took him back to Children's for his cleft lip repair surgery. The surgery went well with no surprises and no glitches. I stayed with him for several hours before going home to take my husband to work. When I got home I called the hospital to check on my buddy boy and the nurses told me that he had seized after I left and they had to re-intubate him. I rushed back to the hospital. The planned 24 hour stay after his surgery turned into almost another month.
He spent the first 2 weeks intubated, and no one knew why we couldn't successfully extubate him. They had an ENT come in and "scope" his trachea to see if they could figure it out. During the surgery, the ENT came to talk to me, as I had requested. He told me that Nick had a condition called tracheomalacia, which meant that his trachea did not have enough cartilage, and when he breathed his it started to collapse. His trachea was too swollen to get the scope down closer to his bronchi, but due to the severity in his trachea, the doctor suspected that the malacia extended down into his bronchi. He recommended a tracheostomy, which I authorized.
After the trach, Nick no longer had to be sedated all the time, as he had with the oral breathing tube. Shortly thereafter, I had a care conference with his doctor, nurse practitioner, geneticist and social worker. I wanted to know what our options were. Basically, they were to leave Nick on a ventilator and hope that he eventually outgrow it, or take him off of the ventilator and let him die on his own schedule. I called my pediatrician, who had seen tracheo/bronchomalacia before. He explained that if we left Nick on the vent, he would need to be on it 24 hours a day. We could get around the clock nursing care and keep him at home, or we could look into a long term care facility that takes infants. Tearfully, we decided to take him off of the vent. To leave him on the vent would rob him of any semblance of normal life, and would throw our twins' lives way out of whack. To leave this poor blind, deaf child in a bed on a vent would not be life - it would be surviving - and for our child, that was not enough.
On May 26, 2001 we took him off the vent. He did better than anyone expected. I stayed most of the evening with him before going home and resuming daily visits. On May 29 (I think) at about 4am the hospital called me and told me that he was blue and his oxygen saturation (O2 sats) were less than 20% (normal is 96%-100%, and I would hear later he had dropped to 0% and stayed there for a few minutes). I raced to the hospital, terrified he would be dead before I got there. He was not. Family slowly began to collect in the NICU, and a few hours later we were given a private room.
Again, he surprised everyone. One of the hospice nurses told me that she had never seen anyone in his condition live more than 24 hours. He hung in that day, all night, and the next afternoon I told hospice I wanted to take him home because he had improved so much. At home we kept him comfortable, suctioning his trach whenever it was necessary, using a mist collar to provide humidity through his trach and giving him Morphine and Ativan in increasing doses more frequently.
On June 13, in the evening, he went into a coma from lack of oxygen. Bathing his limp, unresponsive little body that night was one of the worst, most painful things I've ever had to do. He hated his bath and always struggled and fussed, no matter how recently he'd had his drugs. My mother in law came over and stayed, holding him, until almost 3am.
On June 14, at about 4pm, I started to feed him, noticed he was doing weird things, stopped the feed and picked him up. A few minutes later he stopped breathing, gasped twice, and died. My mother and my husband were both with me. Summer & Sarah were in their bedroom, trying (not) to take a nap, and we had them come out and kiss and hug him goodbye and tell him they love him. Then I took them upstairs to our neighbor's apartment because I knew people were going to start collecting.
We had Nick cremated and hospice returned his remains to us in a nice blue urn, and they brought us a plaster cast of his hand and 3 copies of his footprints with a very nice poem. We still miss him every day. He was a very snugly little guy who melted into your arms when you picked him up. Though my arms and heart ache with his absence, I know that the circumstances surrounding his birth were the true tragedy, and that for him, his death was a release to a better place.
