Day One to Diagnosis.

This blog was written by Matthew Dufffey.

Beth Moore is posting on behalf of the family.

During Labor Day weekend 2017 my  son, Rocco, was diagnosed with a rare genetic disorder called Lissencephaly. I'd like to say that it was a complete surprise but frankly his mother and I had suspected something was not quite right for months. We started our family in our 40's and were aware of the risks for all conditions being present but Lissencephaly was one that never entered our mind.  


During our prenatal care my wife was diligent in getting genetic testing and because she was an older than average mother she went to great lengths to be sure and educate herself and take care of her personal health. Jennifer had already delivered two healthy children and we felt really good when we had reached the magical 13 week mark and felt like the next big hurdle would come at delivery.  


In our ninth month, during a routine sonogram the sonographer picked up an irregularity in one of the tubes connected to Rocco's kidneys. It was a fairly common condition that is detected  at this time of the pregnancy and it was classified as moderate. It had been really the first alarming thing we'd ever been told about one of our children during pregnancy. The doctors quickly assured us that we had detected the issue early and we'd keep an eye on it from this point forward.  We were relieved that again because of being diligent in keeping these appointments we'd been able to catch a potential issue early.


When Rocco was delivered on March 1st 2017 he came cesarean just as our two previous children had been delivered and everything seemed to be quite normal again. He had all ten fingers and all ten toes, his color was good and he was beautiful. The process usually was over in about ten minutes and all the work was done behind the sheet. My job was to keep Jennifer distracted with bad jokes until all the pulling was done. Then quickly Rocco was taken from his mother and moved to a scale and bed where the doctors and nurses could monitor his oxygen levels and heart rate. As usual, the nurses bring me over to watch as the  busy themselves with massaging and stabilizing Rocco.


This time it happened a little differently. Rocco seemed to be a bluish color and the nurses seemed to be working frantically with Rocco. The were alternating using a hand held pump to push oxygen in and out of him while massaging his body vigorously.  Soon Rocco's color turned pink and the alarms on the machines began to stop one by one. I looked down to see a handsome son with fantastic red hair. We expected him to have a lot of hair as his brother and sister before him had. However this time it was a bright crimson instead of the traditional Duffey brunette. He looked magnificent.


My excitement quickly dissipated as  one by one the alarms started sounding again. The nurses again started working feverishly on him and one nurse informed me that often babies that come cesarean had a difficult time "waking up" and they would need  to be massaged awake. She said that there are fluids in the mother's birth canal that wake the baby up naturally. Rocco was groggy because of the cesarean and was having a hard time keeping his heart beating. I trusted these doctors and nurses with my son's life and I had every confidence that they knew what they were doing.  I nodded that I understood so she could continue doing her work. I knew he was in good hands that I am sure. I remained calm and watched carefully as they scrambled to stabilize his heart rate and his oxygen levels.


There was a particularly ominous clock on the scale/bed that was ticking and the nurse commented that the goal was to get Rocco's oxygen levels above ninety and that currently his levels had been below ninety for about five minutes. It was at seven minutes where they would become concerned. Finally, at the six and a half minute mark, Rocco's oxygen levels remained stable at 98.  It had appeared we dodged another bullet. Rocco's color had pinked up again and he was crying for his mother. I asked several of the doctors and nurses if they had felt Rocco had gone too long with the lower than normal oxygen levels and to a person they had replied, "his levels were within an acceptable range for the time period." Classic doctor speak and it did not put me at ease. What was most upsetting to me was that if there had been a problem it could be months or even years before we'd know.

This  was the beginning of my concerns for Rocco. I was determined to watch and observe him even more cautiously than my other children. I mentioned what I had observed to Jennifer but I didn't spend much time driving it home to her because I really didn't want her preoccupied with worry about an issue that may or may not even exist. Thankfully, Rocco immediately took to nursing and for the time being we were hopeful that again we'd been blessed with another healthy baby.


As the months went by, Rocco seemed for the most part a normal little baby boy.  His bowel movements and urinating were normal and he had a healthy appetite. His mother bonded with him quickly and he moved and wriggled just the way new babies do. There were a few things however that left me unconvinced that everything was okay with Rocky. For starters, he always seemed very restless and uncomfortable. He fussed more than our other children did and he never seemed like he could get comfortable. I tried to stay away from WebMD but eventually I looked to see if there was anything wrong with a baby constantly wiggling and moving around.  Surprisingly, the message was that there was no explanation for babies wriggling all the time. The answer was that it was perfectly normal.


This revelation helped me to relax and convinced me that I needed to stop worrying about what might be wrong with my boy and just let the cards play out. I resolved to enjoy my little guy and not worry about an issue until there was some evidence to the contrary. Rocco continued to hit his benchmarks at every doctor visit we attended and his Hydronephrosis that had been detected in the pre-birth sonograms had actually improved to the point of being almost indetectable. This was great news for us and we were really looking forward to seeing Rocco start rolling over consistently and begin sitting up. The only problems we had seen recently was that he'd had some congestion and was having some issues with constipation.


You could tell the constipation was really bothering Rocco because it would at times cause him to clench up into a crunch position and he'd grimace. Shortly the episode would go away but those types of things can become more complicated and uncomfortable if left untreated. Our doctor suggested prunes and prescribed us a laxative. He did become more regular but the pain he was experiencing persisted. My wife and I agreed he needed to get back to the doctor and maybe have some further tests done. Maybe he was clogged up inside.  We also began to consider that maybe he was experiencing some kind of seizure. He seemed to cry out at the end of these spells and then sleep like the dead for hours. The next day the episodes seemed to be happening more often so my wife insisted that I meet her at Children's Mercy in the emergency room. I agreed because I believed in my wife's intuition as a mother and a woman and I knew she needed my support and help with our other children.


We explained to admitting we thought our son might be having a seizure and they quickly moved us to the front of the line. We were seen by a doctor within fifteen minutes.  The doctor examined Rocco and asked us several questions about what we had been doing to help Rocco with his constipation. We explained to him that Rocco was taking a laxative now for a few days and that it seemed to have relieved his constipation but the pain persisted and that we even thought he might have had a seizure as a result of his constipation. The doctor's attention piqued at the sugges and he started questioning us further about our suspicions. He never once removed Rocco from his car seat but did feel around his abdomen to see if there had been any bloating or obstruction. It was his diagnosis that Rocco was a normal boy and that he was still suffering from constipation.


I was satisfied by what the doctor had to say and felt that had been the issue all along. My wife was aggravated and becoming less and less convinced that Rocco was being evaluated accurately. The next day she asked me again what I thought was wrong with Rocco and again I said I think exactly what the doctors have been saying. She became angry and said she was going back to our general practitioner the next day and that she was going to get to the bottom of things. The next day at around 4:30 pm I came home to watch our two older children while Jennifer took Rocco down to urgent care with our general practitioner. Thirty minutes later Jennifer threw the door open shouting that she had to rush to Children's Mercy because Rocco was being transported to the emergency room by ambulance. This was the only thing she said and she was out the door in a flash, screeching away in our car. Quickly, I readied our children and drove them to their grandmother's house. I then drove like a madman to meet Jennifer at the Children's Mercy on Gillham road. Rocco had been admitted and was being observed for signs of seizures.   

Once I was able to get to my wife and Rocco, she filled me in that Rocco had again been examined by our general practitioner and again she said that Rocco was a normal boy reaching his milestones. Jennifer said that she was still dissatisfied but how could she continue to argue this with the doctors. As she left the doctors office and placed Rocco in the car in his car seat his crunching and grimacing began again. She rushed him back into the office and the doctors were finally able to see what we had been seeing for a week. They hooked him up to an oxygen monitoring machine and became noticeably concerned. Rocco's oxygen levels were diving during his spells and they immediately called 911 and ordered an ambulance.

Beth Moore