This was our second pregnancy. It was a BOY! All was going according to plan. The 21-week ultrasound was scheduled and Karen went in very confident all was going to be okay. Turns out, it wasn't. Leo was presenting with an echogenic bowel. This could mean a variety of different things, but the main concern was Down Syndrome or Cystic Fibrosis, or it could just be the baby swallowed some blood and it would eventually just go away, which it did.
Congenital cytomegalovirus wasn't on our radar or even mentioned. Karen was monitored very closely for the baby's development and growth for the duration of the pregnancy, seen by a genetic counselor, and reassured all was going to be okay, but along the same vein, they couldn't be certain as to what the end result of the echogenic bowel could be.
Leo was measuring very small throughout the pregnancy. At birth, he weighed 5lbs 5oz, failed his newborn hearing screen, but was otherwise healthy. Karen had a c-section and was in the hospital for the routine four-day stint. We went home and all was fine and perfect until Leo hit six months. He still wasn't sitting up, wasn’t eating baby food and wasn’t grasping. At nine months he finally sat up, but was still falling over.
Leo never crawled and his head control was always poor. At Leo's one-year well visit, we questioned the pediatrician about all of these milestones and why things weren't happening according to the statistics. The pediatrician recommended Leo be evaluated for early intervention at that point. Leo qualified for all aspects of early intervention, PT, OT, SPL and SI.
Fast-forward to January of 2016, we were still convinced something more was going on with Leo. He didn’t have any words and was not walking – he was 20 months at this point. He was evaluated by a neuropsychologist and diagnosed with autism spectrum disorder (ASD). We were shocked that this was the diagnosis. We continued searching for answers since we knew ASD was not the ultimate diagnosis for Leo.
We had Leo re-evaluated in March of 2016 by a pediatric developmental doctor and psychologist, and these doctors concurred with the diagnosis of ASD, and in addition, said he had possible cerebral palsy possibly due to a stroke in utero and/or leukodystrophy. All of the above were wrong. We had an MRI performed which confirmed both cerebral palsy and the stroke in utero were incorrect. In addition, we had blood tests to confirm leukodystophy was, in fact, a false observation by these doctors. But we still did not have answers.
We had Leo's eyes checked in February of 2016 and the doctor prescribed an extremely strong prescription. We had him re-evaluated in July 2016 to a different ophthalmologist who found a retinal scar on his right eye; he prescribed a much lesser strength prescription. The ophthalmologist suggested we get Leo tested for a TORCH titers test. The geneticist we were consulting at the time had a "red flag" moment when we informed her that Leo has a retinal scar on his right eye. She went back to test Leo's dried blood spot from 2014 and it showed up positive for cCMV, and a urine sample showed he was still shedding the virus two years later.
This is where our journey began with cCMV, two years later. All of our questions were answered, and while this didn’t change the situation, we had a clear-cut reason as to why Leo's developmental delays were happening, and it all made sense.
Since that diagnosis over two years ago, we have become close to the cCMV community, primarily through The National CMV Foundation. Zack is now on the Board of Directors and Karen serves on the Development Committee. And while every cCMV case is unique, our situation is particularly frustrating that it took almost two years to diagnose, one of the longest we have encountered among the community.
There is a severe lack of awareness of cCMV in the United States and NYC is no exception. It is ironic that a city with cutting-edge technology and some of the most respected professionals across industries, medical included, fumbled this diagnosis time and time again with Leo. For the city that never sleeps, it sure is sleeping on cCMV. Let’s start to change that.
- Shared by his father, Zack
Posted: 12/14/2018 3:00:43 PM