formats

After our initial Ventriculomegaly diagnosis which you can read more about here, we had to wait two weeks before we could have a repeat ultrasound. We also were finally able to get approved for the Harmony Test at that same visit, which meant we were waiting for results of the blood work while ticking off the days.

I think I found the end of Google. I read all the medical papers and abstracts I could get my hands on. I searched Down Syndrome and Ventriculomegaly, I searched for Ventriculomegaly and prognosis, I viewed Google images looking for ultrasound images that resembled mine. I was attempting to control the uncontrollable. I realized I was pretty confident I could handle ANY diagnosis as the cause of the ventriculomegaly – I just wanted to know. I also looked at pictures of babies with hydrocephalus, researched shunts, and attempted to prepare myself for any scenario.

I don’t know if this is the ‘right’ way, per se, to handle information like this, but it was my way.

10 agonizing days later – “your Harmony Test results showed a ‘low risk’ for Trisomy 13, 18, & 21″

Ok. Thanks. See you Friday.

Friday came with a certain measure of peace. I can only say this was likely due to all of our friends and family praying for my sanity. Once again, I went alone – my poor husband watching our other kiddos.  I knew immediately that the problem had not “gone away” as I had been praying for. The two large black blobs were staring defiantly back at me. More measurements. More show and tell. The tech was super sweet, and I think because she pitied me, she flipped on the 3D transducer. I’ve never had a 3D ultrasound before. Amazing. I think seeing him gave me some relief. He looked…perfect. And beautiful. And just like his dad. Melt. (For some reason I can’t upload images at the moment, but when I can – I will)

Excruciating wait. Doctor comes in. “My tech is getting measurements of 13 – 13.5mm, so I would consider this stable.”

Stable. Ok. Could be worse.

So in short, we went from 12-12.5mm to 13-13.5mm in two weeks time.

“Also, I am unable to visualize the Corpus Callosum (say what?), and then see how the ventricles are shaped with the widest part farther away from the Choroid Plexus? (um… I guess so?) This is typical in Agenesis of the Corpus Callosum, so I think the next step is to get you scheduled for a Fetal MRI with the CNS Specialist. From there we will consult with the Pediatric Neurosurgeons, and the Neonatal team to discuss what might happen at delivery.”

SO MANY ACRONYMS!! I think most everyone knows what an MRI is, and a CNS specialist is a radiographer who specializes in the Central Nervous System. To accomplish this task, I will have to go down to Children’s Health Care of Atlanta Egleston Campus where Emory has a joint partnership for this type of MRI.  And what the heck is a Corpus Callosum?? I’m not even thinking about the consults with the Neuro and Neonatal teams yet because their involvement and at what level will be determined by the MRI results.

From Wikipedia:

Agenesis of the corpus callosum (ACC) is a rare congenital disorder in which the corpus callosum is partially or completely absent. ACC is usually diagnosed within the first two years of life and may manifest as a severe syndrome in infancy or childhood, as a milder condition in young adults, or as an asymptomatic incidental finding. Initial symptoms of ACC usually include seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking. Other possible symptoms may include impairments in mental and physical development, hand-eye coordination, and visual and auditory memory. Hydrocephaly may also occur. In mild cases, symptoms such as seizures, repetitive speech, or headaches may not appear for years.

ACC is usually non-fatal. Treatment usually involves management of symptoms, such as hydrocephaly and seizures, if they occur. Although many children with the disorder will lead normal lives and have average intelligence, careful neuropsychological testing reveals subtle differences in higher cortical function compared to individuals of the same age and education without ACC. Children with ACC accompanied by developmental delay and/or seizure disorders should be screened for metabolic disorders.[3]

In addition to agenesis of the corpus callosum, similar conditions are hypogenesis (partial formation), dysgenesis (malformed), and hypoplasia (underdevelopment, including too thin).

Recent studies have also linked possible correlations between corpus callosum malformation and autism spectrum disorders (ASD).[4]

Kim Peek, a savant and the inspiration behind the movie Rain Man, was found with agenesis of the corpus callosum.

And, there you go.

So that’s where we are right now. I’m just waiting on Egleston or my specialists at Northside Perinatal Group to let me know when I will be shoved into a loud tube. A shout out to Dr. Lopez-Zeno. Should you ever find yourself in need of a Perinatologist, I can’t recommend him enough. His calm, optimistic, no nonsense, thorough approach, is just what this mama has needed. I think he thinks I’m smarter than I actually “might” be, but I appreciate that he doesn’t talk down or simply to me. He gives me information and lets me run with it, available to answer any questions that I have.