The answers we were searching for came a few months later. The insurance company generously provided complimentary testing for my husband and I to check for the same abnormality. While Dave got tested right away, I procrastinated. I made up excuses for not getting my blood drawn – I didn’t want it to be my fault. Turns out it was neither of ours fault – Vivian’s partial chromosome deletion was new. The chances of this are .0001%, we were told.
Although Vivian had not, and has not, been officially diagnosed with Marfan syndrome, her doctors were taking precautions. She had an echocardiogram to check for an enlarged aortic root. Hers was on the high side of normal and she had a slight mitral valve prolapse. She also had an eye exam to check for any defects with her lenses or signs of retinal detachment, which returned negative.
Another thing the doctors at Hopkins wanted to find out was why she was globally developmentally delayed. This called for an MRI. We got her cleared for anesthesia and had the appointment scheduled. I myself have never been put under, so I wasn’t sure what to expect. We were able to go back with her at first. The anesthesiologist stated that her eyes would probably roll back in her head and this was normal. Normal? Not when it’s your little baby on a big table, wired up to machines with a mask full of gas about to go over her face. When her eyes rolled back as she drifted off to sleep, I lost it. I had no control and felt completely helpless. At least I knew she was in good hands.
Dave and I stayed in the waiting room for about an hour, while the MRI was performed. We played on our phones, got a snack and tried not to think about what was happening to Vivian. We were then called back to recovery, which took a while – she didn’t want to drink or eat anything, but that wasn’t much out of the norm. Sleepily, our little family then headed home and resumed life as normal, waiting on the results.
A few weeks later I got the phone call. I happened to be in the middle of a workshop, hours away from home. I wrote down the main points on hotel stationery and tried to absorb and understand what the genetics counselor was telling me. Vivian had incomplete myelination. Myelin is a sheet of fat, with very high cholesterol content. On an MRI it shows up as white matter. Myelin wraps tightly around axons, speeding messages through the brain by insulating these neural “wire” connections. There are gaps in the path that her cells fire on. She explained that this was in line with her developmental delays and it was not significant enough to follow up with a neurologist. A follow up MRI would be performed in a year to determine the progress.
This didn’t particularly clear things up for me. Naturally, I turned to google. Still fuzzy. My husband googled the wrong kind of myelination and was concerned with mental retardation. No, no, it is incomplete, not delayed. “Don’t worry about that” I told him. We took the counselor’s word and didn’t schedule a follow up, as none was recommended. This was in July 2011. May 2012 I talked to our original genetics counselor, who had been on maternity leave for a while (and when we got the results). I explained that we still didn’t completely understand and that it was a huge concern for us, as she was a year or more behind her cognitive development goals for her age. An appointment was scheduled for July 17 with a Pediatric Neurologist.