It started off like every other “normal” pregnancy.But at each ultrasound the sonographers would mention the baby was transverse position and they could not get accurate reads on the brain. We dismissed it, figuring I’m just a hard scan from three previous c-sections.
At 32 weeks, they sent us for a fetal MRI. After, they pulled us into a room. Quietly they pulled out a sculpture of a brain. My husband and I clutched each others hand. The doctor wrote out a word 22 letter word on a piece of paper. RHOMBENCEPHALOSYNAPSIS.
It was explained that she had no center to her cerebellum (vermis). That it is incredibly rare. Approximately 200 cases documented. And the most unsettling news yet- they didn’t know what it would mean. She has enlarged ventricles in her brain so she may or may not need a shunt upon delivery. She may or may not walk. Chances of Autism and sensory disorders are incredibly high. Expect trunkal ataxia, that is, if she is even mobile. Eye abnormalities such as Strabismus are common. Prepare for hypotonia- low muscle tone.They looked at us with the lingering question- what do you want to do? As if you have any other choice than to adapt to whatever is inevitably being thrown your way? I LOVE this little one, and we haven’t even met yet. They sent us on our way with one small packet of reading material for our three hour drive about a very small case study and the minimal information on this diagnosis that has been collected to date. I cried the whole ride home.
Scarlette Ember was born March 3. She has taught me so much more I needed to know about life . Everyone’s “normal” is different. Scarlette’s is RS- shortened long bones (femurs), Strasbismus, a murmur and acid reflux. We manage! We thickened feeds and switched formulas- but we got there. We have her eye surgery this week to correct the misalignment of the optic nerve. We see OT and PT weekly because balance is hard! But she is rolling over and transferring objects. We celebrate these things and continue to work toward sitting unsupported and crawling. The diagnosis stage was scary. But life with our little RS girl is not. It’s busy, it’s loving but it’s “normal.”