Why the long name?

I guess I should start off my writing why I am bothering with a blog about a completely obscure diagnosis. While taking my daughters for a walk today I thought about all the internet searches I have run over the past day and a half. How little information my scouring yielded. No blogs. No forums. No support groups. No nothing. If you have a kid with Rhombencephalosynapsis (RA) than you are destined to read and reread the same few studies over and over to try to extract some semblance of usable information.

So I decided why the heck not blog about it. Maybe some other Mom out there will hear this scary name in reference to their child someday and they might find me. Who knows???

So here's a quick synopsis of our tale.

When I was 17 weeks pregnant with my twins I wad told that something was wrong. Words like aqueductal stenosis, ventriculomegaly, hydrocephalus and possible fetal demise swirled in my head for weeks on end. I had a long and troubling pregnancy but the anomalies in Abby's brain seemed to remit somewhat over time. After birth my twins spent a short time in the NICU and were given a clean bill of health. Brains looked good, babies looked good. Until Abby started quickly missing every milestone. It was at that point that we started PT and went looking for answers. The first place I decided to look was at the best childrens hospital in the country and likely the world. I found a neurosurgeon and a neurologist and they agreed to see Abby immediately. A CT scan led to an MRI scan and the MRI scan showed marked structural abnormalities in her brain. From her corpus callosum being thin and malformed to her frontal lobe having too much fluid. Her ventricles were enlarged and something was not right with her cerebellum. The neurologist assured us that she was doing great given her abnormalities and that we should keep up the PT and eventually OT.

Meanwhile she needed surgery to correct strabismus (crossing of her eyes due to weak eye muscles). The surgery was hell on Brian and I (watching her go through it wasn't easy) but she rebounded quickly. We kept plodding along with our host of specialists (I think at one point we had 8 active specialists and docs), therapists and the prayers of friends and family. She did well. She learned to sit, roll over, pull herself up to stand... but all months later than her sister.

When she was able to pull herself up to stand I suggested to our PT that we think about getting her a walker. Not a baby walker but a "therapuetic" walker. Yemi loved the idea and we quickly ordered it. It was a GODSEND! She could use the walker to walk around with her sister. Seeing the both on their feet was amazing.

Throughout all of this we still had the underlying uneasiness. What did the future hold? Would she be normal? Would she learn and grow and thrive?

The neurologist pushed us to see the neurogenetics team at CHOP to try to get some answers. I was a little hesitant to put her through more docs and more tests but I agreed. After a 6 month wait we finally had our appointment with Dr. Bonnemann (a world renowned neuro-geneticist). You could tell upon meeting him that he is intelectually gifted beyond anyone I have ever met. He asked a million questions and told us she needed a 3 tesla (higher powered) MRI right away. After some fighting with our insurance we had the MRI at CHOP.

That's when we got this diagnosis. I never expected something so rare and unknown. I figured it would be a genetic mutation that they knew plenty about. Instead I had to chew on one of the longest words I have ever learned... Rhombencephalosynapsis (RS). It meant her cerebellum was fused at the midline. In the world there are something like only 40 confirmed cases. So while we got a diagnosis we got little answers.

She has many of the hallmarks; strabismus, ventriculomegaly, corpus callosum issues, ataxia, poor motor tone and strength and on and on. It isn't treatable. It isn't curable. And supposedly it isn't even genetically caused. So we're not sure what this means for Abby but hopefully as more hospitals get better MRI machines more cases of RS will be identified and the body of literature will grow and grow.