I spent last Wednesday morning attending a conference on Rett Syndrome at Einstein. Let me start this blog by saying that Rett Syndrome is not a “Jewish genetic disease.” In brief, it is a neuro-developmental disorder that primarily affects girls, in which they start to develop normally but then lose motor functions and also develop seizures, cognitive disability, and a host of other symptoms (learn more about Rett Syndrome here). Rett Syndrome is caused by mutations in the MECP2 gene which is located on the X chromosome. A friend of mine asked me what prompted me to attend this specific conference, given my current focus on Jewish genetics. I told him that I love to learn, I was impressed by the lineup of clinical and scientific expert speakers, and I knew that a lot of the Einstein genetics people would be in the room. In the end, these factors paled in comparison to what left the biggest impression on me that day—the presentation by Monica Coenraads, whose teenage daughter Chelsea is affected by Rett Syndrome.
Monica began her presentation by showing home-video footage of Chelsea’s first four years. During the first year, there were the typical clips of first smiles, first solid foods, first rolling over. After that…the realization that milestones were not being met, Chelsea’s developmental regression, the search for a diagnosis, the fear of that diagnosis, and then the adjustment to living with the diagnosis. Monica’s presentation continued with an eloquent overview of the syndrome, in which she interposed videos of Chelsea manifesting many of the symptoms. She also showed Chelsea’s educational and therapeutic support teams, and a massive amount of Chelsea’s specialized equipment and furniture. It was clear that Monica has not left one stone unturned in her care and support of Chelsea, in the context of her entire family (and she even brought the whole audience to tears as she described how Chelsea was able to express, with the help of a communication device, that she wanted to attend a prom and then was able to do so escorted by her brother). On top of all this, Monica has made a huge impact on the global Rett syndrome scene, in part by establishing two foundations that fund research for Rett syndrome treatments and cures.
Several of the scientists who presented at the conference specified that Monica Coenraads motivates them in their research endeavors and prompts them to push their creative limits further. From the brief encounter I had with Monica (i.e., watching her powerpoint presentation in a dark auditorium), I see Monica as a source of light. Monica and other parents of children with disabilities and genetic diseases restructure their expectations, perspectives, and daily lives because of these children. Sometimes it takes people like Monica to help us parents re-calibrate with respect to what think we can/cannot handle and also re-invigorate for new undertakings.
May the spirit of Chanukah give strength to parents and caregivers like Monica, as well as shed light upon research efforts aimed at finding cures.