December is a time for reflection. And as I look back over the past twelve months, I feel like celebrating a time unlike any other in the lives of JJ and the people who live with her disease. If I flash back to where we all began the year and then take stock of where we ended it, it feels like nothing short of a miracle.
On the home front, things were hopeful at the beginning of the year, but still very much in flux. After weeks of not wanting to eat or drink by mouth the previous fall, JJ had undergone an emergency surgery to install a feeding tube in her stomach. The tube ended up not only saving her life, but also enabling us to jump the nine-year waitlist for government support in our state. However, by January we were only beginning to understand how to navigate this new and complex web of resources.
JJ’s communication was also a work-in-progress. Because she cannot talk or use her hands, we had gotten her an eye-gaze device. Unfortunately, she was not yet interested in using it. Instead, she still resorted to screaming and biting herself whenever she was angry, in pain, or unable to transmit her thoughts and needs to the people around her.
At the start of 2023 things looked equally uncertain for the Rett Syndrome community. There were no approved treatments for the disease, and gene therapies had yet to be tested on anyone other than mice and primates. But by December, it was clear that 2023 represented a truly historic year for our community.
In March something monumental occurred: The FDA approved Daybue, the first drug available for the treatment of Rett Syndrome. The medication represents a real, tangible win for people with Rett and their loved ones and comes more than four decades after the disease was first discovered. Since this spring, thousands of girls around the country have taken steps, said words, and generally awoken to the world thanks to their new medication.
In June JJ received her first dose of Daybue. Though a bit sporadic, her progress on the drug has been encouraging. Her hand use has improved a little, as has her mobility. On a good day, she can now balance on her own for up to a minute, walk a few steps independently, and sit up by herself in bed. She has also started nodding her head yes, shaking her head no, and on occasion, saying words, like Dada, all done, yeah, bye, and hey. All of these are skills Rett Syndrome had diminished, if not stolen completely.
But JJ has not only made progress in the physical realm. Thanks to Daybue and the good nutrition provided by her feeding tube, her cognition, energy, and awareness have also improved. All of this has led to a new-found interest in her eye-gaze device. In the past twelve months she has graduated from using four icons per screen to sixty. Because she has so many words and phrases at her disposal, JJ’s world has expanded exponentially. She now uses her device to ask questions, relay emotions, play board games, tell jokes, spell out words and phrases, talk to her in-home helpers, and communicate with the students and teachers in her inclusive full-time kindergarten. She has even used her device to tell me I love you—words I had long ago resigned myself to never hearing. Most importantly, though, is the fact that JJ finally has a reliable way to put words to her physical discomfort and pain. Thanks to her device, she has been treated for everything from strep throat to ear infections without frustration, anger, or self-harm.
In addition to the commercial release of Daybue, Rett researchers also achieved another significant milestone in 2023. This June the first patient with Rett Syndrome was dosed with a gene replacement therapy. Results were so promising that another patient was dosed a few weeks later. Though both women were adults in advanced stages of the disease, they still appeared to benefit enormously from the therapy. Both saw improvement in hand function, gait and mobility, breathing, socialization, as well as a reduction in seizures. Patient 1 had not sat up on her own since infancy, but twelve weeks after being dosed, could sit for up to fifteen minutes without assistance.
Most hopeful of all, though, is the fact that this preliminary trial is just the beginning. In a separate gene therapy trial scientists have already dosed two pediatric patients with Rett. Because the children are tolerating it well, more will be dosed next year and the trial data will be made public. Many other genetic therapeutics and medications for Rett also remain in the research pipeline.
Though this year saw these gains and milestones, our community still experienced setbacks and worked hard to earn every bit of progress we made in the past twelve months. When it comes to the gene therapy trial and Daybue, an untold amount of energy was expended by researchers, fundraisers, patients, and their loved ones. All of these people persisted in their efforts despite the grief and profound losses Rett continues to exact. Even during this year of hope, the disease took many of our girls—including seven-year-old Korrie, who was diagnosed at the same time as Josephine, and Emily, whose eye-gaze artwork inspired so many.
JJ’s physical and intellectual achievements also didn’t happen on their own. In our family we spent countless hours doing things like attending speech therapy sessions, fighting insurance denials, preparing medications, and blending up foods for the feeding tube. Perhaps the most difficult work of the year, though, was learning how to mitigate the significant side effects caused by Daybue. Before we finally found the right combination of medications to help JJ feel better, she spent several months feeling nauseous and vomiting every day.
Last December I wrote a post about what it feels like to wait for a cure for Rett Syndrome. In it, I remarked upon the cyclical nature of hope. To me, it feels less like hope is a thing that we possess and more like a place we visit off and on throughout our lives. This year has showed me that while returning to this place requires some luck, that’s certainly not all that’s required. In addition, we need a good amount of energy and persistence, as well as a willingness to grind away at things tirelessly until they improve.
In short, hope requires a tremendous amount of work.
In my daughter’s case, I’m not just talking about the work put in by JJ and our family. I also mean the work put in by so many of the other people in our lives. Helpers. Therapists. Teachers. Neighbors. Friends. Support group members. Fellow writers. Everyone who has donated to advance Rett Syndrome research, followed JJ’s story, or read my writing. Each and every one of these people has helped my family do something we never could have done on our own—fight our way back to a place filled with hope not only for JJ, but for everyone battling her disease.
If you would like to donate in JJ’s honor to the International Rett Syndrome Foundation (the organization that helped make Daybue possible), click here.