Before I had JJ, I never thought much about hope—at least not in any profound way. To me, it was just another verb to slip into conversation. I hope we don’t get any rain tonight. She’s hoping for an A on the test. Hope you have a great holiday. It was only when life began to throw painful twists and turns at my youngest daughter that I began to examine what it means for someone to have hope…or to be without it.
At the age of two, JJ began biting herself and throwing screaming tantrums that lasted for hours. Then came a misdiagnosis of autism. Brain surgery. Seizures. Vision impairment. Loss of hand use. And, finally, the day it felt as though our world had drained of color. A doctor spoke out loud two words that explained everything our daughter had been through.
For a few dark months, it felt as though hope was lost to us completely. But the more I processed the diagnosis, the more I realized I had been thinking about the concept all wrong. Hope is not something to be grasped or held onto. I really don’t think it’s a thing at all. Instead, I see it more as a state of mind—somewhere we arrive at, a place we exist in. But it's not a place where anyone can stay forever. We all weave in and out of it at different points in our lives.
For my family, this journey is often as unexpected as it is devastating. Our daughter has gained and lost the ability to walk several times over. JJ has giggled for days on end, only to stop laughing for months at a time. She has been wracked by daily seizures until the right medication finally quieted her brain. I have had to teach her how to chew and swallow more than once. My husband and I both know what it feels like to move in and out of hope, over and over and over again.
Part of what makes this cycle particularly painful is the vast span of possible outcomes for our daughter. People with her disease juggle a multitude of painful symptoms throughout their shortened life span. Because the syndrome is progressive, those who have it lose many skills as they age. About a quarter die a sudden, unexplained death—sometimes while still quite young.
But now there is another, more positive outcome that might come to pass in my daughter’s lifetime. Thanks to rapidly evolving research, a genetic cure hovers on the horizon. Rett Syndrome is caused by a mutation in a single gene, and that gene has been located. With the help of gene therapy, many symptoms of the disease have been reversed in mouse models. The syndrome is also not neurodegenerative, so those who have it don’t lose brain cells over time. This means that when a gene therapy becomes available, it could be quite beneficial.
The research on my daughter’s disease is picking up speed every day. The Rett Syndrome Research Trust, a non-profit organization founded by a Rett mother, is helping to advance research on six genetic therapeutics for Rett Syndrome. Eight academic labs and seven biopharmaceutical companies have gene therapy programs targeting Rett Syndrome in their research pipeline. In 2022, Taysha Gene Therapies began a gene replacement trial. This will mark the first time researchers test a gene therapy for Rett Syndrome in human subjects.
My husband and I truly believe that some type of genetic therapeutic will become available for our daughter in the next decade. Unfortunately, for her, it will probably be less of a true “cure” than it will be for younger girls or babies in utero. However, it could still improve her symptoms dramatically and give her a quality of life we couldn’t otherwise imagine.
On my darker days with JJ, there are still a few things that keep me going. The possibility of a gene therapy for Rett Syndrome is one of them. Knowing there are scientists, researchers, academic labs, and biopharma companies working to fix my daughter’s mutated gene is extremely comforting. Even if JJ doesn’t benefit fully from a cure or even survive long enough to see it come to fruition, there is still hope. A world in which her disease no longer ruins lives and robs children of their futures is one in which I long to live.
The other thing that keeps me going as I claw my way back to hope, time after time, is you: my friends, family, and readers of my blog. No matter what happens in the world of research and Rett Syndrome, JJ has her fan club—people who care enough to read about her life, learn about her disease, and offer us their support.
Despite her uncooperative body, my daughter is her own complete person. She laughs while trick or treating as a cowgirl and giggles while riding with friends in her adaptive car. She rides the bus to preschool, where she does adaptive art projects, listens to story time, and learns to communicate using her eye-gaze device. She loves being tickled by her older sister. She enjoys listening to stories about princesses and fairies. She can’t wait to start kindergarten.
But though JJ is her own beautiful self, she is still in the grip of a powerful disease. As her mother, there are so many things I wish for her. I wish she were stronger than Rett Syndrome. I wish she could tell me all the thoughts, hopes, and dreams locked up inside her. I wish I knew what she could accomplish if her brain could control her body’s movements.
But I can do none of these things. This is the raw, hard, messy truth for all Rett families. We can fight our child’s disease, but we cannot truly beat it. Only science can do that.
The good news is that parents aren’t powerless. As we wait for a cure for our children, we can raise money for research. We can volunteer for studies. We can find comfort in friends and family. As I wait for science to discover a safe and effective way to repair my daughter’s gene, I am doing all of this.
JJ might have a wide variety of people rooting for her, but we all have one thing in common: We desperately want her to succeed. We want to believe that the ending Rett Syndrome has scripted for her life’s story can be revised and rewritten.
Let’s hope we’re right.
Click here if you would like to donate in JJ's honor to find a cure for Rett Syndrome.