Hope Is a Battlefield: The Year in Review

*Note: If you would like to donate to Rett Syndrome gene therapy research in honor of JJ this holiday season, please click here.

It has become a December tradition for me to post about what the past year has brought for my family and to explore the topic of hope. I find that every year I spend with my daughter, JJ, teaches me a little bit more about what it means to live a life with and without hope in it.

Rett Syndrome and hope are certainly not synonymous. My six-year-old daughter’s disease is volatile, unpredictable, and often unforgiving. Symptoms usually appear during an initial regression period during which many essential skills and abilities are lost. Before JJ underwent her regression at the age of two, she could feed herself and say several words and phrases. A year later, she had lost the use of her hands and almost all verbal ability. Throughout this stage of the disease many children with Rett also scream uncontrollably, cry inconsolably, and hurt themselves. JJ spent the twelve months of her regression screaming and biting herself while we restrained her. At the age of three-and-a-half, she lost even more. She underwent what her neurologist calls a “mini” regression during which she also lost her ability to walk independently.

Still, Rett is not done with her. Although her syndrome can take away skills at any time, puberty—a stage JJ will reach in a few years—can be particularly rough. As they enter adolescence, many children with Rett develop scoliosis, experience an increase in seizures, and develop an overall stiffening of their muscles. I pray every day these things will not happen to JJ.

Sometimes I find the ups and downs of life with Rett Syndrome to be particularly depressing. But a few months ago, as I was complaining about this to my husband, he said something that turned my world on its axis. “Of course, it’s difficult,” he told me. “It’s not like anyone has ever beat Rett Syndrome.”

Up until that moment, I had been thinking about life with an unpredictable, progressive disease as a roller coaster—something over which I have little or no control. But picturing myself locked in a battle actually felt empowering. Rett parents often call their children “Rett warriors,” but really, my husband and I are engaged in a war that encompasses our entire constellation of friends, family, and loved ones. None of us is engaged in a fair fight, but at least as warriors we have agency. Every medicine we try, every therapy session we attend, every piece of equipment we acquire, every ache we soothe can feel like a battle won.

Despite JJ’s rocky past and uncertain future, I am thankful that the past twelve months have been filled with many victories. My daughter now has a set of first-grade friends who jam along to music with her at recess, a new iPad with eye tracking technology, two newly-hired in-home carers she already loves dearly, and a van with a wheelchair lift that makes it easier than ever to transport her. JJ can also take a few steps independently, sit up on her own, and sometimes has the strength and endurance to walk to a nearby park. She uses her eye-gaze device to read books, spell out words, learn German, play board games with friends, tell jokes, play tricks, and express her (very strong) personality. This year she even used her device to write a poem that will be published in a national poetry anthology.

Most of this year’s wonderful progress happened thanks to a mixture of intensive therapy, hard work, and a newly-approved medication called Daybue. For years, Rett families have worked together to raise funds for things like Daybue, but this treatment is only the beginning. In 2024 our community also witnessed an explosion of gene therapy clinical trials. As patients with Rett have been successfully dosed, researchers have expanded the trials, dosing younger and younger patients at higher and higher levels. With the exception of one sobering adverse event, this year's initial data has been extremely promising. A year after dosing, a four-year-old with Rett with no hand use now holds her own juice box and taps a tablet to watch videos. A seven-year-old who drank thickened liquids and was spoon fed pureed food now feeds herself apple slices and drinks regular water.

In the past, I have written about how I see hope both as a place we visit and as a series of actions requiring hard work. This year I have been thinking about how this hard work is something we tackle with ferocity and determination, day after endless day, battle after endless battle.

Thanks to the successful gene therapy data, hope feels within reach, which means that parents like me need to fight harder than ever before. For most of us, our war is one with a ticking clock. We are trying to outrun a progressive disease that continues to take children from their parents with terrifying consistency. Unfortunately, this year was particularly difficult in that regard. Many young adults and children we are connected to in the Rett community passed away from complications of their disease. Some of them were as young or younger than JJ. Very sadly, one girl in the high dose cohort of the gene therapy trial had an rare adverse reaction and also passed away. (The company has since discontinued high dose exploration because a low dose appears to be safe and effective). The entire Rett community was devastated by this loss. The battle for a cure is literally one of life and death, filled with brave families like this one, as well as unimaginable struggles.

My wish this December is that the coming years bring JJ as much joy and as many pain-free days as this one did. But even if the time comes when we lose our daughter in one of our battles against her disease, my greatest hope is that I can still play a small part in eventually winning this war. Because a world without Rett Syndrome and the suffering it brings is a worthy goal. If you would like to help us progress towards reaching it, please donate to further Rett Syndrome research in JJ’s honor.