For example, most families report that their children with C.S. are always happy and never angry (this happy demeanor is a feature of Christianson syndrome that is shared with another condition called Angelman syndrome). Spontaneous laughter and nonstop smiles are common.

The 12 families at this month’s conference had come from points as far away as the western coast of Canada and the southwestern edge of South America. They were joined by scientists who are researching C.S., including Dr. Eric Morrow, a Warren Alpert Medical School physician-scientist who has committed much of his research career to studying the biomedical aspects of C.S.

Danielle Tortolano, the mother who had so eagerly related to Peyton’s antics, had traveled to the conference from Vancouver with her parents and 7-year-old son, Sean, who was diagnosed with C.S. in 2019.

“The photos of Peyton as a newborn — they looked just like Sean!” Tortolano said to McMahon. “And when you talked about Peyton getting into weird situations — Sean is the same way.” Tortolano took a shaky breath. “I feel so validated. It’s just so great to be here.”

“She felt the way I did at my first meeting,” McMahon said, smiling.

Another parent who could relate to McMahon’s talk: Machteld de Hon from the Netherlands. She had come to the conference with her husband, two daughters and 11-year-old son, Bolu, who has C.S. While Bolu uses a wheelchair, he, like other children with C.S., can be extremely active and has trouble settling down at night to sleep. de Hon was especially struck by McMahon’s recommendation of a bed for children with cognitive disorders, designed for safety and security with padded walls and high rails.

Overcome with emotion, de Hon said, “We have that bed.” She talked about how parents of neurologically typical children might see the bed as a punishment, while for her family, it’s a gift. “We put [our son] in there, with toys, and he goes to sleep. He sleeps. He gets the rest he needs. And I can cook, I can get things done. Thank you so much for putting that picture up. Thank you.”

This exchange of support and solidarity among caregivers is what the conference is all about, said Debbie Nash, founder of the Christianson Syndrome Association. Nash founded the organization in honor of her son, who was diagnosed with C.S. in 2010, a time when little was known about the disorder.

“For new people attending the conference for the first time, it can be life-changing,” Nash said. “For returning families, it can feel like coming home.”

The first conference, also organized by Nash and Morrow, took place at Brown University in 2013, and was a more informal meeting. Since then, the conference has been held approximately every two years – in sites across the United States, in Canada and in the Netherlands. This was the first year the conference had returned to Providence since 2013 – “The boys are back at Brown!” sang Nash while welcoming families both familiar and new. Funding for this year’s conference was provided by the Christianson Syndrome Association, the Brown University Center for Translational Neuroscience, RLG International and the Roger Williams Park Zoo.

One aspect of C.S. that Morrow’s team is actively researching is a pattern of regression when people with the disorder reach their twenties and thirties. This has been backed up by data from Morrow’s lab: Year to year, they see a slow loss of motor skills beginning late in the second decade of life.

The conference has expanded to include scientists from institutions around the world. Among the talks included at this year’s event were presentations by: Tracy Young-Pearse, Dr. Sabina Berretta, and Dr. Christelle Achkar from Harvard Medical School; Dr. Paul Caruso, chief of pediatric neuroimaging at Lenox Hill Radiology; Joe Katakowski, director of the RTW Charitable Foundation Research Institute, a nonprofit that develops drug therapies for rare diseases. From Brown University and the Alpert Medical School, talks were given by Morrow as well as Li Ma, Qing Ouyang and Brian Kavanaugh. Topics ranged from current ideas about the cellular causes of C.S. to an explanation of a new clinical study on female carriers of C.S. mutations to the latest news about epilepsy, MRI brain imaging and potential gene therapies. There were more personal sessions, including one led by a counsellor on mental health strategies for caregivers, as well as a session for siblings of affected children.

The Brown team was conducting ongoing research with some of the families, contributed to by associate professor Dr. Judy Liu, a physician-scientist and neurologist expert in epilepsy and associate director of the CTN. Busy conferences such as these offer an excellent opportunity for in-person assessments, Liu said, which have been nearly impossible to perform during the COVID pandemic.

Nash said she hopes that meeting in-person helps people feel not only like they aren’t alone in their struggle of helping a child with C.S., but also that they’re a part of the solution.

“Everybody needs to feel that they’re a part of expanding the awareness, the education and the research,” Nash said. “Whether you are a doctor, a volunteer or a family member, we all have a part to play. If we want to get results — if we want treatments to help our kids — we need everyone doing as much as they can.”

Collaborative research

Among the most important actions families can take, Nash emphasized, is to participate in research. Morrow, a Brown professor of brain science and the director for the Center for Translational Neuroscience, a collaboration between the University’s Carney Institute for Brain Science and the Warren Alpert Medical School, is running several studies with the ultimate goal of developing medicine and better biomedical treatments for people with C.S.

As part of a longitudinal study, families share health information such as MRI scans and samples of blood, DNA and saliva. The research team collecting information from participants annually, then analyzes the data.

In his presentation, Morrow showed how these findings, while discouraging news for parents of young adults with C.S., may inform the development of future treatments. Right now, he said his group is paying special attention to the cerebellum, which is the part of the brain responsible for motor skills. Studies show that there is a loss of tissue in the cerebellum in people with C.S.

“If we can understand the underlying biology of what causes this slow regression, we believe there is time to prevent the loss,” Morrow told the parents. “We’re thinking about strategies to treat the cerebellum to prevent the biological changes that are causing people to lose motor abilities in their twenties.”

Morrow’s published findings have included tracing the genetic origins of a previously uncharacterized brain disorder, establishing diagnostic criteria for Christianson syndrome and showing how a genetic mutation in the C.S. gene can hinder the proper growth and connectivity of brain cells in mice. His team has also recently published a paper showing that gene replacement in neurons, derived from stem cells generated from patients, can treat those neurons in the lab, which represents an early proof-of-principal experiment for future gene therapies.

Research like this is only made possible by the families, Morrow said: “We can’t do this without their participation.” He reiterated something that Nash had told the group earlier, a refrain she likes to repeat, that “research equals hope.” However, Morrow said, it’s important to temper that hope with realism and recognize that science sometimes moves slowly. Even if the research doesn’t immediately help a family with C.S., he said, it may be able to change the journey for children diagnosed with the syndrome in the future.

Deborah Lemery from upstate New York has three sons with Christianson syndrome (in addition to two neurotypical children). They’re 20, 26 and 30, and she’s been bringing them to the CSA conferences for years, during which they participate in Morrow’s studies. Lemery said that no one in her family minds being “poked and prodded” — on the contrary, she’s grateful for the researchers’ devotion to the cause. She appreciates that Morrow’s team takes the time to understand the nature of her sons’ condition and how it’s changing over time.

Lemery said she also appreciates Morrow’s personal commitment to families caring for children with C.S. Earlier this year, one of her sons had a life-threatening health crisis that confounded local physicians, whose expertise didn’t include C.S. Frantic, Lemery looked up Morrow’s email, which she had on her phone, and shared it with the doctor.

“If he couldn’t help [my son], he would at least be the conduit to get the doctor the help he needed to make the right medical decision for a patient in crisis and a frantic mother,” Lemery said.

She was right. Morrow, one of the world’s leading researchers of C.S., was able to share information with the local doctors, who then drew upon their own specialties. The crisis abated, her son recovered, and Lemery was able to bring all three sons with her to Rhode Island for the conference. During the conference, Lemery rose from her seat to thank Morrow in front of all the other families and scientists.

“I’m so grateful for your help,” she told him. “You are our rock star.”

Managing each day, planning for the future

On the last day of the conference, after two afternoons spent listening to research updates from scientists as well as learning how data from their children could be used in studies of C.S., families were invited to tour Morrow’s laboratory and the Center for Translational Neuroscience in a building in Providence’s Jewelry District, around the corner from the Warren Alpert Medical School. In the lab, which was brimming with high-tech equipment, families viewed several different examples of advanced imaging tools and marveled at brain scans from humans and mice.

Hasib Riaz, a Ph.D. student in Brown’s molecular biology, cell biology and biochemistry graduate program, led a tour group by a powerful deep freezer used to store biomedical samples. This got the group talking. Morrow had shared information about a brain banking study he was leading that involved analyzing brain tissue samples from deceased people with C.S.. The parents had questions about transporting brains, about the temperature necessary to preserve a brain, about the maximum amount of time between autopsy and freezing. Those who lived in other countries were concerned about logistics — if something happened to their child, would they be able to share their child’s brain in time for the researchers to learn from it?

Riaz deftly addressed their questions, assuring the group that transporting brain tissue for research was a common practice, and that the freezers were made for this type of storage.

The syndrome is believed to shorten life expectancy, but by how much is unknown. The C.S.-affected children of the parents in this tour group were barely into double digits, and already their parents felt like they should be thinking ahead.

“I wouldn’t even consider not donating my son’s brain to the study,” said Tortolano of her 7-year-old. “Especially if I thought it could help other families with C.S., and if it could help someone else so that they don’t have to go through what I’ve gone, what we’ve gone through.”

Two floors below the brain science lab, attendees convened in an auditorium to read through a book written for families caring for a child with C.S. The book had been designed as part of a summer program with high school students interested in science, organized by Morrow and Liu in the CTN each year. By telling the story from a sibling’s point of view, the book provided a snapshot of what it’s like to live with and care for a person with C.S.

The high school authors as well as the book’s illustrator, Madeleine Watson, now a first-year student at Brandeis University, hoped that the book would be useful for parents to read to siblings of children with a new C.S. diagnosis. The book will be donated to the CSA to distribute to families.

One of the family members suggested turning the book into an animated clip — underlying the idea that while much work has been done, there is a still a journey ahead for those dedicated to improving the lives of children and families affected by C.S.