A mother’s advocacy results in answers

Aevary Kiernan, left, with her mother Jill Kiernan.
Photo by Jill Kiernan
Aevary Kiernan, left, with her mother Jill Kiernan.
Correction: An earlier version of this story misstated Aevary Kiernan's need for a knee replacement, and did not specify that a majority of cases of Tatton Brown Rahmann Syndrome are caused by random genetic mutations that were not inherited from parents.
STANFORDVILLE — Shortly after her daughter’s birth 21 years ago, Jill Kiernan realized baby Aevary was not progressing in the same manner as many newborns generally do after birth.
Kiernan, at the time a general education/special education teacher who lived — and continues to reside — in the Pine Plains area, was baffled by what she was seeing. Describing Aevary as “a floppy baby,” the infant was large, 9 lbs. to be exact, with low muscle tone, her tiny feet were turned down, there were difficulties with feeding, and the infant was slow to develop. While Jill Kiernan didn’t realize it at the time, she was at the beginning of a decade-long quest to get some answers on her daughter’s condition.
Clarity did not come easily or quickly. At the time of Aevary’s birth, Tatton Brown Rahman Syndrome, the condition affecting Aevary, was not yet identified by the medical community. In fact, the condition would not be pinpointed until 2014, designating it as a more recently discovered disorder.
One of the first steps in understanding Tatton Brown Rahman Syndrome is the knowledge of what constitutes a syndrome versus a disorder versus a disease. By definition, a syndrome is marked by groups of symptoms which simultaneously occur while a disorder is defined as a group of symptoms disrupting normal and daily functioning, resulting in significant impairment. Disease is an already identified medical condition with a distinct cause and with measurable components. In the case of Tatton Brown Rahman Syndrom, with the research and data in place, though limited, it is now all three — a syndrome, a disorder, and a very rare disease indeed which, according to Kiernan, affects about 450 identified persons worldwide.
At Aevary’s birth, there was little to no information available in the medical journals as to the source of her condition. Aevary’s growing list of symptoms mystified everyone around her — including health professionals, who were unable to provide the Kiernan family with any definitive insight. With the passage of time during Aevary’s childhood, additional issues would present themselves. Aevary, of course, was large from birth, but her physical growth accelerated at an abnormal rate. Unusually bushy eyebrows sprouted above her eyes. Developmental delays and intellectual challenges surfaced. Still, the Kiernan family received no answers to their inquiries from Aevary’s healthcare providers.
When Aevary was about ten, progress was made on determining her condition, which Kiernan describes as “a long hard journey,” which was finally labeled as Tatton Brown Rahman Syndrome. The disease is a complex autosomal dominant disorder affecting children who, by chance, inherit one copy of a mutated gene from either parent — but most cases occur because of a random mutation not present in the parent's DNA. More specifically, according to the website of the Tatton Brown Rahman Syndrome Community, a research and advocacy organization founded by Kiernan in the wake of Aevary’s official diagnosis, the disease is “a rare genetic disease caused by pathogenic variants (previously called mutations) in the DNMT3A gene… It is also called DNMT3A Overgrowth Syndrome.”
First identified in thirteen cases in the United Kingdom in 2014 by doctors Katrina Tatton-Brown and Nazneen Rahman, who were researching genetic drivers of overgrowth in individuals, members of the Tatton Brown Rahman Syndrome population are physically characterized by height and weight as affected individuals tend to be tall and heavy with a large head circumference known as macrocephaly and may display unique facial features. They may present with mild to severe intellectual disability. Behavioral and mental health issues may also surface as well as cardiac defects, orthopedic issues and autism, but according to Kiernan, a range of individual presentation of symptoms is common, the severity of which can vary between persons. Additionally, the Tatton Brown Rahman Syndrome gene is also linked to incidences of leukemia.
For Kiernan, while the diagnosis shed some light, it also brought some uncertainty. “It was a relief to have an answer,” she said of pinpointing the source of Aevary’s condition. But with the diagnosis came initial vagueness attached to Aevary’s outcomes or life expectancy as very little was known at the time of Tatton Brown Rahman Syndrome due to the small number of affected persons. Undeterred, however, Kiernan realized she could play a part in guiding medical research by sharing information with other families affected by Tatton Brown Rahman Syndrome as well as researchers, hence the creation of the Tatton Brown Rahman Syndrome Community.
The Tatton Brown Rahman Syndrome Community began with the creation of a website and a Facebook page by Kiernan. Through these mediums, Kiernan connected with other Tatton Brown Rahman Syndrome-affected families who began exchanging information on particulars pertaining to their individual cases. Eventually, the families began to meet. “We began informally gathering for support,” explained Kiernan, acknowledging the value of strength in numbers. Family conferences began to be organized with one taking place in 2018 at Rocking Horse Ranch Resort in Highland, New York. “Families came from all over the world,” explained Kiernan. “Dr. Tatton-Brown came over from the U.K.”
As the Tatton Brown Rahman Syndrome Community expanded, it led to the creation of a registry, which was launched in 2021 as families began donating blood and skin samples. The registry, in turn, became a valuable tool to researchers, who previously had little information available to them. As word of the existence of the Tatton Brown Rahman Syndrome Community spread, even more cases began to be identified, which, in turn, fueled the medical community with what Kiernan terms as “patient-driven research”.
Sources of funding for further research for the Tatton Brown Rahman Syndrome Community remains a challenge due to the rarity of the condition. “It’s hard to find opportunities in the rare disease space,” said Kiernan, who added that the Chan-Zuckerberg Institute provided $600,000 in grant monies a few years ago, but the funds have since dwindled. Appropriate grants, Kiernan explained, are difficult to find due to the rarity of the disease.
While Jill Kiernan is proof positive of how one person can make a difference, she’s focused less on accolades and more on her daughter. Aevary Kiernan has defied medical expectations with her viability, given the seriousness of her condition. While she will not be able to live independently, Aevary lives the life of a young woman who, while navigating physical and emotional challenges, enjoys spending time with animals, telling jokes, acting and singing. She was even featured on a segment of “Good Morning, America” which showcased her performance in a production of “Beauty and the Beast.” Aevary has completed high school via special education through the Pine Plains school district, first at the Center for Spectrum Services and then at the Center for Discovery. She is currently attending the Tri-Form program for individuals with challenges in Columbia County. Aevary’s future is uncertain, given her medical history and the possibility of future medical challenges. She suffers from joint and spinal issues, and will soon need a knee replacement. Whatever is to come next for Aevary is, for Jill Kiernan, “a ticking time bomb feeling,” but Kiernan remains optimistic about the future given how far she and her family have come on their Tatton Brown Rahman Syndrome journey. “We’ve learned a lot living in the rare disease world,” she said.
Additional information on Tatton Brown Rahman Syndrome can be found at: www.tbrsyndrome.org.
AMENIA — Sidewalk construction that will extend the town sidewalk to Beekman Park got underway this week along Route 44.
On Wednesday, August 20, the crew was checking excavation lines.
Work is expected to continue for the next three to four weeks. Residents should anticipate minor traffic delays.
Sidewalk construction that will extend the town sidewalk to Beekman Park got underway this week along Route 44. On Wednesday, August 20, excavation began. Project Manager Don D. was at the controls of the excavation equipment.Photo by Leila Hawken
In light of rising local interest in the centuries-old game of Backgammon, Wednesday afternoon backgammon instruction and play sessions are being offered at The Hotchkiss Library of Sharon. The first such session was held on Wednesday, Aug. 13, attracting two enthusiastic participants, both of whom resolved to return for the weekly sessions.
Expert player and instructor Roger Lourie of Sharon, along with his equally expert wife, Claude, led the session, jumping right into the action of playing the game. Claude chose to pair with Janet Kaufman of Salisbury, a moderately experienced player looking to improve her skills, while Lourie teamed himself with Pam Jarvis of Sharon, who was new to the game.
In 2023, Lourie formed Backgammon of Northwestern Connecticut with two objectives: to promote the game in the northwest corner of the state and to teach it to children and adults interested in learning. In addition to the Wednesday sessions at The Hotchkiss Library, an informal, casual group meets at Le Gamin in Sharon every Saturday morning from 9 a.m. to noon.
Acting as co-chairman is Ed Corey who leads the Le Gamin sessions, offering advice and instruction. Both Corey and Lourie play competitively and have distinguished themselves by winning tournaments. There are no fees for participation at either Hotchkiss or Le Gamin. Children, ages 8 and up, are welcome to come and learn the game, along with adults of any experience level.
Lourie says that he can teach a person to play competitively in three lessons.
Sessions at The Hotchkiss Library will continue until the end of the year and perhaps beyond, depending on interest. Lourie will be the instructor until mid-November, when expert player Ed Corey will assume responsibility for the sessions at the Hotchkiss Library.
“We’re hoping for more people and also to see youngsters participating and learning the game,” Lourie said.
“The beginner can be the expert with the right dice,” said Lourie, explaining that it is a game combining chance and strategy. An understanding of mathematics and probability can be helpful.
Lourie summarized the randomness of dice and the strategy of poker. “I want to know the proper etiquette,” Kaufman offered, intent on knowing more about the proper moves, although her play indicated a credible level of skill.
Stopping in to observe the Hotchkiss session, executive director of the library, Gretchen Hachmeister said, “We know that people come to library game sessions. People love games, getting together to learn something new.”
Lourie learned the game under extremely unusual circumstances — as a detainee in a Soviet prison during the1960s missile crisis, while working in Naval Engineering to decipher code for the U.S. Office of Technological Security.
Imprisonment was not terrible, he said. There was predictable questioning by day when he repeated daily the details of his cover story. But at night, the guards — many the same age as the detainees — had finished their shifts and of interrogation.They unplugged the cameras to brew tea and the backgammon games would begin. That was how Lourie learned the game and became an expert.
Board games date back 5,000 years to ancient Mesopotamia. Modern backgammon goes back to 17th-century England, having evolved from a 16th-century game called “Irish.”It grew in popularity in the 1960s, leading to formation of a World Backgammon Club in Manhattan. And then in 2023, Backgammon of Northwestern Connecticut came to be.
To learn more about the Backgammon sessions at The Hotchkiss Library, visit: www.hotchkisslibraryofsharon.org or contact Lourie directly at Rlourie@gmail.com.
Pantry essentials at Dugazon
You are invited to celebrate the opening of Dugazon, a home and lifestyle shop located in a clapboard cottage at 19 West Main Street, the former site of The Edward in Sharon. The opening is Wednesday, Aug. 27 at 11 a.m.
After careers in the world of fashion, Salisbury residents Bobby Graham and his husband, Matt Marden, have curated a collection of beautiful items that reflect their sense of design, love of hospitality, and Graham’s deep Southern roots. Dugazon is his maternal family name.
“My Louisiana roots come from my mother’s family in Baton Rouge via New Orleans where many of my memories of cooking, food, antiquing, flea markets, hospitality, entertaining, originate,” Graham said.“Being raised in Sioux Falls, South Dakota, enhanced the importance of community, family, friends and regional cultures, forming the essence of Dugazon.”
Graham and Marden sat on the front porch telling the story of their shop’s evolution. With its wicker loveseats and geraniums in bloom, the old porch invites visitors to linger.
Matt Marden and Bobby Graham open Dugazonat 19 West Main St.in Sharon on Aug 27. Jennifer Almquist
“Bobby has been talking about Dugazon ever since our first date 21 years ago,” Marden said smiling. “I could not be more thrilled that his dream has finally become our reality.”
Graham laughed, then shared their hope that Dugazon embodies the spirit of lagniappe, a French concept of “adding a little extra to bring unexpected kindness, generosity and delight into everyday life.”
Marden worked at Staley-Wise Gallery in New York City. “Town & Country” recruited him to cover men’s fashion. He became fashion director of “Details” magazine and later style director for “Esquire” magazine.
Graham spent 24 years at Condé Nast as a Fashion and luxury advertising sales executive for “Vogue,” “GQ,” “Vanity Fair,” “AD,” and “The New Yorker.”
Within their light-filled shop, unique antiques and vintage cookbooks mix with kitchen necessities such as wooden spoons and cutting boards. Dugazon is bursting with elegant and functional items ranging from designer John Derian treasures to Louisiana hot sauce, luxurious table linens from Milan-based La Double J, and pantry essentials including Café Du Monde beignet mix, Mam Papaul’s jambalaya fixings, and various jams.
Scandinavian 19-inch tapered candles from creators ester & erik are available in 30 colors. Other offerings include vivid naïve paintings by New Orleans-born artist Alvin Batiste, who now works out of Donaldsonville, Louisiana, and paper goods designed by Marden’s first cousin, Carey Marden Shaulus.
Alvin Batiste paintings and ester& erik candles on display at Dugazon.Jeff Holt
“Dugazon becoming a reality has been a lifelong dream that comes from deep in my creative soul,” Graham said.“My experiences and memories from my roots, family and friends is what Dugazon is all about. Being able to share this with the world means everything to us.”
Dugazon opens Wednesday, Aug. 27 at 11 a.m.and will be open Wednesdays through Sundays 11 a.m. to 5 p.m. Closed Mondays and Tuesdays.
Phone: 860-397-5196
Instagram:@dugazonshop
Website:www.dugazonshop.com