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.
Two uprooted locust trees still lie in the yard in front of Animal Farm Foundation’s original kennels where they fell on a fence during a storm on Thursday, June 19.
AMENIA — Fallen trees, uprooted and splintered during a thunderstorm, injured a man, destroyed fences and damaged a dog kennel at the Animal Farm Foundation facilities in Bangall.
Isaias Nunez was cleaning along a road on the property with Marco Ortiz, another employee of the dog shelter, when the storm rolled in on the afternoon of Thursday, June 19.
“We saw the storm getting stronger,” Ortiz said. “We started talking, ‘we should check for trees.’ That’s when I looked outside the Kubota and I just started screaming ‘run!’”
A branch from a tree just above their utility vehicle had split. The two men ran from the vehicle, but the falling branch caught Nunez and struck his back.
The fallen branch caused some soreness and bruising, Nunez said, but no broken bones. After a short hospital visit, doctors sent Nunez home to rest and heal. He has since returned to work, helping to repair the broken fences and clean up the storm damage that still lingers.
Uprooted locust trees mangled fences, damaged roofs and knocked down power lines all over the 400 acre farm that houses the Animal Farm Foundation’s shelter.Nathan Miller
The powerful storm uprooted and knocked down branches of dozens of black locust trees on the Animal Farm Foundation’s property and on neighboring properties along Pugsley Hill Road and Shaefer Road. Nikki Juchem, Director of Operations and Public Policy for the shelter, was in a meeting with Executive Director Bernice Clifford and founder Jane Berkey when a tree outside the main office building was struck by lightning and fell on the farm’s donkey enclosure.
“It’s really a miracle that everyone was unscathed, as well as the animals,” Juchem said.
In addition to Nunez’s injuries and the damaged donkey enclosure, fallen trees destroyed the fencing that secured the Animal Farm Foundation’s original kennel yard, fencing for a horse paddock, and poked a hole through the roof and into the ceiling of one of the facility’s dog play rooms.
And more was at risk than just the employees, volunteers, dogs, and other animals already sheltered at the farm. The shelter was expecting about 15 more dogs to arrive shortly after the storm.
“We were fixing up the horse barn to be dog kennels,” Juchem said. “Luckily we had all the extra space, because we would have been in a real pickle.”
All the dogs that were being kept in the original kennel building had to be moved to the newly renovated kennels so the noisy repairs wouldn’t bother them, Juchem said. Fosters stepped up to house dogs that couldn’t fit while necessary repairs were being completed, too.
A log stuck on a fence post outside the shelter’s kennel building.Nathan Miller
“Lots of damage but we had a lot of support from the community,” Juchem said. “We had contractors come out immediately to start cutting down trees and helping us out with the cleanup, so we’re doing OK now.”
The cleanup and repair process is ongoing, but Juchem said the total cost is still unclear.
Animal Farm Foundation is a nonprofit dog shelter with a focus on “pit bulls,” Juchem said. “Breed is not behavior,” she said, emphasizing the organization’s guiding philosophy. More information on volunteering, donating to the shelter, or adopting a dog is available online at www.animalfarmfoundation.org
The Animal Farm Foundation will be collaborating with the North East Community Center Farmers Market to bring adoptable dogs to the market every Saturday during the month of August.
Uncommon books at the intersection of art and literature.
Siglio Press is a small, independent publishing house based in Egremont, Massachusetts, known for producing “uncommon books at the intersection of art and literature.” Founded and run by editor and publisher Lisa Pearson, Siglio has, since 2008, designed books that challenge conventions of both form and content.
A visit to Pearson’s airy studio suggests uncommon work, to be sure. Each of four very large tables were covered with what looked to be thousands of miniature squares of inkjet-printed, kaleidoscopically colored pieces of paper. Another table was covered with dozens of book/illustration-size, abstracted images of deer, made up of colored dots. For the enchanted and the mystified, Pearson kindly explained that these pieces were to be collaged together as artworks by the artist Richard Kraft (a frequent contributor to the Siglio Press and Pearson’s husband). The works would be accompanied by writings by two poets, Elizabeth Zuba and Monica Torre, in an as-yet-to-be-named book, inspired by a found copy of a worn French children’s book from the 1930s called “Robin de Bois” (Robin Hood).
Pearson first encountered the world of alternative publications — magazines filled with experimental writing, artworks in the form of a book, and samizdat literature — as a young writer living in Berlin just before The Wall came down in 1989. Later, in New York City, she spent a great deal of time with artists “who were always making and assembling, whose continuous art-making made the thin membrane between art and life even more porous,” she explained.
Pearson traces the idea of publishing to a 2001 exhibition of artist-poet Joe Brainard. That show led to “The Nancy Book,” Siglio’s debut title in 2008, and she’s never looked back. The book contains over fifty full-page reproductions of Brainard’s dazzlingly accomplished and witty drawings of the cartoon strip character, Nancy. It includes essays and contributions by Robert Creeley, Ann Lauterbach, Frank O’Hara, Ron Padgett, and other poets of great renown, all thrilled to celebrate and remember Brainard (sometimes called “a poet’s artist”) who died of AIDS in 1994. Pearson said, ‘My first project with Brainard was such a good experience, I kept going. “
Since then, Pearson, the sole proprietor of Siglio, has designed, edited, and published over 40 books and other printed editions. Her books are characterized by unexpected juxtapositions of texts and images and collage-like assemblages, as well as for carefully designed and gorgeously printed volumes. Her list includes many “rediscoveries” of unpublished manuscripts and little-known publications. At the same time, she has commissioned new work from an impressive array of artists and writers such as Christian Marclay, Sophie Calle and Cecilia Vicinua among others.
Uncommon books at the intersection of art and literature.Richard Kraft
Though most Siglio books feature work by artists and writers from the 1960s to today, one standout— “Tantra Song” (2011) — showcases vibrant 17th-century Indian tantric paintings collected by poet-ethnographer Franck André Jammes, their modernist feel echoing Hilma af Klint or Brice Marden. Siglio also frequently draws on the spirit of the Fluxus movement, reissuing works by figures like John Cage and Ray Johnson with editions that honor their playful, ephemeral, and poetic origins.
Siglio also excels at photo-narratives rooted in highly specific, often eccentric concepts. “Memory” (2020), by avant-garde writer Bernadette Mayer, reproduces her journal and daily rolls of 35mm film from a month in the Berkshires in 1971, capturing the texture of each day. “Call and Response” (2022), created during COVID lockdown by composer and visual artist Christian Marclay, pairs his photographs of London’s quieted streets with musical scores composed in reply by his friend Bruce Beresford—each image in dialogue with sound.
Siglio books are sold through it’s website (sigliopress.com), as well as museum or specialty bookshops. (The Lenox Bookstore represents a number of Siglio books; the newly opened Lakeville Books & Stationery has copies of “Tantra Song.”) In all cases, Pearson strives to make “two or three degrees of connection” with each book buyer, including a “special gift” — often a piece of printed ephemera — with each purchase.
Cyclists head south on the rail trail from Copake Falls.
After a shaky start, summer has well and truly descended upon the Litchfield, Berkshire and Taconic hills, and there is no better way to get out and enjoy long-awaited good weather than on two wheels. Below, find a brief guide for those who feel the pull of the rail trail, but have yet to purchase their own ten-speed. Temporary rides are available in the tri-corner region, and their purveyors are eager to get residents of all ages, abilities and inclinations out into the open road (or bike path).
For those lucky enough to already possess their own bike, perhaps the routes described will inspire a new way to spend a Sunday afternoon. For more, visit millertonnews.com/tag/bike-route to check out two ride-guides from local cyclists that will appeal to enthusiasts of many levels looking for a varied trip through the region’s stunning summer scenery.
Covered Bridge Electric Bike
Instagram @coveredbridgeebike
West Cornwall:
421 Sharon Goshen Turnpike
West Cornwall, Connecticut 06796
(860) 248-3010
Closed Tuesday, open 10 a.m. to 5 p.m. all other days
Kent:
25 N Main Street
Kent, Connecticut 06757
(860) 248-3010
Open Wednesday to Sunday,
10 a.m. to 5 p.m.
North Canaan:
1 Railroad Street
North Canaan, Connecticut 06018
(860) 248-3010
Open Wednesday to Sunday,
10 a.m. to 5 p.m.
With three locations in the Northwest Corner, this outfit offers a speedier way to zoom on two wheels through the hills with electric-powered offerings for sale or rent. Rentals are available for two hour trips, half days or full days, with several sizes and models in both throttle and pedal assist e-bikes of various styles. Route maps and e-bike trainings are on offer for renters, and guided tours are available on select weekdays. Visit the website, call or email at info@coveredbridgebike.com for pricing and more information.
Each location has its own suggested routes of varying difficulty. Ethan at the Kent location says, “The first place we send people is Macedonia Brook,” the shady and bucolic state park just northwest of downtown. For a more involved ride, Ethan also recommended the quiet country roads that wind through the picturesque hill valleys to the east of town, especially off of Kent Hollow Road and toward Lake Waramaug.
Spencer, who works at the newest location in North Canaan, said that a dual-state two hour ride that takes cyclists into Massachusetts in Ashley Falls, then down into Taconic on Barnum Street and back to North Canaan via Twin Lakes Road and Cooper Hill Road, is his favorite. At the company’s West Cornwall location next to the its namesake bridge, Spencer said a classic ride is up River Road all the way to Falls Village, where riders may visit Great Falls or find some refreshment at the soon-to-open Off the Trail Café. For a longer journey, Spencer suggested continuing up Housatonic River Road north from Falls Village, where it turns into dirt and passes through gorgeous riverside farm country.
The Music Cellar
Instagram @the_music_cellar
14 Main Street
Millerton, New York 12546
(860) 806-1442
Scheduling is available via call or text 24/7
The Music Cellar is an all-instrument music school for aspiring instrumentalists, but it also rents beach cruiser bikes during the warmer months. “They’re perfect for the rail trail,” says owner and music instructor Johnny, referring to the currently 26-mile (and expanding) bike and footpath that passes just outside the storefront. “You don’t have to worry about hitting little bumps or potholes or curbs or whatever – they’re good all-purpose bikes,” he said.
Unique among area bike rentals, the Cellar offers rates starting at $20 for those looking for a shorter ride up to $50 for the day and Johnny said that he’s happy to accommodate sliding scale pricing for locals might have trouble affording the full rate. “It does help keep the lights on, though,” he said, “so if you’re renting bikes, you’re helping kids learn music!”
Johnny said that with the Harlem Valley Rail Trail at his front doorstep, he usually sends riders for a journey on the reclaimed abandoned railbed. The path currently stretches from Wassaic to the hinterlands of Hillsdale, with another 20 miles to Chatham planned to be built in the next five years pending funding. Johnny said riders can choose to head north for sweeping valley vistas below the Taconic mountains, or, “for a more shady ride, you could go south – also equally scenic, lots of wildlife. You can go all the way to Wassaic Station and jump on a train to New York.”
Bash Bish Bicycle & Tour Co.
Instagram @bashbishbicycles
247 NY-344
Copake Falls, New York 12517
(518) 329-4962
Tuesday to Saturday, 10 a.m. to 5 p.m.; Sunday 10 a.m. to 3 p.m.
Located a dozen or so miles up the rail trail is the “ye olde bike shop of the Hudson Valley,” as described by its owner Sam. The shop is just two years from its 30th birthday, and appropriately exudes small-town charm without skimping on modern equipment and service. “It’s the best little bike store in the Hudson Valley,” said Northeast resident Dan Sternberg, who was clad in a cycling kit outside the store on a sunny Friday afternoon in June.
The shop is situated steps from the rail trail, just below the deep, clear and refreshing water of Ore Pit Pond in Taconic State Park, a short jaunt from the old Copake Iron Works site and a mere half mile from the parking lot for one of the Taconic’s region’s treasures and the store’s namesake – Bash Bish Falls. Sam offers day tours to highlight the richness of the region – not only in its natural resources but also the pastoral, cultivated splendor of the farm roads that cut through the hills to the west of Route 22.
Sam says he plans to start running multi-day tours, drawing on experience he had guiding extending bike excursions while operating a lodge in Colorado. Also upcoming is a pop-up shop in Millerton for the summer, which he anticipates opening shortly once the permitting is in order.
In addition to tours, the shop offers sales, repairs and rentals, starting at $35 for a two-hour hybrid bike session ($15 for kids) and $45 for two hours on an e-bike. Visit the website for full pricing details on four hour, full day, multi-day, and weekly rates. Bookings can be made online or via phone.
Sam says he likes to direct guests towards the scattered gems of restaurants, bars and shops that pepper the rail trail corridor and into the hills and dales beyond. The Copake General Store, dishing coffee and café fare alongside locally-produced provisions is just down the road, while market and cultural center Random Harvest and beloved seafood peddler Zinnia’s Dinette sit a close ride away in Craryville. For a summer afternoon tipple, Roe Jan Brewing Company is up the rail trail in Hillsdale, and the creek-side beer garden atmosphere of the Lantern Inn is a somewhat stouter 25 miles down the path in the other direction.
Berkshire Bike & Board
Instagram @berkshirebikeandboard
29 State Road
Great Barrington, Massachusetts 01230
(413) 528-5555
Monday to Friday, 10 a.m. to 6 p.m.; Saturday closing at 5 p.m.
and Sunday at 4 p.m.
With Berkshire locations in Great Barrington and Pittsfield, and two other satellites in Hudson, New York and Bloomfield, Connecticut, Berkshire Bike & Board offers the gamut of cycling needs – a wide variety of gear, expert sales assistance, service and repairs, and of course, rentals.
All four locations carry an e-bike, which costs $69.99 for a single-day rate or a discounted price of 49.99 for longer rentals. The Great Barrington store also offers a non-electrified gravel bike for a single day rate of $99.99 or $79.99 for multiple days. All bookings for rentals are made online on the company’s website.
Great Barrington employee Wyatt described the gravel bike as “a little more aggressive” than a standard hybrid, and “able to handle packed dirt, a little bit of loose gravel, back roads, but not be super slow like a mountain bike” on pavement.
He said both the e-bikes and gravel bikes are well suited to handle one of his favorite routes, the Alford Loop. An approximately 20 mile ride, cyclists take Alford Road northwest out of Great Barrington, and then upon reaching Alford, may choose to take East Road to West Road or vice versa for a scenic and easy circle through the Berkshire forest and fields. In Wyatt’s words: “Great loop, super quiet, not a lot of cars.”