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.
PINE PLAINS — The Pine Plains FFA Ag Fair brought a crowd to the high school on Church Street Saturday, Oct. 11.
Kicking off the day was the annual tractor pull, attracting a dedicated crowd that sat in bleachers and folding chairs for hours watching Allison-Chalmers, International Harvesters and John Deeres compete to pull the heaviest weights.
A large collection of food was on offer from the Pine Plains FFA and each one of the classes in the Pine Plains Central School District. The football team was selling pickles.
Stissing Mountain High School Principal Christopher Boyd enjoyed a dip in the dunk tank to raise money for the Pine Plains teachers’ union-sponsored scholarship.
Stissing Mountain High School Principal Christopher Boyd got dunked several times during his half-hour shift in the dunk tank. Proceeds from the throws benefitted the Photo by Nathan Miller
The Rev. AJ Stack, center right, blessing a chicken at the pet blessing event at St. Thomas Episcopal Church in Amenia on Saturday, Oct. 4.
AMENIA — After serving more than five years as Priest-in-Charge of St. Thomas Episcopal Church in Amenia, the Rev. AJ Stack announced Tuesday, Oct. 7, that he will resign from the church and Food of Life/Comida de Vida pantry. His last day at his current post will be Sunday, Nov. 2, the conclusion of the Feast of All Saints.
The news was shared in two emails from Stack — one to Food of Life pantry subscribers and volunteers, and another to parish members.
“I write tonight with difficult news, and I wanted you to hear it from me as soon as the Vestry and I had a chance to meet,” he wrote. “After much prayer and careful discernment, I have submitted my resignation to the Vestry as Priest-in-Charge of St. Thomas, and therefore as Executive Director of Food of Life/Comida de Vida.”
Stack provided few details about his departure. At time of publication, he had not announced his next steps but said the decision was “not sudden,” and followed careful consideration over a period of months. He will not be leaving the area or the diocese.
An announcement about his path forward and the transition process is expected soon. In the meantime, Stack said he remains “fully present” at the church, and the food pantry services will continue without interruption.
Stack expressed gratitude for the community and the growth of St. Thomas’ mission during his tenure. “Together we have welcomed new neighbors and strengthened our outreach in meaningful ways,” he said. “I trust that good work will continue.”
He joined St. Thomas in March 2020 and guided the church and community through the challenges of the COVID-19 pandemic. In a recent interview with The News about the food pantry, Stack estimated that it serves 653 individuals from 156 households each week, highlighting a significant contribution to the community.
The announcement was met with messages of reassurance from pantry volunteers. Jolly Stewart, a Vestry member and volunteer, wrote to the community with words of reassurance following the announcement. “I have complete faith in the strength of the parish of St. Thomas,” she wrote. “Our history shows how we have done this time and again, each time becoming more than what we were before. We can, without a doubt, do this now.”
MILLERTON — Ten candidates for office in the Nov. 4 election will answer questions from Dutchess County voters at a candidate forum on Friday, Oct. 24, at the Annex at the NorthEast-Millerton Library located at 28 Century Blvd.
The forum, which is sponsored by the library, will be held from 6 to 7:30 p.m.
Candidates for local and county offices will answer questions from residents in attendance or from residents who have submitted questions in advance.
“We’re excited to keep the tradition of the candidate forum going,” said Rhiannon Leo-Jameson, director of the library. “Some years we can’t always get candidates together.”
This year’s forum will include:
Rachele Grieco Cole, a Democrat, and Chris Mayville, a Republican, who both are running uncontested for the North East Town Council;
Casey McCabe, a Democrat, also running uncontested for North East Justice.
Among Dutchess County races:
Tracy MacKenzie, who is endorsed by Republicans and Democrats, is running uncontested for Dutchess County Family Court Judge;
Kara Gerry, a Democrat, and Ned McLoughlin, a Republican, are in a contest for a Dutchess County Court judgeship currently held by McLoughlin.
Chris Drago, D-19, and Tonya Pulver, a Republican, are competing to represent Dutchess County’s19th District seat currently held by Drago.
Democratic incumbent Dan Aymar-Blair and Will Truitt, the Republican chair of the county legislature, are competing for the Dutchess County Comptroller position currently held by Aymar-Blair.
Leo-Jameson is encouraging questions for the candidates to be submitted in advance, which will not be revealed to candidates beforehand. Dutchess County residents may pose questions during the forum. To submit a question on the library’s website, go to the calendar at nemillertonlibrary.org and find the link in the Oct. 24calendar entries.
The format calls for opening statements from the candidates, followed by questions from residents, and candidates will be able to stay after the forum to answer questions personally.
The residence at 35 Amenia Union Road in Sharon was damaged after being struck by the Jeep Grand Cherokee around 3 p.m. on Saturday, Oct. 11.
SHARON, Conn. — Emergency crews were called Saturday, Oct. 11, to Amenia Union Road in Sharon for a report of a vehicle into a building with entrapment.
Connecticut State Police reported Charles Teti, 62, was driving his Jeep Grand Cherokee northbound on Amenia Union Road when, for an unknown reason, the vehicle veered across the southbound land and exited the roadway where it struck a tree and home. Airbags deployed.
Teti and front seat passenger Aidan Cassidy, 63, sustained serious injuries. Teti was airlifted to Hartford Hospital and Cassidy was transported by ambulance to Sharon Hospital for treatment.
Back seat passenger Shea Cassidy-Teti, 17, sustained fatal injuries and was pronounced dead on scene. Cassidy-Teti was a senior at Kent School. He played on the football and tennis teams.
The residence that was struck is located at 35 Amenia Union Road.
The case remains under open investigation. Witnesses are asked to contact Trooper Lukas Gryniuk at Troop B 860-626-1821.