KIMBERLY GREENBERG, President
When Kimberly’s daughter Parker was born in early 2016, she instantly knew something seemed off. She failed her hearing test in the hospital and continued to miss hitting baby milestones. After seeing multiple physicians (neurologist, geneticist, ophthalmologist, orthopedist, developmental pediatrician) and seeing every type of early intervention therapist around we finally received a diagnosis in Dec 2017, a week before Parker's second birthday. Although she was relieved to have a diagnosis she was also frustrated by the lack of information for families. She eventually found other families (2 others at the time) on a Facebook group.
Inspired by the connections made as the group continued to grow in the HIST1H1E Parent Support Group on Facebook, Kimberly worked with a NYC law firm to create the HIST1H1E Genetic Syndrome Research Foundation in 2019. While creating the foundation she reached out to Dr. Yong-Hui Jiang in 2019 who had recently published a case study on HIST1H1E at Duke University to ask if he would be interested in researching the syndrome further. Luckily the stars aligned, and Dr. Jiang was interested; he now continues his research at Yale University as the Chief of Medical Genetics. Kimberly is very passionate about supporting other HIST1H1E Families and the research being done. Kimberly has been the largest advocate for fundraising to better understand this syndrome and single handedly coordinated the first HIST1H1E family and educational conference. At this conference in 2019 we had 11 families from across the world attend to build a community and listen to updates on the latest research presented by Dr. Youn-Hui Jiang and Dr. Kate Tatton-Brown.
In addition to actively raising awareness for HIST1H1E, Kimberly works as a Financial Advisor at Morgan Stanley in New York City and focuses her practice on helping financially plan for families with children with special needs. She loves spending time with family and friends, traveling and playing tennis when possible. She lives in Westport, CT with her husband and three daughters.
KARA MACMILLAN, Secretary
When Kara’s son Camden was referred to Neurology in 2014 with low muscle tone it began her fight for answers. As more tests and referrals came in with no answers, she sought out second opinions and scoured the internet for answers. When Camden received the results of his whole exome testing in 2016, they had found the HIST1H1E gene. At the time it was of unknown significance due to only one other individual having this gene. Kara spent hours a day searching anything she could about this gene. It was not until January of 2018 that something finally popped up on the internet with a syndrome associated with the HIST1H1E gene. Although she was relieved to have a diagnosis after searching for the 'why', she was also frustrated by the lack of information for families. She eventually found other families on a Facebook group that was created by a family searching for answers. Inspired by the connections made in the HIST1H1E Parent Support Group on Facebook, and the lack of information publicly available, Kara created and published www.hist1h1esyndrome.com in 2022 as a way to help give families accessible information regarding HIST1H1E.
Understanding full well how lonely and overwhelming it is for families to deal with such a rare diagnosis, Kara is determined to be a voice of positivity in the HIST1H1E community. She is very passionate about supporting other HIST1H1E families and helping them to realize there is a large spectrum when it comes to this diagnosis, and we can work together to fight for answers and a bright future for our children. In addition to actively raising awareness for HIST1H1E, Kara works as a Strategic Business Manager for Galderma, a Dermatology Company. She loves all things organization, spending time with family and friends and traveling when possible. She lives in the Metro Detroit area with her husband and three children.
KELSEY PITTS, Board of Directors
Kelsey's daughter Chloe was born 5 1/2 weeks premature in 2015; she had low muscle tone and difficulty breathing/swallowing. She spent 51 days in the NICU. They ran a lot of different genetic tests on her during that time and everything came back negative. When they left the NICU, Chloe still required oxygen as well as an NG feeding tube coupled with modified bottle feeding. In the first year of her life, they spent a lot of time with medical specialists and in various therapies with an ambiguous diagnosis of “developmental delay”. Finally in 2018, their Geneticist put in a special request to run a full genome panel of Chloe and her parents. This finally gave them the “HIST1H1E/Rahman Syndrome” diagnosis and that the mutation was “de novo” (meaning only in her, not passed from the parents). This was exciting news after 2 1/2 years of not having any answers. However, so little was known about this syndrome, as only 1 published article existed at the time, and only a handful of families shared the diagnosis. One of those families started a Facebook group, which they immediately joined and connected with other families and started sharing information!
Since Chloe's diagnosis in 2018 many more families have been diagnosed, multiple studies have been done and a handful of doctors have joined forces in continued research. A group of families started a Facebook group and this website to reach even more families in the most inclusive way possible, by giving every family the freedom to share their story and their experiences! We are so grateful you have found us, and we hope you feel welcomed into the HIST1H1E family with open arms!
JASON LEBLANC, Board of Directors
When Jason’s son Alex was born, tragedy struck. The excitement of having their first child, quickly turned grave. Jason’s wife Sarah and first-time mom became sick with an infection. She would shockingly pass away 5 days after labor and delivery. Jason was 31 years old and suddenly alone. Attention would quickly shift to Alex when he was declared a ‘failure to thrive’. In that same hospital, Jason rocked in a chair, bare chested, kangarooing Alex for days that led to weeks. It was a nightmare turned miracle that Alex had survived. These were difficult days.
Within the first six months, it was clear Alex had challenges. There were no answers. Global developmental delays, low muscle tone, undetermined level of blind deafness, aspiration, g-tube feedings were required, and all-around milestones were far from met. At six months the downward spiral continued. Alex started having Tonic-Clonic seizures on a daily basis. Alex would suddenly stop breathing and turn blue. Equipped with Diastat shots and Oxygen Tanks, Jason would revive Alex from his seizures on a regular basis. Alex would end up spending weeks and months at a time under the care of Neurology at Boston Children’s Hospital. During these years, Alex would also suffer from nearly 20 fractured and casted legs related to osteopenia and lack of muscle tone. This pattern of hospitalizations would continue for years.
Working closely with Genetics at Boston Children’s Hospital, Jason would receive an emotional phone call in August of 2017. An incredible discovery had been made. Exome Sequence Analysis had found a variance in gene HIST1H1E. More importantly, Alex wasn’t alone in world. Parents connected. A Facebook group was established. And even a long weekend where many of the kids met for the first time.
Today, Jason and Alex live in Newburyport Massachusetts with Melinda and his younger sister Jade. Melinda has been Alex’s mom for over 10 years and the only Mom he has ever known. In 2013 Jason and Melinda welcomed a healthy baby girl (Jade) into their family. In addition to a busy family life, Jason has worked independently as an outside consultant and cash flow planner for over 20 years. Specializing in independent Outdoor Stores that carry skis, kayaks, fishing gear, climbing and clothing brands. Jason provides buying plans, cash flow plans and budgeting oversight to owners and merchandise buyers on a monthly basis. He is also proud that his average client has been with him for over 15 years. And stuck with him during those difficult years and hospitalizations with Alex.
TRACY CHAPMAN, Board of Directors
Bio to come
BOARD OF DIRECTORS
All HIST1HE Foundation Board Members are unpaid volunteers. The goal of the Board is to work together to support our mission.
