‘I need to do all I can to help my child’
Family tries to find cure for daughter’s rare genetic condition
WESTPORT — Kimberly Greenberg gave birth to her oldest daughter, Parker, on Jan. 2, 2016, three weeks early without complications.
But while in the hospital, her daughter’s failed hearing test started a journey of consultations, surgeries and therapies, eventually leading doctors to diagnose her with an extremely rare genetic condition, HIST1H1E syndrome.
It’s so rare that Parker was the eighth case diagnosed worldwide, Greenberg said. HIST1H1E causes some mental and physical disabilities, including limited speech and mobility. Parker is starting to speak four-word sentences.
“I kind of knew, just when she was born, like mother’s intuition, that something was off,” Greenberg said.
Now, she’s fundraising for research, including the First Annual Bowling and Booze Bash at Bowlero in Norwalk on Friday.
Greenberg said Parker’s hearing
improved when she was around 4 months old, but there were more complications. Parker, Greenberg, and her husband, Jason, took an exome sequencing test when Parker was about 14 months old to see if any of them had genetic issues.
The test showed that Greenberg and her husband did not have anything, but Parker had another rare syndrome, DEAF1. Doctors and the Greenbergs felt there was something else affecting Parker though.
About a year and a half after Parker was born, in May 2017, a geneticist at New York University announced the discovery of HIST1H1E. A week before Parker’s second birthday, she was diagnosed with the syndrome.
A week before her second birthday, a geneticist at New York University said they discovered the real syndrome: HIST1H1E. Greenberg said the condition wasn’t discovered until May 2017 — a year and a half after Parker was born.
“We got very lucky that someone in the lab went back and reran her lab,” Greenberg said.
Since then, Parker has been to various therapies including occupational, physical, speech, feeding and aqua.
“We kind of went on this road of building out a team that could direct us,” Greenberg said.
Following Parker’s diagnosis, Greenberg joined a Facebook page with a few other families whose family members have HIST1H1E. It continued to grow, and now, there’s about 75
families within it, she said.
Greenberg said it’s amazing whenever an older child joins because it means the parents tested again after spending so long without answers. She said the families are in constant communication, sharing information.
“I’m one of those people that needs more answers,” she said. “In order for me to sleep better at night, I need to do all I can to help my child.”
So, in April 2019, Greenberg connected with Chief of Medical Genetics at Yale Dr. Yong-Hui Jiang, who researches this condition.
Greenberg also started the
HIST1H1E Genetic Syndrome Research Foundation and, under that, Parker’s Cure.
She said that because this condition is so rare, it is hard to receive federal funding for research.
Parker’s Cure has raised more than $200,000 over the last five years. As of Wednesday, the bowling event had raised another $30,000 with about 200 tickets sold and other fundraising for the event.
“It just shows how amazing this community is,” Greenberg said.
The $125 ticket comes with two and a half hours of unlimited bowling, an open bar and food.
There is also a silent auction that anyone can bid on online. Items include a jersey signed by Stephen Curry, jewelry, artwork and an opportunity to skip the wait list for a local pediatrician who currently isn’t accepting new patients
Greenberg said Jiang will also be there to talk about the condition.
Jiang said the goal of his research is to “understand the disease mechanism using HIST1H1E patient derived IPSC and mutant mice and develop molecular therapies.”
Jiang said the funding could support research initiatives.
There are currently a few hundred cases of HIST1H1E worldwide, said Jiang.
“The mutation for HIST1H1E is spontaneous and only a special genetic testing method can detect (it),” he said.
He said the number of cases will increase over time, and many diagnoses are missed within the community.
A new genome editing technique such as CRISPR/Cas9 may be an opportunity to cure or treat HIST1H1, Jiang said.
“What’s really important is trying to find some sort of cure, however that looks like,” Greenberg said.
Greenberg added that a cure may not be for those currently with the condition, but could give them a better future.
“The fact that people see this as something that they want to give to, it’s amazing,” Greenberg said. “I think Parker, there’s something special about her, that people adore her and love her.”