Kimberly Greenberg’s baby, Parker, was born a few weeks early but came into this world on January 2, 2016, as a healthy, normal baby. However, just before Parker was to be discharged from the hospital she was given a hearing test and failed the test.
In the weeks that followed Parker underwent a series of consultations, therapies, and surgeries. Her doctors eventually diagnosed Parker with an exceptionally rare genetic disorder called HIST1H1E syndrome, a newly reported intellectual disability syndrome.
The disorder is responsible for various physical and mental disabilities including limits to mobility and speech. Lately, Parker has been speaking in very limited sentences.
Kimberly and Jason, her husband, took exome sequencing tests fourteen months after Parker’s birth. Although her parents’ tests were clear, Parker’s test found DEAF1, a rare syndrome causing intellectual disability, speech impairment, and behavioral problems.
In May 2017 HIST1H1E was discovered by a geneticist at NY University. Parker was tested and found to have the syndrome. Feeling that she must do everything in her power to help her daughter, Kimberly contacted Dr. Yong-Hui Jiang, director of Yale’s Medical Genetics.
The contact led Kimberly to establish the Genetic Syndrome Research Foundation for HIST1H1E that included “Parker’s Cure” a subsidiary of the Foundation. There is an urgent need for federal funding to subsidize research due to the rare nature of the disease.
The NIH issued a report in December 2020 with a summary of the primary symptoms found in forty-seven individuals with HIST1H1E. In addition to the aforementioned symptoms, they listed skeletal issues such as bone mineral density and scoliosis.
In Lieu of a Cure
Parker has since been receiving several therapies such as feeding, speech, water exercises, occupational, and physical.
After receiving Parker’s second diagnosis, Kimberly joined Facebook along with several HIST1H1E family members. The group has grown steadily and currently numbers seventy-five patients and families.
Kimberly noted that she is encouraged each time an older child joins the group. It means that patients, who may have been unable to receive a diagnosis, have been retested and given the name of their disease.
Kimberly stresses the importance of constant communication among families.
About the Fundraising
On January 27th, Kimberly held the First Annual Bowling and Booze Bash at the local Bowlero in Norwalk. The funds will go to research. Over the past five years, Parker’s Cure raised over $200,000. The bowling night raised $30,000 through the sale of 200 tickets and other activities prior to the event.
Kimberly set up a silent auction allowing anyone to bid on art, jewelry, and specifically a jersey autographed by Stephen Curry.
There is still a long journey ahead towards relieving symptoms and eventually a cure, but this dedicated family and all the dedicated families in the group hold onto that goal every hour of every day.