Campus News

Couple’s gift supports research on son’s rare genetic condition

The McKeefery family. .

Nikki and Callum McKeefery and their son, Hudson.

By KATHY SWENSON

Published May 5, 2021

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“The best way for us to help our son, and other families like ours, is to support Dr. Huang and the science. He is our main source of hope. ”
Nikki McKeefery

Like most young married couples, Callum and Nikki McKeefery describe the months and days leading up to the birth of their son, Hudson, as exciting, hopeful and filled with anticipation.

“I had a really easy pregnancy and delivery,” recalls Nikki.

Hudson, born in 2016, was the perfect baby in their eyes, and they had no reason to be concerned. As he grew during his first year, however, they began to realize that he was struggling to achieve milestones typical of infant development.  

“By six months he hadn’t gained head control, and he wasn’t reaching or rolling over as expected,” says Nikki.

The couple started searching for a doctor who could help Hudson.

They took him to see a multitude of pediatricians, therapists and specialists in Orange County, California, where Nikki grew up and where Hudson was born, and in Leicester, England, where Callum hailed from and where the couple called home and based their successful business.

In his first years of life, Hudson endured magnetic resonance imaging (MRI) scans, electroencephalogram (EEG) tests, and numerous blood draws in the hopes of finding a cause for his developmental delays.

“Hudson handled everything so well,” Nikki recalls, fighting back tears. “But no one had any information for us. It was deflating, and we felt really lost.”

Then, results from the 100,000 Genomes Project, coordinated by Genomics England, diagnosed Hudson with a rare genetic mitochondrial disorder — flavoprotein ferredoxin reductase (FDXR) mutation.

Heartened and hopeful

The McKeeferys’ physician in the U.K. gave them a research paper by Taosheng Huang, chief of the Division of Genetics in the Department of Pediatrics at the Jacobs School of Medicine and Biomedical Sciences. In the paper, Huang described his work in this specialized area of genetics, and they immediately reached out to the renowned scientist.

“It’s his life’s work; he’s knowledgeable, compassionate and understanding,” Nikki says. “He’s the only person working in this specific field.”

A few weeks before the COVID-19 pandemic shut down travel from Europe, the family flew to the U.S. to connect with Huang.

“Time is critical,” Nikki says. “The sooner we can get Hudson help, the better.”

Feeling heartened and hopeful by their interactions with Huang, the McKeeferys made the decision to donate $1 million to the Jacobs School to develop a national and international patient registry for FDXR genetic mutation research, as well as to establish and equip Huang’s laboratory to further research the FDXR genetic mutation.

“Mitochondrial dysfunction lies behind many neurodegenerative disorders,” Huang explains. “This significant investment will accelerate research, with the ultimate goal of bringing medications and therapeutics from the lab to the bedside for FDXR patients.”

Steven E. Lipshultz, A. Conger Goodyear Professor and chair of the Department of Pediatrics in the Jacobs School, adds: “The McKeefery family’s philanthropic leadership demonstrates a sincere dedication to innovative medical discoveries. Thanks to their support, Dr. Huang and the Division of Genetics will vastly expand its leading-edge scientific and clinical expertise in genomic medicine.”

For the McKeeferys, the commitment is as practical as it is heartfelt: “The best way for us to help our son, and other families like ours, is to support Dr. Huang and the science,” says Nikki. “He is our main source of hope.”

The McKeeferys’ gift is part of the Boldly Buffalo campaign. Read about the campaign.