One in a Million ®

NORD raises awareness of rare diseases by telling the stories of affected individuals and families. In these “One in a Million” stories, we hope to communicate that every life is important and no disease is rare when it affects someone you love.

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Stephanie Hunt

After her son, Donnie, was diagnosed with a rare disorder believed to affect fewer than 1,000 people worldwide, Stephanie Hunt did the only thing she could think of to help him: She lost 100 pounds.

A strikingly beautiful woman with a smile that lights up any room, Stephanie had won scholarship money as a teenager and college student by participating in pageants. Then the years took her in other directions with marriage, a career as an airline flight attendant, and a family.

But when Donnie was born xx years ago, Stephanie and her husband, Don, were told that their precious baby had an extremely rare condition known as Rubinstein-Taybi syndrome. Researching the disorder, the Hunts were dismayed to realize that few people knew about this syndrome, little had been written about it, and…worst of all…almost no one was doing medical research on it.

Desperate to help her son, Stephanie performed a mental inventory of her lifetime skills, abilities, and experiences. Then she went into action. She worked out and dieted to lose 100 pounds, touched up her makeup and wardrobe, and re-entered the world of pageantry, this time—at age 43—seeking the title of Mrs. United States.

“Like any mother, I am eager to do whatever I can to help my child,” Stephanie explains. “I knew that, as Stephanie Hunt, I would not be heard. But, as Mrs. United States, my voice would speak volumes!”

In 2006, Stephanie fared well in the pageant, being selected a finalist in the national competition as Mrs. Michigan. This year, to her amazement, she won the national competition held in July in Las Vegas. All states and U.S. territories were represented, and each candidate was invited to speak on the “cause” she represented. Stephanie’s cause was the more than 25 million Americans with rare disorders.

Now, as Mrs. United States, she has 12 months of media attention to shine a spotlight on Rubinstein-Taybi syndrome and all rare diseases. In her travels around the U.S., she is billed as a spokesperson for NORD when she speaks or is interviewed by reporters.

Rubinstein-Taybi syndrome was first identified in 1963 by Jack Rubinstein, MD, a pediatrician who was affiliated for many years with Children’s Hospital Medical Center of Cincinnati, and Hooshang Taybi, MD, a pediatric radiologist. It is characterized by broad thumbs and first toes, short stature, developmental delays, and distinctive facial features. Other signs may include eye abnormalities, heart and kidney defects, dental problems, and obesity.

Dr. Rubinstein, who died in 2006, wrote the entry on this disorder for NORD’s 2003 book, NORD Guide to Rare Disorders. In that description, he provided a lengthy list of characteristic signs and symptoms, not all of which would be present in each case. These include feeding difficulties and gastroesophageal reflux, recurrent respiratory infections, and abnormalities of the joints and gait; facial features; eyes and eye muscles; heart, kidneys and skin. Although the disorder is genetic and is associated with changes on chromosome 16, most cases appear to be new mutations and occur in people with no family history of the disorder.

Donnie, who is the youngest of Stephanie’s children, is affectionate and outgoing. He communicates but not with words. “He enriches our lives in so many ways,” Stephanie says. She spoke at the recent NORD Annual Conference about being the parent of a child with a rare disorder.

In addition to her travel and speaking engagements, Stephanie has been part of a national effort to raise money for research on Rubinstein-Taybi syndrome. With other members of the Rubinstein Taybi Family Research Fund (www.rtsresearch.org), she has helped raise more than $300,000 to support research on R-T syndrome. The fund is supporting research by Eric Kandel, MD, professor of physiology and cellular biophysics, at Columbia University Medical Center.

“Raising money for research on cures and treatments is hard enough with common diseases like breast cancer,” she says. “But when people are trying to raise money for something no one has heard of, it’s even harder. However, I think people can relate to the fact that I’m a woman trying to make a difference in her child’s life.” To read more about Stephanie’s experiences and what she is doing to raise awareness of rare diseases, go to www.stephaniehunt.net.