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I am Stephanie

Struggling With Undiagnosed Condition, Woman Turns Her Thoughts to Others

 

Stephanie Foster, who looked beyond her own pain to try to help others, passed away peacefully at her home on October 15, 2012. Her story is illustrative of the plight of countless others who live with devastating diseases for which they are unable to obtain a diagnosis.

stephanie-family

Stephanie Foster (center) with (from left) Stefanie Putkowski, RN, Father Daniel Sinibaldi, and her parents, Laurie and Stephen Foster.

NORD published the following story in September 2012.  To make a donation in Stephanie's honor, or read about other ways to support the rare disease patient community, click here.

A young New Hampshire woman has shown what courage and spunk are all about.

Stephanie Foster, 23, of Rochester, has been struggling for 10 years with a rare, progressive neuro-degenerative disorder. Despite being seen by specialists at several top-notch medical institutions, she still has no diagnosis.

But instead of feeling sorry for herself, this plucky young woman decided to organize a fundraiser on behalf of all people with undiagnosed rare diseases. And she decided to donate the proceeds to the National Organization for Rare Disorders (NORD), a nonprofit organization that represents all Americans who have rare diseases.

“At NORD, we hear daily from people seeking a diagnosis,” says Stefanie Putkowski, RN, of the NORD staff.  “It’s not unusual for it to take five years or longer. And some people never get a diagnosis. But Stephanie decided to use this terribly sad situation as a way to show concern for others. She chose to do a fundraiser for ALL people with rare diseases, and her family, church and community showed incredible support for her project.”

Stephanie found NORD’s website (www.rarediseases.org), and read about the organization’s programs of advocacy, education, research and patient services. Her mother, Laurie, contacted NORD and obtained brochures, fact sheets, lanyards, and Rare Disease Day bracelets to distribute to those supporting the event.

Stephanie mentioned her plan to the family’s parish priest, Father Daniel Sinibaldi (“Father Dan”), of St. Mary’s Church.  His immediate response was, “Use our parish hall – it’s yours!” A spaghetti dinner was planned, which would also include music from CDs that Stephanie compiled, over 30 donated raffle items, and a silent auction.

With help from her mom, Stephanie composed a letter, hoping to spread the word about her planned fundraiser. Her dad, Stephen, younger sister Lauren, older brother Eric and grandmother delivered copies of the letter to various businesses in town. As word of the fundraising event spread, offers of assistance started pouring in.

Timothy Jackson, a neighbor and professional chef, donated all the food and his cooking expertise. Stephanie helped make the meatballs.

On Saturday, June 23rd, Stephanie’s fundraiser, “A Rare Night,” took place before a sold-out crowd at St. Mary’s parish hall. People had to be turned away because the church’s parish hall only holds 120.

Looking beautiful in a deep pink gown, Stephanie read a message to her supporters. “I have been sick a lot for the past ten years, but this last year I have been getting progressively worse. My doctors are still testing to find out which rare disease I have. Each rare disease they test for takes months to diagnose or rule out.”

Stephanie received a standing ovation after reading her message, and raised $4,300 that night!

A few weeks later, Putkowski visited the family’s home and Stephanie was able to present the check to her in person.  Additional donations have come to NORD in honor of Stephanie since then.

Laurie Foster says her daughter’s medical issues began in infancy, with growth and developmental delays from no obvious cause. Stephanie received physical and occupational therapy, and was able to attend her local elementary school.

At around age 11, medical issues began surfacing, including recurrent bladder and kidney problems.

Shortly after graduating from high school, Stephanie developed trouble walking. She also developed a rare condition called postural orthostatic tachycardia syndrome (POTS), a rare disorder of autonomic dysfunction that causes light-headedness and, sometimes, fainting upon standing up, accompanied by a rapid heartbeat.

By April 2011, Stephanie had become wheelchair-bound, and in January 2012, she needed a feeding tube due to an inability to swallow food. Her muscle weakness continues to increase.

Stephanie’s condition has stumped all of her doctors. She is currently waiting for the results of recent testing by a neuro-geneticist from Mass General Hospital.

Meanwhile, all donations made to NORD in Stephanie’s honor will support educational and awareness programs to help medical professionals and the public better understand rare diseases and the challenge of living with an undiagnosed disease. There are nearly 7,000 diseases considered rare, affecting almost 30 million Americans.

“At NORD, we meet incredibly inspiring people living in very difficult circumstances,” said Putkowski. “Each one is unique to us. And our staff finds inspiration and renewed dedication to our work through getting to know people like Stephanie and the entire Foster family.”

Stephanie’s advice to others going through the diagnostic journey is: “Ask yourself, what do you want -- and what do you want to do to help others? Then do it!”

 

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(Photos by Rebecca & Taryn, Rochester, NH)

 
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