For one seven-year-old named Jordan, Geisinger physicians’ diagnosis of a rare genetic disease leads to a kidney transplant, and a quality of life she’s never known.

One snowy day in December 2008, Nicole ducked into an alcove that separated two pre-operative surgery areas at Geisinger Medical Center, Danville. She needed a short, quiet moment to herself, to pray. In one area, a gurney held her sister, Jocelyn. In the other lay her seven-year-old daughter Jordan. All three, indeed the entire family, had spent months planning for this day, the day Jordan would receive a life-changing, life-saving kidney transplant—a beautiful and generous gift from her Aunt Jocelyn.

“I remember that time so clearly,” says Nicole, who lives with her family in Catawissa, PA. “I just had a little two-minute meltdown there in the pre-op area. I felt so blessed. The time had finally come.”

Jordan’s toddler years

It had taken most of Jordan’s life and a variety of Geisinger specialists and sub-specialists to get to this day. Almost from birth, Jordan had unusual and seemingly unrelated medical conditions that defied easy diagnosis. First, her eyes had an unusual appearance. Poor muscle tone made it hard for her to roll over, crawl and walk.

“For a while, she had physical therapy using tiny parallel bars and a kid-sized walker,” Nicole recalls. “Once she started walking, she was off and running, almost literally.”

But other problems kept nagging at Nicole and at Jordan’s pediatricians. They began suspecting an underlying problem. Jordan remained small for her age. She was tired all the time. And she was always thirsty.

“She wanted to drink out of the cat’s bowl, the flower vase, anything with water,” Nicole recalls. “It was heartbreaking to see how thirsty she was all the time.”

Extremely rare kidney disease

All these symptoms finally came together in 2005, when physicians at Geisinger diagnosed Jordan’s condition. She had nephronophthisis, a very rare genetic disorder.

Jordan’s kidney disease is caused by a recessive gene, one that both her mother and her father had to have in order for it to affect their child. It’s so rare that it occurs in only about one percent of all people with kidney disease.

“As hard as it was, I was so relieved when she finally got diagnosed,” Nicole says. “I’m a nurse, but I’m also a mother. The doctors and nurses did a great job of balancing that, of answering questions, or just listening to me. They were great with the entire family.”

Hospital visits, fun included

The diagnosis began to explain so many of Jordan’s symptoms. But it also meant that Jordan and her family had some serious times ahead. Jordan spent a lot of time at the Janet Weis Children’s Hospital, on the campus of Geisinger Medical Center in Danville.

“Everyone was always upfront with her about what tests she was going to have and whether she would need to stay overnight,” Nicole says. “As often as not, though, Jordan would focus on when she’d get to go to the playroom there or when the Tender Paws therapy dogs would be coming by to visit her in her room. She loved those dogs.”

This time was sometimes hard on Jordan’s twin sisters, aged 4 ½ years old, since their parents had to spend so much time with Jordan. Even with the help of Jordan’s teen-aged sisters, this was still a long, difficult long period.

An early Christmas gift

Jordan’s rare disease affects both kidneys. Even with medications and nephrolysis, children with this condition do not usually live for more than 30 to 50 years. Jordan didn’t have even that long—unless she had a transplant.

And so the family assembled at Geisinger that snowy day in December, just a week before Christmas.

The surgery was a success. Jordan’s Aunt Jocelyn recovered quickly.

“My sister’s amazing,” Nicole said. “She’d never given this a second thought. And for Jordan to receive a kidney from a living donor gives her so much more of a chance.”

Sunshine and swing sets

As for Jordan, improvement was immediate.

“I don’t think either she or I knew how sick she had felt,” Nicole says. “After surgery, her energy level was like night and day. She talks so much more, and she has a lot of confidence now.”

Jordan’s first grade classmates recently welcomed her back to school with a big handmade banner.

“I’m happy and excited to go back to school,” Jordan says.

Unlike a few short months before, Jordan today leaves behind the face mask she’d worn to prevent infections, the huge pills she had to take at school and at home, and the naps she used to take mid-day while her classmates enjoyed sunshine and swing sets.

A special message from Jordan

Nicole says she is perhaps most happy that Jordan will be able to fully enjoy her friends and school just like everyone else. To give others that chance, Nicole has made sure she has the organ donor box checked on her driver’s license, and that her family understands her desire to be an organ donor.

Jordan is back in the swing of childhood in a way she has never before enjoyed. And she has a simple message for a few important people.

“Thank you to the nurses and doctors for making me feel better,” Jordan says.

“And I’m glad that my aunt is an organ donor.”

So is her family, and everyone at Geisinger, too.