BATH, Pa. - A mother and daughter in Northampton County are going through a journey to which few others can relate.
Mary Fenon and her eight-year-old daughter Mackenzie have a rare syndrome --so rare Mary said they are the only two people with it in the United States and there are only eight other females with it in the world.
"The actual name for it is autosominal dominant gene disorder with renal and anogential malformations with syndactyl, aka STAR," said Mary.
"I still can't believe there's only 10 people in the whole world," she said.
Mary's case is mild; she had a minor surgery as a baby. Mackenzie's, however, is on the extreme end of the spectrum.
"STAR is just a collaboration of all of her characteristics, everything from the severe urine reflux of her left kidney to syndactyly, both of her feet, her toes are fused together," Mary explained. "STAR Syndrome is mainly affecting the way she goes to the bathroom."
Mackenzie said, "It's frustrating because I'm the only one and the United States is really big."
STAR Syndrome is diagnosed through a DNA test, said Mary, and theirs was sent to a doctor in Germany who she said founded the syndrome in 2008.
The family has gotten used to frequent trips to the Children's Hospital of Philadelphia and are looking forward to an upcoming surgery in July to help Mackenzie.
"I'm very happy about it," said Mackenzie. "I'm excited that I don't have to have diapers anymore."
It's not easy having such a rare syndrome.
"People can relate to a degree in regards to having a colostomy bag or doing something similar to what Mackenzie has to go through, but to have all of the characteristics together in one, it's hard to kind of understand," said Mary.
Mackenzie has been able to be active in sports and activities.
"I am who I am, nobody's going to make fun of me about that," she said.
Mary wants to spread awareness and offer encouragement to others.
"Don't ever stop looking for an answer. I never did and I'm glad I didn't," she said.
Allentown, PA 18102
- Lehigh Valley 69 News