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Congenital nephrosis of the Finnish type
Jacob Pettie

Before Jacob Pettie was born, doctors knew something was awry. Symptoms were evident when his mother, Melissa, was about 18 weeks pregnant. “I was having some routine blood work done, and one level happened to come back extremely high,” she said.

Melissa was referred from her hometown of Dothan to Birmingham for a special ultrasound, which led to an amniocentesis. “That showed the same level was also high in the amniotic fluid,” she said. “At that point, they started testing Jacob for everything.”

Test after test was done, but they all came back negative. Doctors began to realize Jacob’s condition was much more rare. “Eventually, one doctor raised the idea of it potentially being congenital nephrosis of the Finnish type,” Melissa said. “They sent off the lab work to be tested—there is only one lab in the entire country that tests for it and it’s in Pittsburgh—and it came back positive.”

Congenital nephrosis of the Finnish type (CNF) is a rare disease characterized by a group of symptoms, including protein in the urine, low blood protein levels, high cholesterol levels and swelling. Although more commonly seen in individuals of Finnish descent, CNF has been reported worldwide. Melissa and her husband, Kevin, were referred to Children’s of Alabama, where they met with a team of doctors, surgeons, nephrologists and a pharmacist to create a plan of action for Jacob’s arrival.

“Everyone, including his pediatrician back at home, knew he was coming and what was wrong, so everyone was prepared for it,” Melissa said. “While it’s obviously traumatic when your child is sick, it was a gift from God that we knew ahead of time and got to prepare for it. Oftentimes, symptoms don’t present themselves until about 4 to 6 weeks of age. Thankfully, doctors caught it early.”

Jacob was born three weeks early on Sept. 26, 2007, and two days later he was transported to Children’s, where more testing was performed. Jacob was put on a special diet to gain weight to receive a kidney transplant. Doctors also inserted a central line to give Jacob albumin infusions. Albumin normally constitutes about 50 percent of human plasma protein and is vital in regulating blood volume.

Before progress was made, Jacob’s kidneys deteriorated to the point they had to be removed. Jacob, who was just 4 months old at the time, was put on dialysis. That continued for about a year until he received a single kidney transplant. “There are always bumps in the road after a transplant, but since then he’s been great,” Melissa said. “You wouldn’t look at him and know that anything was ever wrong.”

Now a fourth grader, Jacob knows another kidney transplant may be in his future. Today, he’s too busy thinking about which sport to play—soccer or baseball—spending time with his big brother, Josh, playing Legos, watching “Star Wars” and enjoying school.

“Jacob has such a kind heart and is such an old soul, which probably came from so much time spent in the hospital,” Melissa said. “We spent so much time at Children’s and in that time they became like family. They gave Jacob not only excellent physical care, but all of us great mental, spiritual and emotional care. At Children’s, it’s complete all-around care.”
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