Maria Alias had no idea what nephrophthisis meant when she brought her two sons, Safie and Najib, from Malaysia to America in 2005.
But she learned very quickly in the summer of 2011. The boys’ father noticed that Najib, then 6, had uncontrollable tremors in his hands one morning in July when Maria was out of town. By the time she returned, Najib had been given the strange-sounding diagnosis at Children’s. It meant his kidneys were failing him.
She didn’t even have time to process Najib’s diagnosis when 8-year-old Safie developed a continuous nosebleed in August. She and her husband knew by then that nephrophthisis was genetic.
So, instead of taking Safie to the closest emergency room to their Kaufman home, they brought him directly to Children’s, assuming he had the same disease as his brother. And their assumption was right.
The boy’s nephrologist at Children’s, Dr. Katherine Twombley, had never seen anything like it. Out of the hundreds of patients she had treated for various kidney ailments, she’d never had two brothers with nephrophthisis. And the fact that both presented within a month of each other made their situation even more unusual – and challenging for their mother.
“It was very difficult to deal with,” Maria said. “But I didn’t have a choice.”
Come back to our blog tomorrow morning to learn how the Children’s team is helping Maria take care of her two boys.