Mom, two daughters same infusion, same day for rare disease

There were varying symptoms with no real diagnosis –until Lisa Barrick’s sixth grandchild was born. It was a pregnancy that changed three lives.

By IU Health Senior Journalist T.J. Banes,

Three women rest in chairs with three IV poles nearby at IU Health Simon Cancer Center. Mom is on the left, her eldest daughter, Tiffany is in the middle, and youngest daughter, Taylor is to the right.

Bundled in a blanket and reclining in the chair, Taylor is lacking energy. Her symptoms are the most pronounced of the three. In fact, it was her third pregnancy that helped the family find a name for the ill effects they have experienced for years. Lisa Barrick turned 52 this month and she’s not even sure when she started feeling bad. She just knows something has always been wrong.

Taylor was pregnant with her fourth child when she began showing signs of protein spilling into her blood and into her urine. Her older sister had similar symptoms during pregnancy. There were other issues too – Tiffany experienced two strokes; her mother has been diagnosed with Lactate dehydrogenase (LDH) and cardiomyopathy. High levels of LDH may indicate tissue damage. Cardiomyopathy is a disease that makes it difficult for the heart to pump blood to other parts of her body. Barrick’s brother had a kidney transplant years ago so the family began to suspect the focus of their problems was related to a kidney disease.

After Taylor’s last pregnancy Barrick began researching the symptoms and feeling certain that all the symptoms were part of a bigger diagnosis. She also began looking for hospitals that offered specialized genetic research.

“That’s when I found Dr. Bryan Hainline and we began to get tested and find a name to put with our symptoms,” said Barrick. IU Health’s Dr. Hainline specializes in medical and molecular genetics. Tests resulted in that name “Fabry disease.” An inherited disorder, the disease is caused by a defect on the “X” chromosome – genetic mutations tend to occur mostly in males and rarely in females. According to the National Institutes of Health it’s estimated that it affects about one in 40,000 males in the United States. The disease can affect various parts of the body including the kidneys, heart and skin. The genetic mutations that cause the disease interfere with an enzyme that processes biomolecules known as sphingolipids. The result is substances build up in the walls of blood vessels and other organs causing the symptoms that Barrick and her daughters felt.

Those symptoms are different for all three but include stomach pain, foamy urine, irritability and anxiety and rapid heart rate. It can also cause ringing in the ears, cloudy vision, abnormal sweating, pain and burning in the hands and feet, and small dark red spots around the belly button and knees.

Under Hainline’s care Barrick and her daughters began infusions of Fabrazyme, a man-made replacement for the enzyme deficiency. They anticipate taking the treatment every two weeks for the rest of their lives. The daughters are also in the process of having their children tested for the rare disease.

“Basically, I got it from my mother, she got it from her mother and so on,” said Barrick. “For years we’ve been treating symptoms and now we are treating the disease. It won’t reverse the damage that has already occurred, but it will slow the progression. Today is a new day. We now have a name. “