Family Tries to Educate Others About Rare Disorder After Losing Their Son

By Christena T. O'Brien
Leader-Telegram Staff

March 2011

WISCONSIN -- Ron and Theresa Czubakowski didn't know how long they would have their son, Tommy.

Diagnosed as a toddler with ornithine transcarbamylase deficiency, or OTC, Tommy died a little more than two years ago on    March 10, 2009. He was 25.

"The loss as a parent is beyond words," said Theresa, who is a symptomatic carrier of OTC, meaning she has symptoms of the disease. "The battles we fought to keep Tommy alive were endless."

While their beloved Tommy is gone, Ron and Theresa are still fighting. They had never heard of OTC until their children were diagnosed - their daughter, Jenny, 29, also is a symptomatic carrier of OTC. The couple hope to help people be aware of OTC and help the children and adults who have it.

"We want to see a cure, and if not a cure, a medication that handles the ammonia levels better," said Theresa, who along with her family was wearing OTC awareness bracelets that read "Hugs From Tommy."

In January, Theresa finished taking part in clinical trials for HPN-100, a new drug being studied for use in urea cycle disorders, like OTC, which she took for a year.

Urea cycle disorders are caused by deficiencies in the liver enzymes that help rid the body of ammonia, a toxic breakdown product of protein. When one of the enzymes is missing or deficient, ammonia accumulates in the blood and travels to the brain, causing coma, brain damage and even death.

The exact incidence of cases of OTC is unknown because many cases of urea cycle disorders remain undiagnosed and/or infants born with the disorders, including OTC, die without definite diagnosis, according to the National Urea Cycle Disorders Foundation.

While there is no cure, the treatment of urea cycle disorders consists of dietary management to limit ammonia production in conjunction with medications and/or supplements, which provide alternative pathways for the removal of ammonia from the bloodstream, according to the NUCDF website.

When Jenny was born in 1981, Theresa knew something wasn't quite right with her first-born child. She and her husband were told their daughter, who cried easily and vomited while nursing and then on whole milk, had colic.

Tommy, who arrived in 1983, was very quiet. He developed eczema and was treated, and then he got an ear infection. At 7 months old, he slipped into a semivegetative state for 24 hours and then was in critical condition for several days.

Tommy was a toddler by the time doctors definitely knew he had OTC.

"So little was known about OTC then," Theresa said.

"When (the medical staff) comes in with a book and says pick (out a disorder), you know you're in trouble," said Ron, noting parents often pick up on the symptoms of OTC before the doctors do. He and his wife learned as much as they could about the disorder after their children were diagnosed.

The disorder - while difficult to live with - brought the family of four closer together. In fact, when people see the family today, many still expect to see Tommy with them.

"Tommy always came home no matter how sick he was," Theresa said. "But that last time was different."

Her son died at the University of Minnesota Medical Center-Fairview in Minneapolis. He had developed an ear infection, which got out of control, she said. He then got methicillin-resistant staphylococcus aureus, or MRSA, a bacterial infection that is highly resistant to some antibiotics.

Tommy was on dialysis, had to be on a ventilator and suffered seizures for about eight hours before his family knew the extent of his illness - and then had to make the heart-wrenching decision to let him go.

While they listened to a favorite Garth Brooks song playing in the background, the brokenhearted Czubakowskis surrounded their son and advised him to "go home" - the same thing he had told them each time he was ready to return to their home.

"It hurts because we don't know if we did everything right in the end," said Theresa, who kept a lock of her son's hair.

But she and her husband find some solace in the memories of their son.

Tommy, a Special Olympian who worked at Regional Enterprises for Adults and Children, liked music and to play jokes on his sister. He used to pick dandelions for his mother and ride shotgun alongside his father, and he loved to give hugs and high-fives.

"He was special," Theresa said. "He touched a lot of lives."

Copyright 2011, Leader-Telegram