Cord Blood Stem Cells Last Resort for Young Man with Rare Immune Disease

By Katya Cengel, The Courier-Journal, February 6, 2007

On March 3rd, Freddie will celebrate his 21st birthday.

But it may only be the beginning of his life if all goes as hoped.

His parents Shirley and Fred had a decision to make when Freddie was 18 months old. He could either take his chances outside, or live the rest of his life inside a bubble. This was because Freddie’s immune system failed to produce certain antibodies, a characteristic of the rare disease which he was born with.

Given the choice, his parent’s opted against life inside plastic.

"I didn't think I could stand seeing him in a bubble, not being able to hold him, touch him, feed him -- everything a mom is supposed to do," Shirley said.

In order to check his white-blood-cell count, a nurse has come to the family’s home in Vanceburg, Kentucky, three times a week for the past 19 years. If the results of the test are disagreeable, Freddie is restricted to the house and given injections to encourage his bone marrow to create more white blood cells.

"He grew up knowing if he got one really bad disease it would put him under," his mother said.

Living the past 21 years with this fear has influenced Freddie and his family to make the decision to undergo a risky and rare transplant.

"He's just getting tired of life in general," Shirley said recently at University Hospital. "So much hospitalizations and medications."

Freddie is taking a optimistic stance towards the treatment, just like he takes with everything else.

"If it works, it's great. If it doesn’t, it's OK."

Freddie will begin chemotherapy this week and his enlarged spleen will receive radiation in preparation for the transplant which involves umbilical cord blood stem cells taken from two different sources. His home nurse Michelle said that it is an exhausting process, but that he has no alternatives.

"I guess … it's either transplant or die," Michelle said.

Freddie suffers from hyper-IgM syndrome, a condition that Dr. Rebecca at Duke University Medical Center has been studying and treating for over 30 years. She said that there is no screening for the disease and so neither she nor anyone else knows how many people suffer from this condition.

Rebecca said that abnormal genes that cause many immune deficiency diseases were only first identified within the last decade or so. This may explain that even though it was not the usual treatment for his condition, Freddie’s parents were still given the choice of putting him in a germ-free bubble environment.

"There are very few documented cases of his type of immune deficiency in the world," Michelle said. "And no other cases around this area at all like him."

Michelle has been treating Freddie over the past seven years, and the two have become close friends. He sometimes goes fishing with her husband or plays video games with her children when he is well.

But raising the risk of infection, Freddie’s white-blood-cell levels have been dropping more often for the past six years said Shirley. This had made it more complicated for Freddie to enjoy time fishing or playing games.

After his white-blood-cell count dropped even further in November, Freddie went into University Hospital. Rebecca said that the ideal treatment at the time would have been a bone marrow transplant from a sibling or a positive donor match. But Freddie has no brothers or sisters and finding bone marrow donors can be difficult.

But, Two cord blood stem cell matches were found at the same time. Collected soon after birth, cord blood stem cells are extracted from the baby’s umbilical cord. Transplants using cord blood have been utilized since 1988, but finding a double match doesn’t come along often.

"The problem with an unrelated donor, which is what cords are, is the high risk of graft-versus-host disease," in which the cells from the donated marrow or cord blood attack the body of the transplant patient, Rebecca said.

The likelihood of success with a double cord blood transplant is "anyone's guess" because they are so rare she said.

The director of the blood and marrow transplant program for the University of Louisville is Dr. Roger. He is the man who will do the transplant at University Hospital and did not want to talk about the case until after the procedure.

When Freddie was a kid, the fall and spring afforded the luxury of school. He never had to attend during the cold winter season. As soon as he could fish and hunt, he followed his father around the family farm to do just that.

He had to pay the usual cost of being in large crowds when he graduated high school with all his friends in 2004. He spent the next day at the hospital. Sporting events, restaurants, church; they are all off limits.

Every few weeks he has to undergo procedures in his house that last anywhere from four to seven hours. To reduce the number of antibodies he has too much of and replace the ones he's missing, a home nurse has to administer immunoglobulin infusions.

Having pets inside is forbidden, and family members have occasionally spent the entire holidays hidden behind surgical masks. And with as much time as he spends outside, his hospital stays are normally of the same duration.

Freddie remains upbeat through everything says Michelle. He loves to talk about all the bets he has won in college basketball, and his favorite teams are Kentucky and Louisville. The muskie he caught last May always lead towards good conversation. But not wanting to dwell on what he cannot control, he clams up when the talk is about his illness.

"It amazes me," Michelle said. "He's got a very strong will, which is wonderful, because it is going to take that."

While at the hospital, he reprimands his father for wearing work boots in town and tries to get nurses to bet on his card tricks.

"You can take him anywhere and he'll find a way to make somebody ... like him," said his friend Jeremy.

Freddie looks slightly younger than his 21 years. He wears race-car pajama bottoms and is rail thin even though he eats constantly to nourish his 6-foot-1 frame.

He wants to be a local truck driver, but there was a time when he dreamed of getting a college degree and becoming a state trooper. In order to be closer to his son during frequent hospital stays, his father quit his truck-driving job when his Freddie was a toddler.

His mother has decorated the hospital room with pictures of him when he was little, holding fish and other critters he was able to catch when younger. Even earlier than her husband, she gave up her job as a bus driver to take care of Freddie.

"She has absolutely devoted her life to him," Michelle said.

Freddie’s treatment and recovery could take months, so Shirley rented an apartment in Fairdale to be closer to her son during that time. The apartment is a considerable cost, but worth it for Shirley so her son is only a stones throw away. Her husband visits frequently but has to stay in Vanceburg to look after the family farm. Making this added difficulty easier is the fact that the state Medicaid program has covered the majority of Freddie’s medical treatment.

For Freddie’s 21st birthday, the family had planned to go gambling but that was prior to the transplant arrangement. He was disappointed that he wouldn’t be able to go, but while voicing his opinion on the matter his father expressed his mantra he uses whenever the conversation deals with the transplant procedure – “it will work.”

“Freddie will be the first to tell you that if the transplant doesn't go right he could die, and he's ready for that," Shirley said. "I think he's more ready for that than I am."