December 31, 2011
DARBOY — A year after enduring a stem cell transplant that could ultimately save his life, Charlie Knuth, 5, is focused on one thing — being a little boy.
“He plays like a regular kid,” said his mother, Trisha Knuth. “Charlie is happy, the family is happy and he’s not in pain. That’s really what matters right now.”
Charlie has the rare skin disease epidermolysis bullosa, commonly known as EB.
Born without the protein that binds skin together, Charlie’s body once blistered badly inside and out, a painful condition that typically leads to a lethal form of skin cancer. But that was before the Dec. 30, 2010, bone marrow transplant, which helped Charlie’s body produce the missing protein and strengthened his skin.
“He’s one of the kids that made tremendous progress,” said Dr. Jakub Tolar, Charlie’s physician at the University of Minnesota Amplatz Children’s Hospital in Minneapolis. “(Charlie) responded very well and he seems to be on the right track. His organs are functioning fine, and now he’s going to — I would hope — continue to heal.”
Abandoned at birth, Charlie came home with the Knuths from a hospital in Milwaukee when he was 2 weeks old. His adoption was finalized a year later.
Charlie’s remarkable progress has prompted the Knuths to adopt another child who suffers from the same severe form of EB that has shaped Charlie’s life. Trisha Knuth will travel to Washington next week to meet 6-year-old Seth.
“(Seth) is in a group home and he has never had a family,” Trisha Knuth said. “He’s in pretty bad shape.”
She said the outpouring of community support her family received during Charlie’s journey has prepared the family as they enter a new chapter with Seth.
“It’s a lot different this time,” she said. “Before all this happened, we were kind of alone. Nobody knew what was wrong with (Charlie); nobody knew how to help. And now because of all of the publicity and community support, I really feel like we have such a large support system that it’ll be much easier.”
The lesions that once blanketed Charlie’s small frame have largely receded. Just a few patches of fragile skin remain, and those are carefully wrapped with bandages that once entombed most of Charlie’s body.
“We try to leave as much skin as we can exposed,” Trisha Knuth explained. “It seems like the more we can leave exposed, the tougher it gets.”
Tolar said that’s precisely what Charlie’s skin needs to continue healing.
“The idea is to not cover the spots that are open wounds because the usual wear and tear of normal daily life is actually good for it,” Tolar said. “It informs the cells in the bone marrow to travel to the skin and make more of the collagen type 7 (protein) that he needs. There are several cycles of healing that have to occur to get the best result.”
The dramatic changes in Charlie’s life aren’t merely physical. Both his mother and Tolar expressed amazement at the way his mental and emotional well-being evolved as well.
“I can’t even remember the last time he cried in the bath (from the pain),” Trisha Knuth said. “From one extreme to this — it’s profound, it’s amazing.”
And the change in Charlie’s quality of life has rippled to the rest of his family, including his brothers, Alex and Hunter, both 16, and sister, Chloe, 8.
“Let’s put it this way — a happy mom is a happy family,” Trisha Knuth said, chuckling. “Before (the transplant) all of his pain and all of his anxiety was taken out on me because I was his main caregiver, so things were very stressful around the house. Charlie would deal with pain by acting out with hitting and screaming and calling names. He does not do that anymore, so everybody’s just very happy.
“My mom and dad have finally been able to baby-sit for Charlie, and that’s never happened. So me and (Charlie’s father) Kevin were able to go do something on our anniversary for the first time since Charlie was born. That’s a big deal.”
Tolar said it’s too early to tell whether the transplant reduced Charlie’s risk for developing skin cancer, but he said he’s optimistic.
“The model is that (EB patients) get skin cancer because of the enormous irritation of the skin,” he said. “So if you remove the irritation, you will remove the risk of cancer. But it’s going to take a decade or more to actually know if that’s the case.”
Tolar will continue to monitor Charlie’s progress and meet with him at least once a year until he turns 18.
For now, Tolar said, Charlie needs to focus on staying active and growing up as any little boy would.
“He’s as bright as anybody else and probably mature beyond his years because of what he went through and he should be given all the opportunity in life as anybody else,” Tolar said. “That was the whole goal of the transplant — to give him that.”
— Michael Louis Vinson: 920-993-1000, ext. 368, or firstname.lastname@example.org; on Twitter @MichaelVinson
Epidermolysis bullosa is a genetic disease that makes the skin fragile, causing it to blister inside and outside the body.
» EB affects one out of every 50,000 children born in the U.S.
» EB is not contagious.
» The most aggressive forms of EB lead to disfigurement, disability and early death. Milder forms are not lethal.
» There is no cure. EB is treated through wound care and bandaging.
» EB can be diagnosed through prenatal testing.
» You can read more about Charlie’s journey with EB on the website for Pioneering Unique Cures for Kids, a foundation that funds EB Research. http://bit.ly/PUCK-Foundation
Source: The Dystrophic Epidermolysis Bullosa Research Association of America, www.debra.org; Pioneering Unique Cures for Kids