Wrapped in Love (continued)

Another Procedure

As Abbi got older, her need for those specialists became ever greater.

Abbi had begun to develop strictures – or blisters – in her esophagus. The strictures made swallowing extremely difficult. She had constant vomiting spells from the age of 2 until she turned about 3 1/2. Chrishana said.

EB clinic specialists knew the answer: Abbi needed a dilation – a common procedure for children with dystrophic EB. In a dilation, Michael Narkewicz, MD, inserts a lighted flexible tube (endoscope) through the EB patient’s mouth into the esophagus. A wire is passed through the narrowing of the esophagus and a special tube with a balloon on the end is placed across the narrowing. Dr. Narkewicz quickly inflates the balloon, watching on an X-ray, to stretch the esophagus and make swallowing easier.

Doctors can’t use adhesive on EB patients, because it will pull the skin off. Doctors also must thread the breathing tube through the nose because threading it through the throat would cause too much trauma. The tissue inside the nose is not the same as outer skin or the skin inside the mouth, said pediatric anesthesiologist Geoffrey Lane, MD, who became known as the “EB guy” at a Michigan hospital when he pioneered a new method for anesthetizing EB kids.

Dr. Narkewicz does all the dilationsof children with EB at Children’s – 20 to 30 patients a year – with Dr. Lane. Dr. Narkewicz is a member of the Department of Pediatric GI/Hepatology/Nutrition, medical director of the Pediatric Liver Center , professor of Pediatrics and Hewit/Andrews Chair in Pediatric Liver Disease.

Although the process isn’t painful, Dr. Narkewicz said, it is a short-term fix.

Some children with dystrophic EB require dilations every two to three months, he said. Others need them once a year or even once every two years.

“One-third of patients have to have a dilation at some point,” he said. “Our goal is to make their lives pleasant and minimize the chance of a complication from the procedure.”

But after Abbi had two more dilations, it became clear that she needed another answer.

The Disease Becomes More 'Real'

Abbi was having more and more trouble with swallowing. She was barely eating anything. Children’s Chief of GI, Judith Sondheimer, MD, recommended a gastrostomy tube (G-tube), a tube that’s inserted into the opening of the stomach. With a

G-tube, Dr. Sondheimer said, Abbi could get her nutrients and medication without having to swallow them.

But Chrishana wasn’t so sure.  

“I was against it,” she said. “I thought it would completely immobilize her. I thought it would make the disease more real. If I was to give in, it’s like saying ‘this is really happening.”

But little by little, Chrishana realized a G-tube would only help Abbi. So at the age of 4, Abbi got one, Chrishana said.

Abbi’s vomiting episodes became much less common, and feeding and medicating her got easier, Chrishana said.

But Abbi, now 6, still faces many other problems. In March of this year, she developed a blood infection and spent at week at Children’s.

Her strictures continued to be a problem. Since her first dilation two years ago, Abbi has had five more. After her dilation this summer, Chrishana said Abbi’s esophagus was the size of a sharpened pencil lead.

“For kids with dystrophic EB, this is just something they have to have done,” Chrishana said.

A Normal Little Girl

But despite the constant medical issues, Abbi is just a little girl on the inside.

Many EB kids are home-schooled because of the pain and other medical issues. Chrishana and longtime friend and roommate Wendy Hansen debated home-schooling Abbi, but decided the socialization and interaction with other kids were too important.

Abbi is unlike other kids with dystrophic EB in other ways as well. She is now a kindergartner at Creekside Elementary who loves to ride her horse, Dusty Rose. She competes and has won two ribbons. She loves to swim with her bandages on, and loves playing with her dolls – always naked, Chrishana said.

“I think it’s her way of dealing with the fact that she’s never naked – she can’t be,” Chrishana said.

Abbi is open and honest about her disease. On the first day of her preschool class, she got up in the front and gave a speech.

“In her own little words, she says, ‘I have a skin disease, this is what happens, please don’t yank on me, because my skin will come off. I might bleed, but please don’t be afraid of me. I want to play and I want to be just like you,’” Chrishana said.

There are days when Abbi doesn’t feel well enough to go to school. On those days, her school, in the Cherry Creek district, sends a home health-care worker to the house.

But no matter how bad she feels, Chrishana and Wendy won’t let Abbi use her disease as an excuse.

“I tell Abbi, ‘You can do this; we can do this together as a family,” Chrishana said. “The first time I ever hear her say ‘I can’t do this because of my EB,’ we’re going to have a long talk. Don’t say ‘I can’t do it,’ because you can do anything you want.”

The reason Abbi is doing so well, Nurse Deb Bracken said, is precisely because of her mother’s positive attitude.

“Abbi’s disease is probably worse than a lot of the EB kids,” she said. “Part of the reason she’s doing so well is her mother. Abbi’s just a kid. Yes, we have to put special shoes on her and do dressing changes, but she’s just a kid. She’s amazingly normal.”

Chrishana “is a fabulous, great mom,”

Dr. Arbuckle said. “She’s my role model of how every mom of an EB child should be. The parenting and support system Abbi has is amazing. She’s a well-adjusted kid with a very bad disease.”

A Better Future

Over the years, things have gotten easier for children with dystrophic EB. Silicone dressings have replaced Vaseline gauze, which stuck to wounds.

Another innovation is Dermagraft, Bracken said, a sort of substitute skin derived from the foreskin of circumcised baby boys.

“We’ve used it on kids who have wounds that haven’t healed in years and their wounds are healing,” she said.

The new skin, created to heal diabetic foot ulcers, lasts for eight months to three years, she said, but is “hugely expensive,” she said. In addition to the new dressings and Dermagraft, gene therapy holds promise for the future. Doctors on both coasts are trying to establish ways to correct or replace the gene that is abnormal in children with EB, Bracken said.

Dr. Narkewicz said steroid therapy is a possibility for EB kids; there’s even some debate about doing a multicenter trial, he said, of which Children’s would be a part.

But until there’s a cure, Abbi faces a long road ahead.  

Children with EB often end up with contractures – because of the scarring, their fingers often end up bent, almost like claws. Their fingers and toes can web together. Their vision can worsen because of the scar tissue in their eyes. The corners of their mouths can fuse together.

“Abbi has gone through more in her childhood than any person should ever have to go through in their whole lifetime,” Chrishana said.

But even though Wendy, Chrishana and Abbi’s brother Bryce struggle with EB every day, they get more back from Abbi than they could ever give.            

“A lot of people are like, ‘how do you deal with this?’” Wendy said. “But once you meet Abbi and realize how much a child like this can teach you about your life, how much courage she has, how much she inspires people, it puts a lot in perspective. I’ve never learned more from anyone in my life than

I have from a 6-year-old. She’s amazing.

She does a lot more for me than I could ever do for her.”

“A lot of everything in life is how you choose to deal with it,” Chrishana said.

“EB is definitely a huge part of her life, but you know what? It doesn’t have to be everything.”

For more information about EB, please call (720) 848-0500 or go to www.debra.org.

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