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A girl's life is shaped by sister's death

Posted on 12/04/2009 12:00am

North Shore News

By Jessica Barrett

Lisa and Frank Fedorak had long dreamed of becoming parents.

"I always told Frank I wanted to have six kids," chirps Lisa, a striking woman with bright blue eyes that contrast her dark hair.

Strolling down Lonsdale Avenue in the tentative warmth of a spring breeze, the 38-year-old North Shore resident appears well on her way to building the happy, healthy family she envisioned. Lisa has those preternatural multi-tasking skills unique to parents with young children. She seamlessly maintains conversation while pushing three-month-old Greta in a stroller and keeping close watch over the downy-haired preschooler darting across the sidewalk.

"She could do this all day," she says, nodding toward daughter Scarlett, clad in a pink coat embellished with the occasional iridescent sequin. "As long as she can run, she's happy."

Watching Scarlett scamper along the pavement, you wouldn't think the rambunctious little girl was any different from other children her age -- unless you looked closely and noted the thin scar just above her collarbone. It's virtually the only outward sign that, at just 3* years old, Scarlett has defied overwhelming odds and seems to be winning the fight of her short life.

Scarlett has Krabbe disease (globoid cell leukodystrophy), a rare degenerative condition affecting only an estimated one in 100,000 births in North America and Europe.

Though rare, Krabbe (pronounced krab-EH) is a particularly cruel and rapidly progressing disease afflicting one in four children in families where both parents carry an uncommon genetic mutation. There is a 25 per cent chance children of such couples will be unaffected and a 50 per cent chance they will be asymptomatic carriers like their parents -- that's the case with Scarlett's little sister, Greta.

Children born with Krabbe lack a crucial enzyme known as galactosylceramidase, or GALC. Without the enzyme, the body begins breaking down myelin -- the fatty substance that insulates nerve fibres and brain cells -- damaging the peripheral and central nervous systems. As the disease progresses, toxins build up in brain and nerve cells, causing seizures, loss of motor skills, blindness, deafness and, typically, death before age two.

Lisa and Frank know the heartbreak of Krabbe well. Scarlett, though their oldest child, is not their first.

Chloe Isabel Fedorak was born Feb. 5, 2001. Lisa and Frank immediately fell in love with their daughter and relished every developmental milestone. At three weeks Chloe held up her head, at one month she was smiling and at two months their first-born was sleeping through the night. But as Chloe got older, her development stalled.

"She started regressing," remembers Frank, 37, on the phone from his job at a provincial court registry. "She was able to hold her head up and then she started not being able to hold her head. We just thought she had a virus or something, but the doctor said babies don't lose skills. Ever."

A visit to a neurologist confirmed every parent's worst fear: there was definitely something wrong with Chloe. Krabbe, a fatal disease, was the most likely diagnosis.

Distraught, the Fedorak's sought information on the condition they had never heard of and had no idea they carried. "It was probably one of the worst days of my life," Frank says. "We took out a book on diseases and found Krabbe and it just said death, death, death all over it."

In their research, the Fedorak's found that there was only one treatment available for Krabbe -- a risky and invasive procedure called a cord blood stem cell transplant. The procedure worked by engrafting blood cells taken from the umbilical cord of a non-related baby into a Krabbe-affected infant.

But further heartbreak followed when they realized that, at just seven months, the damage to Chloe's nerve cells was irreversible. She was not a candidate for transplant.

"It's different for every child, but the rule of thumb is that if you don't know beforehand, it's almost too late," Frank explains.

The reality was stark: there was nothing they could do for Chloe that could bring back her smile, her appetite, her ability to discover the world. All they could offer her was palliative care and watch her slowly slip away. Chloe died on Dec. 2, 2002. She was 22 months old.

The pain was immense. They had lost their first child and their chance at having a family, or so it seemed.

"After Chloe passed away, I never wanted to go through that again," says Lisa. "I said, 'We'll just have to be without kids,' because all the alternatives seemed horrendous -- like I just couldn't go through that."

Years later, however, the Fedorak's learned they were expecting another baby girl affected by Krabbe.

The decision to conceive naturally was one the couple arrived at after exhausting several other options. Artificial insemination proved unsuccessful, and adoption too expensive. It was Frank who made the case to try for another baby. "I pretty much decided that 75 per cent was better than 25 per cent -- because that's the chance of it happening again."

The way Lisa remembers it, they weren't really trying to conceive, but they weren't trying not to. Being open to another baby was one way of working through the pain of losing Chloe.

"Grief is a funny beast," she explains, "I said that I never wanted to go through this and I didn't want to have another child because I didn't want to put another baby through that. . . . I wanted a baby more than anything and at the same time I knew what we were facing. Sometimes you just let go. You let things happen, you let the moment carry you away and it leads to where you weren't expecting to go."

They took the gamble and found themselves once more on the wrong side of the genetic lottery, but thanks to the lessons learned through Chloe's illness and death this little girl had a fighting chance. Still, it didn't make Scarlett's diagnosis any easier to handle.

"Losing my first daughter, that was horrendous, I wouldn't wish that on anybody," Lisa says. "But hearing that diagnosis for the second time, that was hard -- like my heart had been ripped out of my body."

The couple now had to make a difficult decision. There were only three options for Scarlett: terminate the pregnancy, let the disease run its terrible course, or subject her to a risky treatment with no guaranteed results.

After a great deal of soul searching and deliberating, they opted for the transplant. Frank was sure Scarlett would come through with flying colours. Opposition from doctors who urged them to "really think about it" only made them more resolute.

In hindsight, Frank says, they were probably a little na?ve about the treatment. "At that point, we had thought that the kids from the transplants were doing better than they were," he admits.

It was true that kids were escaping Krabbe's certain death sentence by undergoing the transplant, but the process was, and is, far from perfect. Only about 20 newborns worldwide have been treated for Krabbe through cord blood stem cell transplants. Most have been done at Duke University in North Carolina under the supervision of Dr. Joanne Kurtzberg, an expert in the field.

While successful transplants delay the onset of Krabbe, most recipients show symptoms over time -- largely affecting gross motor skills and impeding the ability to walk. Frank says a lot of the kids who have undergone the procedure use walking aids or wheelchairs. The treatment is so new that the long-term prognosis for transplant recipients is unknown. So far, the oldest recipient, an 11-year-old American boy, is doing well but uses a wheelchair to get around.

To be effective, the transplant must be done almost immediately after birth. This means parents and doctors have to know to look for the condition before a baby is born, or catch it within days after. A handful of American states have included Krabbe in compulsory newborn testing, and at least one baby has undergone the transplant as a result, but in most places, including Canada, there is no screening process.

As a result, most eligible babies come from families with a documented family history of the disease -- meaning the parents have already lost an older child.

Pregnant with Scarlett, the Fedorak's turned to pediatric oncologist Dr. Kirk Schultz at B.C. Children's Hospital and set about preparing for the gruelling treatment that would last nearly a year. Scarlett would be only the second Canadian child with Krabbe to undergo the transplant procedure, the first in British Columbia.

Through in utero testing, Schultz was able to find a suitable donor from an American cord blood bank and was ready to take action at the first opportunity.

"We did a transplant as soon as we could safely do it after Scarlett was born to minimize the amount of damage occurring inside her nerves," Schultz says via phone from the United States while away on business.

Schultz waited 16 days to allow Scarlett's liver to adjust before starting her on high-dose chemotherapy. He needed to destroy her immune system and ready her body to accept new cells containing the crucial enzyme.

Schultz has a good analogy for Krabbe. The absence of GALC, the missing enzyme, creates a sort of traffic jam in the cell. Substances are going in, but they can't get out. "You have a downtown traffic jam and nothing is going out because the stoplight is on," he says. "It's a bigger and bigger traffic jam inside the cell and eventually it just can't work any more. You need the signal to turn the light from red to green." GALC is that signal.

What Krabbe-affected kids really need, Schultz says, are new nerve cells, but the medical science just isn't there yet. Blood cells are the next best thing. "What they do is they go and sit next to the nerve cells, and they make the enzyme alright," he says. "The blood cells produce the enzyme and go outside the blood-making cells and the nerves try to pick them up."

It's not a cure, but it's the best option out there, Schultz says. The key is doing the transplant before babies begin exhibiting symptoms, which is why Chloe could not be treated.

"The enzyme is not working even when the baby is developing inside the mom," Schultz says. "The problem is if you find a child that's already got symptoms, there's so much that's accumulated inside the cell that you can't come back from that."

For the first three months of her life, Scarlett was confined to a tiny hospital room where she received treatment. At just 3.2 kilograms, machines dwarfed her tiny body and a tangled mess of tubes pumped chemo into her neck and chest through central lines. Lisa literally never left the room. Frank still had to go to work, but would visit the hospital every night, staying late into the evening. He'd do it all again the next day.

Bringing Scarlett home, tubes and all, was another terrifying ordeal. "We had to do everything," Frank remembers. "It was just two people, not really experienced in this, making sure that she didn't rip these things out of her chest." Several complications landed Scarlett in the intensive care unit, fighting for survival.

Finally, at one year old, Scarlett was weaned off her myriad medications and the tubes were gone. She began the long struggle for normalcy.

"She had no muscle tone, she hadn't gained back her birth weight at that time," Lisa says, describing Scarlett at one year as about the size of her now three-month-old sister, Greta.

With the help of a physical therapist and a speech therapist from the province's Infant Development Program, Scarlett started gaining strength and muscle control. When she turned three, her support services transferred over to the B.C. Centre for Ability, where she has continued to thrive. Her progress has so impressed staff at the centre, that the organization has honoured her with their Hero of Ability award for 2009.

Although Scarlett continues to have some muscle weakness, she has almost caught up to her peers. She can run, jump and is learning to ride a bicycle. Lisa chalks it up to her sheer will and determination -- personality traits that have not escaped the attention of her therapists and doctors.

Still, Scarlett remains a medical mystery and her future is uncertain. Her annual MRI scans show that there has been damage to her myelin sheath, yet Scarlett shows virtually no signs of her disease. Because of this phenomenon, she'll be featured in a medical study to be published in the coming months.

Dr. Schultz, her oncologist, confirms that Scarlett is doing remarkably well, but stops short of saying she's out of the woods for good. "I have a very cautious optimism," he says. "This is so unusual and rare it is really impossible to say how it will play out down the road, but we do know that what we've done will delay the Krabbe Disease."

For Lisa and Frank, focusing on Scarlett's uncertain future is a waste of time. Rather, the family is concentrating on the next challenge, one they haven't encountered before.

Scarlett is due to start preschool in the next little while. Her parents will have to take a step back and watch their daughter venture into the world on her own two feet.

For more information on the Fedorak's struggle with Krabbe Disease visit www.chloeisabel.com, Lisa Fedorak's personal log of dealing with the disease. More information on Krabbe, newborn testing and cord blood stem cell transplants is available through the Hunter's Hope Foundation www.huntershope.org.

© North Shore News 2009