Mother of sick boy: 'They tell me this is his last good year'

Winter Troia's two youngest children suffer from rare disease known as metachromatic leukodystrophy

January 13, 2011|By KATE S. ALEXANDER |
  • Corbin Troia, and his sister, Alyssa, suffer from a rare disease known as metachromatic leukodystrophy or MLD. The disease most often starts in infancy but can appear in adulthood as well, said Dr. Suhag Parikh, a pediatric hematologist/oncologist and transplant physician at Duke University Medical Center and an assistant professor at Duke University School of Medicine in Durham. The average life span for a child with the disease is five years, with some reaching age 10, he said.
Submitted photo

McCONNELLSBURG, Pa. — Winter Troia does not speak with the voice of a mother going through hell, even when she describes what's happening to her children as a nightmare.

Her tone is steady. Her words matter of fact, even positive at times.

"They tell me this is his last good year," she said of her son Corbin, who, at nearly 3 years old, lives with a rare disease known as metachromatic leukodystrophy or MLD.

Reached by phone at Duke University Medical Center in Durham, N.C., Troia said she was there, not with Corbin, but with her 7-month-old daughter, Alyssa, who also suffers from the same disease.

Characterized by the absence of an enzyme that affects myelin, a fatty material that surrounds the nerves in the brain, the disease degenerates white matter in the brain, deteriorating the nervous system, causing eventual paralysis, organ failure and death, said Dr. Suhag Parikh, a pediatric hematologist/oncologist and transplant physician at Duke University Medical Center and an assistant professor at Duke University School of Medicine in Durham.

The disease most often starts in childhood but can appear in adolescence and adulthood as well, Parikh said. The average life span for a child with the disease is five years, with some reaching age 10, he said.  

Alyssa is presymptomatic and young enough to undergo a radical treatment to provide her with the enzyme through stem cells.

But Corbin has progressed too far for that treatment, Troia said.

"I feel like we are living a nightmare, and we can't wake up," Troia said over Facebook. "It (breaks) my heart knowing that there is nothing they can do (for Corbin)."

With new treatments, like the one Alyssa is receiving, some children can live into adulthood.

"It is imperative that we proceed very quickly with treatment after diagnosis, within two to three weeks of diagnosis," Parikh said.

Parikh said the procedure will replace all of Alyssa's blood with donor blood that can create the enzyme needed for myelination.

If the treatment goes well, the new blood will grow in her body, produce the enzyme and stop the progression of MLD.

For the next year, Troia said she and Alyssa will live in Durham while Alyssa is treated and monitored by Parikh and a team of doctors and nurses who specialize in treating metabolic disorders like MLD.

Alyssa's first day of chemotherapy was Jan. 5, Troia said.  

On Thursday, Troia's Facebook page reported that Alyssa is scheduled to have her transplant Friday.

Chemotherapy should "wipe out" Alyssa's immune system so the doctors can give her a transplant of cord blood, which is from the umbilical cord of a donor, Troia said.

Because cord blood is an "immature" blood with stem cells, it has the highest ability to adapt to Alyssa's body, Parikh said.

On Facebook, Troia posted that the hospital had found Alyssa a "perfect match" from a donor, but that each day the chemotherapy takes a toll on her young body.

Once replaced, the new blood should allow Alyssa to develop and live a fairly long, healthy life, as long as her body does not reject the blood, Parikh said.

"I know that it's FDA (Federal Drug Administration) approved," Troia said of the treatment. "It just has not been done long enough to see the whole-life outcome for a patient."

$1 million treatment

 Blood transplants for metabolic diseases have only been performed for a few decades, Parikh said.

Such transplants for MLD are expensive, and Alyssa's year of treatment will cost about $1 million, Troia said.

That doesn't account for what the family spends on Corbin's treatments, she said.

"Thank God for insurance," she added.

To make matters worse, she said: "I will lose my job in four months. My husband doesn't have health insurance."

Troia detailed how she used medical leave when she gave birth to Alyssa, and with four months of leave left, she and her husband are preparing for when her income and job as a phlebotomist come to an end.

Once Troia is unemployed, the only choice the family has is to pay for COBRA health insurance coverage, she said.

 The Consolidated Omnibus Budget Reconciliation Act (COBRA) of 1985 requires most employers to offer employees the opportunity to temporarily continue their group health care coverage under their employer's plan after losing a job.

Troia said it is difficult for her to be in Durham fighting for Alyssa's life, while back home Corbin's last days slowly tick away without her.

"But it has to be done," she said.

Troia physically is in Durham with Alyssa, but emotionally she also is in McConnellsburg with Corbin as he struggles each day to accomplish simple acts like walking, talking and eating.

For now, her husband, James, takes Corbin and their daughter, Jozalyn, 7, who has not been found to have MLD, to North Carolina on weekends, she said.

Disease misdiagnosed

"If they had only caught his sooner, Corbin could have had this treatment," Troia said.

By the time a doctor diagnosed Corbin with MLD, his disease had progressed beyond the point where a blood transplant could have prolonged his life, she said.  

She told of the numerous doctors who misdiagnosed Corbin, of being told her concern was closer to paranoia than intuition, of how in May an MRI, or magnetic resonance imaging, of Corbin's brain showed evidence of MLD. And how she was filled with false hope when the doctors misdiagnosed Corbin with Guillain-Barre Syndrome, a disease caused by a viral infection.

"In May, he could have had the transplant," she said. "He could have lived a normal life."

Parikh said students are introduced to MLD and other metabolic disorders during medical school, but unless a doctor frequently sees patients who bear the signs of these rare disorders, it is not easy to maintain an ability to recognize and accurately diagnose the disease.  

"What is needed are strong advocates for these diseases," he said. "These are very rare diseases."

Unless awareness of rare metabolic diseases like MLD grows, research, screenings and effective therapies will remain costly and will not reach some children in time, he said.

Because MLD is genetic, Corbin's diagnosis alerted doctors to test Alyssa and begin her treatment early, Troia said.

Troia and her husband could have pushed for Corbin to undergo the same treatment as Alyssa, but the doctors' prognosis for treating him was grim, she said.

"We chose quality for him," Troia said.

Parikh said there is risk involved in treating any child with a blood transplant. Even when a transplant is successful, the progress made by the disease cannot be reversed, he said.  

"They said there was a 20 percent chance he would make it out alive, and if he did, he would be paralyzed," Troia said. "He is going to become paralyzed either way. We didn't want to rush it."

For now, all that is being done for Corbin is regular physical and speech therapy to prolong the years he has and make those years as wonderful as possible, Troia said.

But she is not giving up hope that there is a treatment out there that could help extend Corbin's life.

Despite his struggles, Corbin is a happy, smiling boy, unaware that his body is being ravaged by disease, she said.

"You don't have time with this disease," Troia said. "Every day is a blessing."

'Touched our hearts'

Troia credits her strength to a network of family and friends in Pennsylvania and Maryland who have been holding fundraisers, baby-sitting, arranging transportation for Jozalyn and taking Corbin to therapy.

"It touches my heart and makes me feel good that there are so many people out there who care about my children," she said. "I can't thank them enough. The only help we are getting is from the community."

Samantha Mace, Troia's coworker, said she and some of Troia's other colleagues are hosting a spaghetti dinner Saturday at the Williamsport Moose Lodge to raise money for Corbin and Alyssa's treatments.

The doors open at 5 p.m., dinner begins at 6 p.m. Tickets cost $5.

There will be a cash bar, and dessert will be available through a bake sale to benefit Corbin and Alyssa.

Mace said there will be a silent auction, a raffle and tip jars, all to help raise additional money.

A DJ will provide music for dancing from 8 p.m. to midnight, she said.

Anyone interested in attending the benefit dinner can call Mace at 240-329-6497 to reserve a ticket.  Tickets are limited, but Mace said she will also be selling them at the door.  

When Troia found out that Corbin would not be eligible for a blood transplant, Mace said Troia wondered how a mother could be forced to choose between her children.

"She touched our hearts," Mace said of Troia.

"If that had happened to any of our children, she'd be there for us," Mace said. "We all pretty much stick together; we are like a family."

A benefit fund has been set up at Tower Bank in Winter Troia's name for donations to help pay for the children's treatment, she said. Donations can be made at any Tower Bank branch, a bank representative said.

Thanks to donations, some of Corbin's major costs, like braces for his legs, have been paid for, Troia said.

"When you write your article, can you please tell everyone how much they have touched our hearts, all our hearts, and how thankful and grateful we are? I want them to know," Troia asked.

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