Fundraiser helps Pa. family affected by rare disease

November 27, 2011|By JENNIFER FITCH |
  • Corbin Troia, left, has a disease that degenerates white matter in the brain, deteriorating the nervous system, causing eventual paralysis, organ failure and death. His sister Alyssa, right, died Oct. 30, 2011, from complications from the disease.
Submitted photo

MERCERSBURG, Pa. — Doll Amsley remembers her 16-month-old great-niece blowing her kisses the last time she saw the girl alive.

Alyssa Troia succumbed Oct. 30 to the genetic disease she battled throughout her young life. It’s the same disorder diagnosed in her older brother, Corbin.

Amsley organized a bingo Sunday at the Mercersburg Sportsmen’s Club to benefit her niece’s family. As they arrived for the event, family and friends offered encouragement to Alyssa’s mother.

“If you met her, she’d have your heart in the first five seconds. She showed you how to love,” said Winter Troia, Alyssa’s mother.

Amsley, of Chambersburg, had started preparations for the bingo before Alyssa’s death.

“We’re a close-knit family, and we’re trying to each take our turns doing fundraisers,” Amsley said.

The Troias, who live in McConnellsburg, Pa., need continued support because of 3-year-old Corbin’s care, Amsley said.

“It’s the fundraisers that got us through this,” Winter Troia said.

Winter Troia said she and her husband, Jamie, were unaware they carried a gene for metachromatic leukodystrophy or MLD.

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, N.C., said in a previous interview the disease is debilitating.

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, Parikh said in January.

The Troias’ oldest child, 8-year-old Jozalyn, does not have MLD. But, when he was 18 months old, Corbin was diagnosed with MLD after showing symptoms.

Doctors tested Alyssa despite her not showing symptoms. She tested positive for MLD and underwent a cord blood transplant at Duke University, with follow-up care handled by Hershey (Pa.) Medical Center.

She’d seem fine for weeks and then bloodwork would reveal serious problems, her mother said.

Winter Troia said she is very thankful for community support.

A fund in the Troia children’s names was established through Tower Bank. Donations can be made at any branch.

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