Strongsville Teen Lives with Rare Disease

Sitting in his back yard with his family, 15-year old Trevor Mancuso says, “I think I would just want people to know that I’m like everyone else and I don’t want to be treated differently.”

In most ways Trevor is like a typical teen. He hangs out with friends, swims in his backyard pool, plays with his dog and yes, fights with his siblings.

But Trevor is different — almost unique, in fact — in that he is living with a disease that is so rare that some doctors have never even heard of it.

Trevor has Diamond Blackfan Anemia, a disorder in which the bone marrow fails to produce red blood cells. Worldwide, only about 25 new cases are diagnosed each year.

Trevor was diagnosed as a toddler. His mom, Carol, noticed that he was a bit pale and lethargic, but never suspected a serious illness.

Trevor’s pediatrician ordered blood tests and called the next day with alarming instructions: Bring Trevor to the emergency room immediately.

“His red blood cell count was so low they thought he might go into cardiac arrest,” recalls Carol Mancuso. “It was unreal. I thought, how did we go from looking a little pale to this?”

At first, doctors suspected leukemia, but a bone marrow test proved negative. Getting a diagnosis of DBA came about by eliminating a host of other forms of anemia and other diseases, though it was later confirmed in a research lab through genetic testing.

As DBA goes, Trevor is one of the lucky ones. Some patients develop bone deformities or heart and kidney problems. Some require regular blood transfusions, or even experimental bone marrow transplants.

In Trevor, however, a steroid regimen stimulates red blood cell production. The medication has few side effects, but it has slowed Trevor’s growth.

Trevor’s treatments are managed by hematologist Dr. Brian Berman at Rainbow Babies & Children’s Hospital, who consults regularly on Trevor’s case with one of the country’s few DBA specialists, Dr. Jeffery Lipton at the Cohen Children’s Medical Center of New York.

Because DBA is so rare, there is little funding for research, which families like the Mancusos find frustrating.

Five years ago, Jim and Carol decided to become involved in the Diamond Blackfan Anemia Foundation. Without major corporate sponsorship, most of the funding for DBA research comes from parents, which is why and Carol decided to hold a fund-raising golf outing five years ago.

“We were warned not to get our hopes up, so we thought, well, even if we only raise $1,000, that’s fine,” she recalls.

They raised $13,000 that year, and have raised more than $51,000 in the course of four years, $1,000 of which has come from auctioning paintings by Trevor, a talented artist.

“The exciting frontier for DBA is gene therapy,” says Jim, “and we are part of that, which is rewarding.”

“People ask me why I do this,” says Carol, a part-time exercise instructor who works on the golf outing for most of the year. “I don’t have a choice. This is my child’s life.”

But Trevor, who also works on the event, doesn’t see it that way.

“Other kids are sicker. I don’t need that much help, but I like that we are helping people who need it more.”

The Fifth Annual Friends of DBAF Golf Outing and Silent Auction will be held Sept. 17 at Cherokee Hills Golf Club in Valley City. The event includes 18 holes of golf with a GPS cart, boxed lunch, appetizers, dinner, silent auction, a DJ and dancing and cash bar. Cost is $100, or $35 for dinner only.

Visit the family's Facebook page, call 440-572-8247 or email c-mancuso@sbcglobal.net for more information.