To view this site, you need to have Flash Player 9.0.115 or later installed. Click here to get the latest Flash player.
(Ally Donnelly, NECN: Boston, MA) - A Boston hospital has received a grant to establish the world's first-ever center to study orphan diseases. An orphan disease is any disease or disorder affecting less than 200,000 people in the United States. Because the disorders affect so few, researchers have a difficult time getting government or private funding. But as one Massachusetts family knows -- research can make the difference...between life and death Andy Trevino just wants to play air hockey. Being dragged back to this hospital playroom and having a camera stuck in his face is not making things easier. It's understandable that he's a little shy. The 8-year-old Sudbury, Massachusetts boy has had all the extra attention he needs in his young, tumultuous life. Paulina, Mother: Two days after he was born, he got a fever and I thought, well, give him some Tylenol or something and that's it. Unfortunately that would not be it. Andy -- born in Mexico City -- had a blood infection and would stay in the hospital's ICU for more than two weeks. When his parents finally brought their son home, they were not out of the woods. Andres, Father: First it was a stomach infection then a central nervous system infection also known as meningitis, then he had pneumonia... His infections were life threatening. Mexican doctors ran every test they could think of... But again and again they came up empty. Paulina: It hurts a lot to see nurses and people poking at him all the time and watching him crying... Andres: They were telling us that he had bad luck and we didn't take that for an answer. The Trevino's had spent 375 days in the hospital in Mexico. Their money was dwindling, but not their hope. They had heard that Boston was the best -- so they came here, to Children's Hospital -- desperate for a medical miracle. The moment we stepped into the ER, it felt safe. The Trevino's met with a team of doctors and researchers at the renowned teaching hospital, which immediately went to work. The team soon discovered that Andy had a rare congenital disease. A glitch on one of his genes -- known as Nemo -- wasn't allowing his immune system to battle infection. Alan Beggs, Children's Hospital: Because they had seen a large number of patients with an immune deficiency, they were able to predict what his defect might be and identify it for his family. The family had few options. They could make Andy comfortable with medication, knowing his disease was terminal. They could get a transplant to replace his immune system or they could try and replace Andy's faulty cells with healthy cells from a new donor. Unfortunately, they couldn't find a match trough the public donor registry for an immune system transplant and to replace Andy's unhealthy cells, they'd need a perfect donor -- like a sibling -- and Andy was an only child. Andres: She was born March 14, 2004. Though they knew some people would question their ethics, the Trevino's --- who had always planned on more children -- had Andy's sister -- and savior --- Sofia. Andres: The first sound I heard when she cried were just the most incredible sound I've ever heard. Children's doctors were able to take Sofia's bone marrow cells and infuse them into Andy's. Her healthy cells replaced his bad cells and his immune system rebuilt itself. Andres: To see that he's cured, it's just...incredible. Andy had what is known as an orphan disease -- a disease that affects less than 200-thousand people in the United States. Beggs: In fact there may be only a few hundred patients or only a few 10s of patients with any particular disease, so it takes a center that sees a number of these things to bring these cases together. Alan Beggs runs the new Manton center for orphan disease research. Established with a recent 25 million dollar gift to the hospital, it creates a dream team of researchers to work collaboratively. The hope is that findings in the lab can translate into treatments in the field. Treatments not only for orphan diseases -- which are historically under funded, but a wide spectrum of conditions from cancer to Parkinson's. Take for example the stem cell researcher who has made significant advances in his own field. He can create cells that could regenerate muscle for some of my patients or maybe regenerate nerves for some of the neurology patients and so on. When the Trevino's came to children's in 2001, there was no Manton center, but they say their support will never waiver. Andres: once they learn about it, they take it to the clinic and once they take it to the clinic they help more children and at the end of the day they save more lives. More lives....like Andy's. He is now a thriving third grader who loves nothing more than playing with his best friend....his sister.