Children’s Hospital patient Joseph Huseby will represent Tennessee in the 2007 Children’s Miracle Network Champions Across America program.
Photo by Kats Barry
Newest ‘child champ’ beat rare disorder
Joseph Huseby isn't old enough to realize how remarkable he really is.
When he was just six months old, he was diagnosed with an extremely rare and often fatal immune deficiency called Chediak Higashi Syndrome.
After a life-saving bone marrow transplant, Joseph, now 3, is considered cured and was selected to represent Tennessee in the 2007 Children's Miracle Network (CMN) Champions Across America program.
This is the second year a patient from Children's Hospital has been selected to represent the entire state. Last year, leukemia patient Katie Vacanti-Mitchell served as Tennessee's child champion.
“I am thrilled that a Children's Hospital patient has been chosen to represent the state. This is an incredible honor for Joseph, his family, and Vanderbilt Children's Hospital,” said Lisa Dill, director of the CMN for Children's Hospital.
Joseph was diagnosed with Chediak Higashi Syndrome by Michael Smith, M.D., a pediatric dermatologist at the Children's Hospital, when he was brought to Children's Hospital because he had hyper-pigmentation (skin is darker in some areas) on his cheeks and arms.
Smith noticed Joseph's hair was a silvery gray, which is another symptom that pointed toward Chediak Higashi.
"I asked the family to let us get some tests and more information before they tried to look for information about it,” Smith said.
Tests confirmed he was correct. Smith said he remembered hearing a lecture about the condition years ago. Chediak Higashi Syndrome is extremely difficult to diagnose. There is little existing research and most children go undiagnosed (or are misdiagnosed) until it is too late, and often die from a severely weakened — sometimes completely non-functional — immune system.
According to the Chediak Higashi Association, there are only a handful of children — probably fewer than 20 — currently living with the disease in the United States.
Haydar Frangoul, M.D., associate professor of Pediatric Hematology, and doctors from the National Institutes of Health and other Children's Hospitals were consulted about possible treatments for Joseph.
Frangoul said he had only seen one other case of Chediak Higashi Syndrome in his career. He sought out a donor for the only treatment that would possibly save his life — a bone marrow transplant.
Joseph was adopted from Colombia and has an extremely rare blood type, therefore neither his parents, Craig and Nichole, nor his sister, Lily, were matches. Frangoul went to great lengths attempting to contact Joseph's biological mother, and relied on Colombian radio station announcements to help locate her and request a blood sample. She heard the announcements but unfortunately was not a match either.
Out of 5 million candidates on the national bone marrow registry, Frangoul's search came up with only one match. That donor, Jennifer McCann, who lived in Illinois, donated her matching marrow to save Joseph's life just one week after he turned 1.
“It was amazing to think there was only one human being on the registry capable of saving Joseph's life,” Nichole Huseby said.
It's been two years since the bone marrow transplant and Joseph has made a complete recovery. His parents are advocates for the bone marrow registry and are strong supporters of Children's Hospital.
“Joseph is doing great,” Frangoul said. “They are a very sweet family, and he has been a real trouper throughout this whole ordeal.”
Joseph will travel to the annual CMN Celebration in Orlando, Fla., in the spring with his parents and his sister to represent his home state, take part in tapings for the national CMN telethon and visit Walt Disney World. The family will also travel with the group to Washington, D.C., to have lunch at the White House, and will possibly have the opportunity to meet President George Bush.
“It is an honor that our family was chosen, especially Joseph. It's not only what we went through, but how incredibly Joseph went through it, to survive and be so resilient,” Nichole Huseby said.