Eli's Story

When he was three months old, Elijah (Eli) was treated for hydrocephalus and also was found to be blind. Further tests at another hospital determined Eli had osteopetrosis, a rare genetic disease.

Osteopetrosis is a rare congenital disorder (present at birth) in which the bones become overly dense. This results from an imbalance between the formation of bone and the breakdown of the bone. There are several types of osteopetrosis of varying severity. Symptoms may include fractures, frequent infections, blindness, deafness and strokes.

Severe osteopetrosis is also known as "malignant" osteopetrosis, or "marble-bone disease."

After consulting with physicians at a number of hospitals, Brian and Ashley (Eli’s parents) chose Fairview-University Children’s Hospital because Paul Orchard, M.D., had the most experience in treating this rare disease – 10 cases. Most other hospitals had treated none. In 2003, Eli received a bone marrow transplant from an unrelated, 33-year-old male donor.

“When we met Dr. Orchard, we trusted him immediately and knew he would work well with our family,” Ashley, Eli’s mother, says. “From the time we walked into Fairview –University it was different, we felt cared for, listened to – there was a sense of caring we haven’t experienced at other hospitals. Everyone was so responsive.”

“The Fairview staff never gave us false hope, but they cared, helped and answered our questions throughout the process. When we’d send an e-mail to Dr. Orchard, he would answer it the same day, some times within an hour. We felt like so many people at Fairview cared for us. They told us about things to expect and be aware of – what they had seen before. I know it sounds peculiar but I loved getting all the information and forms. It showed me that Fairview had its processes in place. This was not something new and experimental. I was thankful that more than 3,000 bone marrow transplants had been done. All of this gave me peace and confidence that Fairview was invested in Eli.”

“Fairview Foundation gave us funds for adaptive equipment to help Eli,” Ashley says. “The more mobile he becomes, the more independent and comfortable he is in his surroundings.”

With the funds, the parents designed Eli’s space with a fuzzy, sheepskin rug that designates his reading area, a musical mat that delineates his music and toy area, and a toddler-size table that gives him a place to play. “You don’t know what it means to me to be able to ask him to get his Play-doh, and he is able to find it,” says Ashley. “When he knows where his favorite toys and books are, it increases his confidence. With the funds, we also purchase some pre-Braille books that help him distinguish different textures like silk, cardboard and sandpaper.”

“It’s so good to be on the other side of the transplant. Eli is doing great,” Ashley says. “He is crawling and trying to walk. He’s content during the day. Before the procedure he was irritated a lot of the time. Now he likes music and blocks. His sense of humor is a pleasure to watch. He pretends to put his sippy-cup to his ear rather than his mouth and then laughs.

“He was in medical crisis for so long it is a wonder to see him more relaxed,” she says. “It’s been a year of cautious carefulness,” she says. “Each day we celebrate Eli’s achievements. We’ve had bumps and are proud for how well he’s done.”

“Now we’re talking about a future for our child beyond living day by day,” Ashley says. “Eli just celebrated his second birthday and his teacher is talking about pre-school. We feel so blessed. He’s been through so much, we are eager to see what he will teach us.”