A life depends on a bone marrow transplant

Osteopetrosis is a big word for such a little guy, and yet Joseph, now just a little over a year old, has had that word attached to him since he was eight months old. Osteopetrosis is a rare, inherited disorder in which the bones become dense and harden because the body doesn’t shed old bone tissue. In severe cases, patients can experience stunted growth and deformity, in addition to increased fractures and bone infections.

Sometimes, osteopetrosis can cause an enlarged spleen, kidney problems, anemia and bone marrow failure. It can even lead to blindness, facial paralysis and deafness due to increased pressure on nerves. Without a bone marrow transplant, most children will not live to the age of 10.

For Joseph, gastrointestinal issues were the first sign that something was wrong, according to his mother, Kim. Despite the temptation to attribute the symptoms to normal childhood allergies, she knew in her heart that it was more. Treatment after treatment failed to relieve Joseph’s symptoms. It was a neurologist who finally made the official diagnosis, which devastated the family.

“Our reaction was shock,” said Joseph’s father, Pat. “It was very emotional. We immediately got on the Internet and began researching osteopetrosis, its outcome and its treatment. We kept hoping the diagnosis was wrong.”

Referred to the University of Minnesota by their physician in Rochester, N.Y., the family began working with Dr. Paul Orchard, assistant professor and Medical Director of the Inherited Metabolic Storage Disease program at the university. Dr. Orchard is one of the most experienced doctors in the world at treating osteopetrosis patients, and the family felt this was the best place for Joseph.

“Joseph was a trooper through the whole thing”

Joseph was admitted to the University of Minnesota Amplatz Children’s Hospital on December 26, along with his favorite froggy blanket, and began receiving inpatient chemotherapy. He also received one day of very targeted radiation. “Joseph was a trooper through the whole thing,” wrote his parents on their CaringBridge Web site. “He still remains a very happy baby.”

Joseph received his bone marrow transplant on January 5th, 2011, from an unrelated 26-year-old female donor who was a 100 percent match. Twenty-eight days after his transplant, Joseph was released to the Ronald McDonald House to await a therapeutic boost of stem cells.

“This was specifically designed for osteopetrosis patients,” said Dr. Orchard. “They get a ‘boost’ of donor stem cells on day 42 to help with engraftment. Due to the abnormal bone in these patients at the time of transplant, we think there may be areas in the bone marrow that aren’t able to benefit from the first round of stem cells. Once engraftment has begun, these areas become more stabilized and a second round of stem cells may ensure better engraftment through more of the patient’s bone marrow.”

Kim said the most difficult part of the experience was watching Joseph laboring to breathe with the post-transplant mucositis, which lasted about two weeks, and the high fever at five weeks after the transplant. Thankfully, however, the transplant seems to have preserved some of Joseph’s eyesight, which was a big concern of the physicians and his parents. To parents facing a diagnosis of osteopetrosis, Kim said, “Have patience, and be prepared for it to get worse before it gets better.”

A donation to further research

In April of 2011, Joseph was well enough for the family to return to Rochester. They will travel back to the University of Minnesota for regular check-ups for several years. Now passionate about the importance of research, the family donated some of Joseph’s blood and a skin biopsy for future childhood cancer research.

As they continue on this journey, Pat’s dreams for his son are simple. “I hope he gets to live a happy, healthy, normal life,” he said. And what about that froggy blanket? “That blanket’s not going anywhere until Joseph’s 30,” he laughed.

Cured, now raising funds to help others

In the summer of 1999, Emma was a toddler with a cough that prompted parents Angie and Shaughn to bring her to the doctor. A chest x-ray revealed a tennis ball-sized tumor. The family went straight from the radiologist to the University of Minnesota Children’s Hospital, Fairview.

There, the family met Joseph Neglia, M.D., for the first time. “He came into our room and he sat down and leaned back and got comfortable. I knew right away that he was going to be there for six hours if I needed him to,” Angie says.

Nevertheless, the first night was difficult. As parents of a critically ill child, “you sometimes go back and forth on who’s having the harder time,” Angie says. “Shaughn was really having a hard time that night. I told him, there are parents, right now, who have lost their child, and they would give anything in the world to be where we are right now. We have Emma, she’s right here. That was what we both focused on after that.”

“Dr. Neglia came into our room and and got comfortable. I knew right away that he was going to be there for six hours if I needed him to.”

A symbol of hope

During Emma’s hospital stay, she underwent surgery to remove the mass, then three rounds of outpatient chemotherapy. Today, Emma is a cancer survivor who loves basketball and music. She plays the clarinet in the school band and is also learning to play her sister’s trumpet. She also wants to start piano lessons.

Emma doesn’t remember everything about her cancer experience, but she remembered enough to inspire a drawing that became one of 25 squares in a quilt commemorating the 25th anniversary of Children’s Cancer Research Fund. Her quilt piece features four images: her family, Dr. Neglia, the word ‘hope’ and a butterfly. The picture of her family was a reminder, Emma says, of who was there with her during her treatment. Dr. Neglia was featured because, “he’s really, really nice,” says Emma. “He never made me feel really scared.”

The word ‘hope’ appeared because, as Emma says, “all families need to have hope if their kids have cancer.” The butterfly was included because it’s the symbol used by Children’s Cancer Research Fund.

Giving back in gratitude

“It was a huge comfort to know that there were people [at Children’s Cancer Research Fund] working to find a cure, people who cared about Emma even though they didn’t know her,” says Angie. The family was so thankful for the help of University ofMinnesota Amplatz Children’s Hospital and Children’s Cancer Research Fund that, since 2000, they’ve coordinated a 10K walk called Emma’s Hope in Pepin, WI, which has raised more than $100,000 to date.

While the experience isn’t one they’d wish on anyone, the Laehns do appreciate the moments of bliss that still hit them when they consider how bad things could have been. Angie Laehn gives an example: When she dropped Emma off for her first day of preschool, Angie struggled not to cry. Some teachers, passing by Angie in the hallway, saw the tears. “The teachers said, ‘Oh, are you having a hard time?” she recalls. “And I said, ‘No, I’m just so thankful that she’s going to preschool.’”