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After a long search for answers, family finds expert care for a rare disease

Three years ago, Chamonix White’s daughter Taytem received a blood and marrow transplant at University of Minnesota Masonic Children’s Hospital to treat Hurler syndrome, a rare genetic disease.

When it comes to her kids’ health, Chamonix White is not just persistent—she’s unstoppable.

White’s daughter Taytem was diagnosed with Hurler syndrome more than three years ago after a series of doctor’s appointments led to more questions than answers. Hurler syndrome is a rare genetic condition that is fatal and—if not identified quickly at an early age—results in severe neurological and skeletal development issues followed by death if left untreated.

“I knew she wasn’t where she was supposed to be developmentally and she consistently had respiratory issues,” White said. “I wasn’t going to just accept that everything was normal.”

Thanks to her mother’s determination, Taytem eventually received a blood and marrow transplant in 2014 at University of Minnesota Masonic Children’s Hospital. Doctors and care providers in the hospital’s pediatric blood and marrow transplant program are recognized worldwide as blood and marrow transplant pioneers—and worldwide leaders in the treatment of Hurler syndrome. The world’s first successful matched, related donor bone marrow transplant was performed in 1968 at University of Minnesota Medical Center by Robert Good, MD. This year, the university is celebrating the 50th anniversary of the procedure.

Learn more about our pediatric blood and marrow transplant program.

Seeking help

Taytem’s transplant saved her life by halting and even reversing some of the devastating effects of Hurler syndrome, but her road to transplantation was long and challenging.

White knew early on that her daughter was seriously sick, and initially sought help from her local pediatrician in Nebraska. After exhausting their options, the family received a second opinion; Taytem’s grandmother took Taytem to see the same doctor who had delivered her at birth. The family told the second doctor that Taytem had all the signs of Hurler syndrome. The doctor agreed, diagnosing Taytem with Hurler and referring the family to a specialist. In turn, the specialist suggested they seek care at University of Minnesota Masonic Children’s Hospital.

After visiting the specialist, White began scouring Hurler syndrome groups on Facebook. She found another Nebraska family battling Hurler syndrome and sought out their advice. They strongly recommended University of Minnesota Masonic Children’s Hospital for Taytem’s medical needs.

“It’s amazing,” White said. “All the research I found said the University of Minnesota was the best place for kids with Hurler syndrome. After finding this family, I knew we had to go there.”

Once at the University, White met Pediatric Blood and Marrow Transplant Physician Troy Lund, MD, PhD. Lund and his colleagues quickly found a matched umbilical cord blood donor for Taytem and began her transplant procedure just weeks later. In addition to her transplant, Taytem also participated in a clinical trial aimed at reversing neurological damage caused by the disease.

“Thankfully, Chamonix got Taytem here before the disease had fully progressed,” Lund said. We were able to halt many of the effects of her condition and even turn some back. We were able to stop the ongoing neurologic damage and give her a better chance at healthy brain development.”

Rare, but not alone

While Hurler syndrome is rare, Taytem was not alone in her moment of need. For nearly four decades, the University of Minnesota Health doctors have pioneered treatments for Hurler syndrome, including blood and marrow transplantation. Physician William Krivit, MD, led Hurler syndrome research in the 1970s and 1980s at the university. The first blood and marrow transplant to treat Hurler was performed at University of Minnesota Medical Center in 1983.

“Not many places can say they’re experts in treating Hurler syndrome with a blood and marrow transplant, because the condition is just so rare,” Lund said. “We get Hurler syndrome patients from all over the world who come here for treatment because of our unique expertise.”

Learn more about the history of our pediatric blood and marrow transplant program.

People with Hurler syndrome are born missing an enzyme that helps break down long chains of sugars in the body. Without a functioning enzyme, these sugars build up in the body, causing severe neurological and developmental issues—including delayed learning and abnormal bone formation. A blood and marrow marrow transplant gives patients new, healthy cells that begin to produce a working version of the enzyme.

The transplant doesn’t correct all of the problems caused by the disease, but it does keep the disease from progressing and can reverse some negative side effects, Lund said. The sooner kids with this condition get a transplant, the better their outcomes.

‘Just A Normal Kid’

Three years after her transplant, Taytem is leading a mostly normal life. The 4-year-old preschooler is meeting all her developmental and cognitive goals just like her peers, White said.

“She’s extremely intelligent,” White said. “There’s still more work to be done, but she’s doing great.”

Taytem has some orthopaedic and skeletal issues resulting from her condition. She will need surgery on both of her hips and struggles with mobility issues. Still, the trajectory of her genetic condition was dramatically altered, thanks to her mom’s unwavering determination and the care she received at University of Minnesota Masonic Children’s Hospital.

Next month, the family will return to the hospital for her annual checkup. White said it still feels like they’re walking into a familiar, welcoming home whenever they come back to the hospital.

“It’s like our home away from home. The nurses and doctors have always treated us like we’re family,” White said. “I must be the only person who likes coming back to the hospital. But there’s something different here. The people here really, really care. I can never stop thanking them enough for everything they’ve done for my family.”