Family turns to Dell Children’s to care for rare genetic blood disease

Leslie McGuinness Monclova has a very creative son, Tavi, who likes to sing, dance and act. She wouldn't be surprised if he became a performer later in life, but that energy started to change one day.

When Tavi was nearing his third birthday, Leslie noticed a decrease in Tavi's singing and dancing. He stopped being active around the house and started taking more naps. Leslie began to worry about his health. 

"He didn't want to eat his cupcake on his third birthday," she said. That was her sign to stop delaying care and take Tavi to see a doctor. "We found out that he was severely anemic. He didn't have enough red blood cells," Leslie said. The Austin-area doctor encouraged her to take Tavi to Dell Children's Medical Center, part of Ascension Seton, for emergency care.

Tavi was taken to the pediatric intensive care unit (PICU) when he came to the emergency room. He would spend a few days receiving blood transfusions as a temporary solution to his low red blood cells. "The transfusion stabilized him, but until they knew his diagnosis, they couldn't keep him stable for very long," she said. "We had to continue going to Dell Children's Blood and Cancer Center once or twice a week for blood transfusions and lab work."

Tavi's care team collaborated through research, lab work and exams to determine a diagnosis. Doctors wanted to rule out everything, so Tavi had different lab work and even a bone marrow biopsy to rule out leukemia. 

Leslie received a call from Alicia Chang, MD, to go over the family's medical history in detail again and to review Leslie and her siblings' history of illness. Dr. Chang, a pediatric hematologist and oncologist at Dell Children's, believed Tavi had a rare disease called autoimmune lymphoproliferative syndrome (ALPS). She suggested that Tavi have more blood work, and a month later, the results were positive.

In Tavi's diagnosis, Leslie discovered that the disease runs in her family. "It turns out about half the people in our extended family have this disease as well, but it's something you generally grow out of, or it starts to appear later in life," she explained. Leslie and her siblings had expressed having similar symptoms as children, but no one knew what it was.

It was a relief to the family to know what was wrong with Tavi. The care teams at Dell Children's worked with Leslie to find the best treatment plan for him. "It is something that he will hopefully outgrow. It's not something that should get worse," Leslie said. 

Tavi's new treatment plan involves medications prescribed by his doctor. He no longer has to receive transfusions, and he visits the hospital for annual checkups.

Although Tavi was 3 years old during his stay at Dell Children's, he remembers his comfort in the hospital. During his follow-up appointments, he sometimes wishes he could stay all day. "They gave me a nice breakfast. Mom let me watch Snoopy on the computer, and then I like how it's very comfy," he said. 

For Leslie, it was comforting to know Tavi enjoyed going to Dell Children's to receive care during the months of uncertainty around his symptoms. "Most children don't like going to the doctor, and nobody ever wants to go to the cancer center with their child," she said. "But knowing that they make the visit there as fun as they possibly can, given the circumstances, and that my son was always willing to go, always happy to go, was very reassuring and made a very difficult time a lot easier," Leslie said.

Personalized care for cancers and blood disorders

At Dell Children's Blood and Cancer Center, pediatric oncologists and hematologists have the expertise to diagnose and treat even the most complex cancers and blood disorders. Your child's doctor uses advanced testing and imaging to diagnose your child's condition. Get the confidence and peace of mind that your child's doctor and care plan is right for your family. Talk with one of our doctors for a second opinion by calling 512-628-1900 for an appointment.