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St. Jude steers tiny DJ Pete onto the right path after a series of life-threatening medical setbacks.
Peering over eyeglasses that rest on cheeks as pinchable as tufts of cotton candy, Douglas “DJ” Pete Jr. aptly deserves his nickname, “the little professor.” The moniker not only applies to DJ’s appearance but also to his life story, as he has seen and experienced far more than most toddlers.
DJ is not a typical toddler because, at 21 months of age, he has yet to take his first step. But with the help of clinical staff and occupational and physical therapists at St. Jude Children’s Research Hospital, he should soon be able to stride from the steady arms of his father, Doug, into the embrace of his mother, Shana.
Born with Down syndrome, DJ has endured surgery to repair three holes in his heart and is currently battling acute myeloid leukemia (AML)—the illness that brought him to St. Jude earlier this year.
Shana Robinson had no reason to suspect that her pregnancy with DJ was anything but normal. A prenatal blood test for Down syndrome had come back negative. But shortly after DJ’s birth a newborn screening revealed that he had the genetic disorder.
“It was a shock,” Shana says. “I knew what Down was, and DJ didn’t have any features. But doctors pointed out the slight bridge on his nose, the gap between his toes and a folded ear.” Those characteristics are indications of Down syndrome. Because this disorder is caused by the presence of all or part of a third 21st chromosome, the syndrome is also called trisomy 21.
Children with Down syndrome are at risk for other medical conditions, including heart problems. A cardiologist discovered a minor heart murmur in the newborn and told Shana to return for a checkup in 90 days. But a month later, she and Doug rushed DJ to the emergency room after he stopped eating and his breathing became shallow. He was experiencing congestive heart failure.
At the hospital, an echocardiogram revealed several holes in DJ’s heart. He received medication to prevent the holes from enlarging and underwent surgery.
“They repaired all three holes, but by the time we returned home and did a follow-up with the heart doctor, one of them was back open,” Shana says. “It was a small hole that will end up closing on its own.”
For the next year, life seemed to return to normal. Then in January 2009, DJ exhibited worrisome cold symptoms. Tests showed that he had a respiratory virus, a low number of infection-fighting white blood cells called neutrophils and a low platelet count. When a follow-up visit revealed another low platelet count, a hematologist biopsied DJ’s bone marrow to test for leukemia.
The biopsy showed that DJ had 5 percent blast cells in his bone marrow. Blast cells are immature cells that do not develop into normal red or white blood cells or platelets. Normally, blast cells make up less than 5 percent of all cells in the marrow. An increase to 5 percent or more indicates myelodysplastic syndrome (MDS). In MDS, the bone marrow produces improperly functioning blood cells that may develop into leukemia cells. People with more than 20 percent blast cells are considered to have AML, which is leukemic infiltration of the bone marrow.
The replacement of normal bone marrow cells with leukemic cells usually causes fever, pallor, fatigue, abnormal bleeding and bone pain. Although DJ was not exhibiting the typical symptoms, he was referred to St. Jude for further evaluation. Shana, who had never flown before, boarded a plane with DJ for the flight from Louisiana to Tennessee.
“My family drove me to the airport, and I was just terrified,” Shana says. “We had already been through so much that we thought there can’t possibly be anything else that could happen.”
Shana and DJ arrived at St. Jude February 19, 2009, one year to the day after his heart surgery. Immediate testing revealed that his blast cells had reached 22 percent. DJ was found to have a rare subtype of AML, acute megakaryoblastic leukemia—also known as AMKL or AML M7.
According to Piya Rujkijyanont, MD, of St. Jude Oncology, leukemia occurs 10-to-20-fold more frequently in patients with Down syndrome than in patients in the general population. Yet, the incidence of solid tumors is approximately half that of the general population.
“The higher incidence of leukemia is likely from genetic factors related to Down syndrome, including genetic instability caused by trisomy 21,” says Rujkijyanont, DJ’s postdoctoral fellow. “The explanation for the lower incidence of solid tumors remains uncertain.”
Although AML M7 is extremely rare in the general population, two-thirds of children with Down syndrome and AML are found to have this type.
Clinicians enrolled DJ in a protocol developed specifically for children with Down syndrome and AML or MDS. After having received six rounds of chemotherapy, his most recent bone marrow evaluation reveals no evidence of leukemia.
During his treatment, DJ has been undergoing speech, physical and occupational therapy sessions in the St. Jude Rehabilitation Services department. Because children with Down syndrome tend to have lower muscle tone, most of them lag behind the norm in achieving developmental milestones, such as speaking, crawling and walking. This limits even basic actions like handling and picking up toys. DJ’s first interaction with toys involved uncontrolled hand-slinging, which resulted in the random tossing of toys.
“Motor development begins near the body and extends out to the limbs,” explains St. Jude occupational therapist Jessica Allen, who initially concentrated on building DJ’s core strength in his abs and back.
When DJ arrived at St. Jude, he would plop forward with his arms and prop himself up to sit. As his strength increased, DJ began to sit up on his own and even began to crawl. This led to greater use of his hands and eventually interaction with toys, resulting in normal play.
Children with Down syndrome can also be over-stimulated and fearful of certain textures, colors or sounds. “We worked a lot with DJ on sensory-integration activities where we provide stimulation to him at a level he can tolerate,” Allen says. “We work up to where he becomes more tolerant not only of different sounds and textures but also of moving in different ways.”
Before interacting with Rehabilitation Services staff, DJ was afraid to stand. But by participating in motion activities like rocking and swinging, he has reached another milestone by standing. His speech has also improved, and he is now more willing to interact with people.
“He’s starting to say some words and imitate sounds,” Allen says.
Now that DJ’s chemotherapy treatment is coming to an end, he will soon be returning home to begin early-intervention services for his rehabilitation. With all the experience and education the family has gleaned in the medical field throughout DJ’s journey, Shana is now interested in attending nursing school and Doug is considering a career as a radiology technician. Both are grateful for what St. Jude has done for DJ.
“We want to do something with this experience by helping somebody else,” Shana says. “I realize now how many people donate to St. Jude. After this, we’re going to donate. They helped me out so much, so now I can give back.”
Down Syndrome and Leukemia
Children with Down syndrome have a 10-to-20 times higher risk of having leukemia than do children in the general population. On the other hand, their risk of having a solid tumor is much lower--the incidence is approximately half that of the general population. Most children with Down syndrome have three copies of chromosome 21 in every cell of their body. The extra genetic material may contribute to the onset of leukemia.
At St. Jude, DJ is enrolled in a protocol specifically for the treatment of children who have Down syndrome, acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Children with AML usually receive treatment consisting of intensive chemotherapy and stem cell transplantation. However, patients with AML and Down syndrome have leukemia blasts that are extremely sensitive to chemotherapy. For that reason, these children receive moderate-intensity chemotherapy without undergoing transplants.
Reprinted from Promise Autumn 2009