Mason: Malignant Infantile Osteopetrosis
"My child is alive. My child is cured. He鈥檚 the product of everything that Nemours has done for us."
鈥撀燬arah Shaffer, Mom
![Mason, a Nemours leukemia patient](/patientfamily/patient-stories/miop-mason/_jcr_content/root/container/container/basicblock_83517706732767/image.coreimg.jpeg/1687337563462/patient-cancer-mason-leukemia.jpeg)
Without the expertise of doctors in the Blood and Bone Marrow Transplant (BBMT) unit at Nemours Children鈥檚 Hospital, Delaware in Wilmington, Del., Mason Shaffer would not be alive. Today, he is a happy, active little boy, but his life certainly didn鈥檛 start out that way.
So Much Struggle for One Little Body
When he was only 4 days old, Mason had several seizures. Tests to determine the cause were inconclusive. Then, at 6 weeks old, Mason was diagnosed with respiratory syncytial virus (RSV), a very serious viral illness in newborns. His parents, Marc and Sarah, also noticed that Mason wasn鈥檛 reaching milestones such as rolling over, arching his back and lifting his head. He often screamed in pain and his left eye turned outward. So they took their son to a pediatric ophthalmologist, who diagnosed nearsightedness and a serious eye diversion in his left eye. Soon, Mason was wearing glasses and an eye patch.
During a routine visit, the pediatrician noted that Mason had an enlarged belly. A blood test showed that he had an extremely high white count, raising concerns about leukemia. Marc and Sarah immediately went to Nemours Children鈥檚 Hospital, Delaware, where Mason was admitted to the hematology/oncology unit. Throughout that night, pediatric oncologists E. Anders Kolb, MD, and Jonathan Powell, MD, examined Mason鈥檚 blood under the microscope and discussed and researched his condition.
A Frightening Diagnosis
By morning, Dr. Kolb told Marc and Sarah that Mason did not have leukemia. Instead, he had a serious genetic bone marrow disorder called 鈥渕alignant infantile osteopetrosis鈥 (MIOP), so rare that it occurs in only 1 in 250,000 births. Due to his disease, Mason鈥檚 bones hadn鈥檛 formed properly. They were solid and brittle, unable to house healthy bone marrow and to support normal growth. The diagnosis came at a critical time. Within weeks, Mason could lose his vision and hearing. Within two years, he could die. The only known cure for MIOP is a bone marrow transplant.
First, 7-month-old Mason underwent chemotherapy to disable his immune system. Six weeks after his first hospital admission, he received donated cord blood. This replaced his defective bone marrow and saved Mason鈥檚 vision, hearing 鈥 and his life.
鈥淲hen you鈥檙e in the midst of it, you have no imagination of what the outcome is going to be,鈥 says Sarah. 鈥淵ou鈥檙e going through the chemo and watching them take your baby鈥檚 counts down to absolutely nothing. The doctors put in the new cells and just hope they work.鈥
Against All Odds
During the next few months, all the effects of Mason鈥檚 potentially fatal condition began to turn around. With extensive physical and occupational therapy, he regained the appearance and mobility he鈥檇 lost. Mason doesn鈥檛 even have to wear glasses anymore. Today, he鈥檚 a healthy 5-year-old聽whose聽family will be eternally grateful for the care he received.
鈥淢y child is alive. My child is cured,鈥 marvels Sarah. 鈥淗e鈥檚 the product of everything that Nemours has done for us.鈥
To help other families whose children are diagnosed with serious illnesses, Marc and Sarah Shaffer have established聽, which allows new parents to donate their newborn鈥檚 umbilical cord blood at no charge. The Shaffers have paid it forward 鈥 with interest.