Archive for rare disease
Mouse/human model provides new way to study neuroblastoma
Neuroblastoma is a rare childhood cancer affecting about 800 children each year in the United States. Because of its unusual behavior — tumors in infants often disappear spontaneously without treatment while it can be aggressive and fatal in toddlers — studying the disease has been complicated. That may change with a new research tool: a ... Read More about Mouse/human model provides new way to study neuroblastoma
Gliomatosis cerebri: ‘As long as you keep going, you still have hope’
Anna Arabia, the only child of Kathy and Joe Arabia of North Adams, Massachusetts, was 13 when she was diagnosed with gliomatosis cerebri, a rare, rapidly-growing brain cancer. Unlike other tumors, gliomatosis cerebri does not form into lumps; instead it is threadlike, invading multiple lobes of the brain, making it impossible to remove surgically. Anna ... Read More about Gliomatosis cerebri: ‘As long as you keep going, you still have hope’
Pearson syndrome and the story of William’s cells
William will often ask to hear the “story about his cells.” His mom and dad, Elizabeth and Jeff Reynolds, are always honest. Yet, it is difficult for the 4-year-old to understand words like mitochondrial disease or myelodysplastic syndrome. He also can’t comprehend his parents’ pursuit of a novel treatment for Pearson syndrome, which led them ... Read More about Pearson syndrome and the story of William’s cells
A mother’s quest to find a cure for Shwachman-Diamond syndrome
Poppy Inez Hawkins is a born entertainer. Her favorite song is “Fire” by Kasabian. She loves kitchen disco. And she can frequently be found staging performances in the Hawkins-family living room at their home in London, England — free tickets provided and clapping encouraged. “She talks to everyone and will tell anyone who wants to ... Read More about A mother’s quest to find a cure for Shwachman-Diamond syndrome
Relationship talks: Staying together through a child’s illness
Among the many stresses of having an ill or injured child, parents often feel a strain on their marriage. Whenever she can, clinical social worker Katherine Preston, LICSW, reassures families that a child’s illness does not automatically spell the end of the parents’ relationship. Based on studies of families facing childhood cancer and diabetes, Preston ... Read More about Relationship talks: Staying together through a child’s illness
Going into science: Women scientists at Boston Children’s offer advice to girls
In honor of the International Day of Women and Girls in Science (February 11), we invited women scientists at all stages of their careers at Boston Children’s Hospital to share their scientific agendas. Here is some of what they had to say. The scientists also offered their advice for girls interested in entering the field. ... Read More about Going into science: Women scientists at Boston Children’s offer advice to girls
Scarlette: Hoping for a bright future with PK deficiency
Two-year-old Scarlette Walker loves pink. For her January visit to the Hematology Clinic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, she wore a shocking pink hat and pink dress. “She picked them out herself,” says her mom, Olivia. She even has a pink alter ego. “She pretends she is a pink helicopter named Dizzy. If ... Read More about Scarlette: Hoping for a bright future with PK deficiency
Diving deep: Understanding skeletal conditions with fish models
From fragile ice fish deep in the Antarctic Ocean to flying fish gliding above the Caribbean sea, fish have evolved a fascinating variety of skeletal traits. These traits not only help them adapt to their environments, they are also providing genetic insights into rare human skeletal disorders. Fish are not as genetically different from us ... Read More about Diving deep: Understanding skeletal conditions with fish models
Good early results with gene therapy for rare immune deficiency
Brenden Whittaker, a college student in Ohio, has been caught off guard by his good health. Since he was young, a rare immune deficiency known as chronic granulomatous disease (CGD) had left him vulnerable to life-threatening infections. He was used to going in and out of the hospital, and then hooking up to an IV ... Read More about Good early results with gene therapy for rare immune deficiency
Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome
A new research tool that mimics the behavior of diseased bone marrow provides a new strategy for understanding the bone marrow disease, Shwachman-Diamond syndrome (SDS), and hopefully, developing new treatments. With SDS, bone marrow fails to produce blood cells normally, leading to bone marrow failure and an increased risk of leukemia. In a research paper ... Read More about Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome