Archive for Emily Williams
Matthew, the ‘wee marvel’: One of the first ALD gene therapy recipients
When the Elliott brothers are asked how many siblings they have, they always say, “four.” It’s a way of honoring the memory of their eldest brother, Marc, who died in 2010 from adrenoleukodystrophy (ALD). ALD is a degenerative condition that destroys the protective sheath surrounding the brain’s neurons. Gradually, as the disease progresses, symptoms grow ... Read More about Matthew, the ‘wee marvel’: One of the first ALD gene therapy recipients
How growing up with sickle cell disease is shaping Nancy’s future
Imagine appearing completely healthy while managing a life-threatening condition. Most people who meet Nancy Blankson would never know she has sickle cell disease (SCD). Her symptoms are not easily visible. It’s a challenge she lives with every day along with periodic pain crises, which at times, she says, can be virtually unbearable. Nevertheless, the 20-year-old ... Read More about How growing up with sickle cell disease is shaping Nancy’s future
Pleuropulmonary blastoma: Caring for Cal
Each time the UPS truck makes its way up Becky Baker’s driveway in Lyons, New York, her 3-year-old grandson, Cal, is certain there’s a package for him. Today, the delivery is in fact for Cal — but not exactly the drivable mini Jeep he was hoping for. “Those are your diapers, buddy,” his grandmother says, ... Read More about Pleuropulmonary blastoma: Caring for Cal
Teaming up to fast track a novel gene therapy for Diamond-Blackfan anemia
Looking at Lindsay Krieg, it’s impossible to tell she has spent her entire 29 years in an out of hospitals managing a rare blood disorder. “It’s routine for me,” she says. “It’s all I’ve ever known.” Diamond-Blackfan anemia (DBA) prevents Lindsay’s bone marrow from producing the red blood cells essential for carrying oxygen from her ... Read More about Teaming up to fast track a novel gene therapy for Diamond-Blackfan anemia
A rebirth in Boston: Gene therapy turns 10
Lea la versión en español. Dec. 17 marks a decade since Agustín Cáceres was “renacido” — reborn. That’s how his parents, Alberto and Marcela, describe the day their son received his new gene. Born in 2010 with X-linked severe combined immunodeficiency (SCID-X1), Agustín spent the first few months of his life in isolation, at home ... Read More about A rebirth in Boston: Gene therapy turns 10
Un renacimiento en Boston: la terapia genética cumple 10 años
Read the English version. El 17 de diciembre se cumple una década desde que Agustín Cáceres “renació”. Así describen sus padres, Alberto y Marcela, el día en que su hijo recibió su nuevo gen. Nacido en 2010 con inmunodeficiencia combinada grave ligada al cromosoma X (SCID-X1), Agustín pasó los primeros meses de su vida en ... Read More about Un renacimiento en Boston: la terapia genética cumple 10 años
Too many blood cells: Probing a blood cancer’s genetic origins
At age 7, Meredith Shah began having debilitating migraine headaches. “I would have trouble seeing and shapes were blurry,” she recalls. “It was really painful.” Over time, the frequency and intensity of the headaches escalated. Her parents, Heidi and Nil, sought the help of multiple specialists. But they received few answers, other than an indication ... Read More about Too many blood cells: Probing a blood cancer’s genetic origins
Hemophilia A gene therapy paves the way for a life with less pain
Matthew Harrington, a 35-year-old oil-field worker from Douglas, Wyoming, knows pain. Born with hemophilia A, a rare condition in which the blood doesn’t clot properly, Matt’s body — both inside and outside — has difficulty stopping bleeding. He has what’s considered the most severe form of hemophilia, characterized by frequent bleeding episodes, particularly in the ... Read More about Hemophilia A gene therapy paves the way for a life with less pain
Diving into the dark side of ependymoma
Mariella Filbin, MD, PhD, a neuro-oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, is driven by a desire to find new therapies for some of the hardest-to-treat pediatric brain tumors. At the core of her work is an effort to uncover the events that shape tumor development. Key takeaways:· Aggressive ependymoma tumors are stuck ... Read More about Diving into the dark side of ependymoma
A drug treatment for telomere diseases?
For years, Donna Martin carried a piece of scrap paper with the words “dyskeratosis congenita,” which she believed might explain her son Brad’s sudden, mysterious affliction. A routine blood test had revealed Brad’s bone marrow was failing, unable to keep up with his need for healthy blood cells. His condition, Donna knew, would worsen over ... Read More about A drug treatment for telomere diseases?