Archive for Emily Williams
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
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
Decoding sickle cell disease offers new outlook for Lamarcus
When Lamarcus Jean visits the Hematology Clinic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, he makes himself right at home. The 6-year-old, whom his mom, Stephanie, describes as “wise beyond his years,” has been a patient here since he was born. Lamarcus has sickle cell disease, an inherited blood disorder caused by a mutation ... Read More about Decoding sickle cell disease offers new outlook for Lamarcus
Unlocking a treatment for diffuse intrinsic pontine glioma
Diffuse intrinsic pontine glioma (DIPG) is a highly aggressive and one of the most difficult-to-treat childhood tumors. It’s the second most common malignant brain tumor, as well as the leading cause of brain tumor death among children. “It’s essentially 100 percent fatal,” says Katherine Warren, MD, clinical director for Pediatric Neuro-Oncology at Dana-Farber/Boston Children’s Cancer and ... Read More about Unlocking a treatment for diffuse intrinsic pontine glioma
Healing hearts under a watchful eye
Cardiac surgery is performed using visual landmarks inside the heart. There are specialized conduction tissues that run underneath the surface, which are important for the heart’s rhythmic beating. Cardiac surgeons operate with these landmarks in mind to avoid injury to conduction tissue, but locating these tissues can be challenging. Fiberoptic confocal microscopy technology inside the ... Read More about Healing hearts under a watchful eye
Life with Li-Fraumeni syndrome
On the first day of school, 16-year-old Darcey Boucher carefully laid out what she was wearing: black jeans, a white T-shirt, black sweatshirt, white Vans — and her wig. Darcey has osteosarcoma, a rare form of bone cancer. She had surgery in May to remove the tumor from her leg. And now, she is on ... Read More about Life with Li-Fraumeni syndrome
How families are reshaping Shwachman-Diamond syndrome research
No one knew the heartache about to unfold when Savannah and Brett Lillywhite first began thinking about having a family 10 years ago. The Lillywhites Savannah and Brett are both the unlikely carriers of a rare condition called Shwachman-Diamond syndrome — SDS for short — a blood disorder that can lead to bone marrow failure ... Read More about How families are reshaping Shwachman-Diamond syndrome research
How a broken leg and a transatlantic flight led to a deep vein thrombosis
Pain was 16-year-old Katerina Dalmanieras’s first warning sign when she returned from a family vacation in August. The high school junior, who fractured her fibula a month earlier, was in a leg brace and on crutches, so she had not moved during the seven-hour transatlantic flight. “When I got home from the airport, my leg ... Read More about How a broken leg and a transatlantic flight led to a deep vein thrombosis