Archive for Emily Williams
Hope in the shadow of Li-Fraumeni syndrome
Jake was diagnosed with his first cancer — osteosarcoma — in 2007 when he was only 16 years old. Meanwhile, his mom was being treated for recurrent cancer and his brother also would soon be diagnosed with cancer. Within the space of a few years, all three family members had died. This was not the ... Read More about Hope in the shadow of Li-Fraumeni syndrome
Tagged: cancer, oncology, osteosarcoma, rare disease
Not all heroes wear capes: Taking on dyskeratosis congenita
When Mason Langlais argues with his sister, Jillian, he regularly repeats a mantra. “I’m the rare one,” he says. “So, you can’t treat me like this.” “Rare” and “one in a million” — those are just a few of the words his mom, Jenn, uses to describe her 7-year-old self-proclaimed super hero. It’s how she ... Read More about Not all heroes wear capes: Taking on dyskeratosis congenita
Following clinical trial, boy with Fanconi anemia transfusion free
Seven-year-old Ervis of Chicago, Illinois, is a model student with a positive attitude and a megawatt smile. His mom Ofelia calls him “un encantador” — “a charmer,” but life as Ervis knows it is not exactly charmed. Born with Fanconi anemia (FA), a rare hereditary blood disorder that can lead to bone marrow failure and cancer, ... Read More about Following clinical trial, boy with Fanconi anemia transfusion free
Tagged: anemia, blood, clinical trials, rare disease, research
Breaking gender biases: What is it like to be a girl with severe hemophilia?
In human biology class this past semester, Morgan DiPrima viewed a PowerPoint presentation that made her head spin. It included a hemophilia slide solely focused on men. “So, I asked the professor if I could do a class presentation on hemophilia for extra credit.” Very few college students “request” extra work, but this 19-year-old Dean ... Read More about Breaking gender biases: What is it like to be a girl with severe hemophilia?
Tagged: blood, hemophilia
The space between heartache and happiness: Two sons with adrenoleukodystrophy
When Paul and Liliana Rojas talk about their life, they describe it in one of two ways — the way it was before their sons, 10-year-old Brandon and 7-year-old Brian, were diagnosed with ALD, and the way it is after. Their story is one of heartbreak — but also hope, in the form of a ... Read More about The space between heartache and happiness: Two sons with adrenoleukodystrophy
Tagged: adrenoleukodystrophy, clinical trials, gene therapy
Forty years waiting for a cure: ALD gene therapy trial shows early promise
A small piece of notepaper, folded twice, sits tucked in a slot of the secretary desk in the living room. Every so often, I pull it out, read it, then reread. Addressed to my mom, the paper has a question and two boxes, one “yes” and one “no,” written with the careful precision of a ... Read More about Forty years waiting for a cure: ALD gene therapy trial shows early promise
Tagged: adrenoleukodystrophy, gene therapy, stem cells