Archive for rare disease
Calm through the storm: Connor’s ulcerative colitis journey
When you meet Connor today, he’s a confident 13-year-old who is incredibly laid back when he speaks about his complex medical condition. This school year, he plans on playing basketball and running track. “I like hanging out with my friends and traveling — now I can do all these things without being in pain.” However, ... Read More
A global take on rare disease research: Maya Chopra, MBBS, FRACP
Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of ... Read More
DADA2: Working together to unpack a rare mystery illness
When Vanessa was a few months old, a mysterious red, bumpy rash appeared on her arms and legs. It would go away when she was sick with a virus, then come back. Although the rash disappeared for good just before she turned 2, Vanessa became anemic and increasingly fatigued. “She was fading away, losing weight, ... Read More
Virtual visits give Weston time to grow and thrive
For many kids and parents, staying home during the COVID-19 pandemic was a challenge. But for Weston Mahady and his family, social distancing was just what the doctor ordered. The slowed-down pace, time spent together — and access to virtual appointments with Boston Children’s specialists — allowed Weston to make developmental strides that once hadn’t ... Read More
Playing the long game: An exciting discovery in telomere disease
Each time our cells divide, the protective caps that keep our chromosomes from fraying, called telomeres, lose a bit of their DNA. Telomeres shorten steadily as we age, but in certain medical conditions like dyskeratosis congenita, the process is accelerated. “Your telomeres determine your lifeline; how long they are determines how old your body is,” ... Read More
Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
As a newborn, Sam Hoffman never cried or made a sound. His mother, Carolyn, often had to wake him up to feed him. He missed many of his infant milestones. At one visit, his pediatrician tapped his leg and couldn’t get a reflex. A urine test found extremely high levels of 4-hydrobutyric acid or GHB ... Read More
Cracking the code on Kleefstra syndrome: It takes a community
Paul Terry is a staunch advocate for people with rare diseases — but researchers were only able to put a name to his condition five years ago. It was an answer he and his family had long sought. When Paul was a baby, his parents saw that he wasn’t hitting all his milestones. Their pediatrician ... Read More
Finding hope in hard times: Max’s journey with ulcerative colitis and primary sclerosing cholangitis
When Rachel’s son, Max, had a string of persistent symptoms that caused him to be in and out of their local pediatrician’s office, Rachel knew something deeper was going on. “He would wake up from a deep sleep with intense abdominal pain, fever, and vomiting, he was very sick.” Their pediatrician thought Max just had ... Read More
Genetic sequencing may open doors for newborns with hypotonia
When a baby is born with low muscle tone (hypotonia), the future is hard to predict, and families have a lot of questions. How should neonatologists care for these infants? Findings from a recent review could help provide some answers, guide appropriate interventions, and in some cases open the way to custom treatments. Diagnosing a ... Read More
Adjusting to sitosterolemia took time, but Justin is now on a healthy path
After Justin Zhao was diagnosed with the rare metabolic disorder sitosterolemia five years ago, the toughest part of treatment was watching his three siblings eat chocolate when he couldn’t. Sitosterolemia is a genetic disease that causes the fatty substances, or lipids, from plant-based foods such as nuts and vegetable oils to build up in the arteries, increasing ... Read More