When Poppy Biagini was just four months old, her family got news no parent wants to hear — that she had a rare, rapidly growing tumor in her right eye called a retinoblastoma.
That was almost three years ago. But if you looked at Poppy today, you’d be hard pressed to tell that she’s anything other than your average 3-year-old who loves Curious George, swim class and playing dress-up.
“She knows that there’s something a little different with her eye than everyone else’s,” her father Dana says. “But she’s handling it well.” …
Liz Beaulieu is likely the only person in the world who can say she saved her child by falling down the stairs.
Her daughter, Arielle, was just 4 days old. Liz was carrying her downstairs when she slipped. Not sure whether Arielle had hit her head, she whisked her to her local ER.
“She seemed fine, and they said that she looked fine,” Liz says. Still concerned, though, Liz kept a close eye on Arielle over the next couple of days. That’s when she noticed something.
“I noticed the slightest flicker of her eyes,” Liz recalls, “and decided that I wanted to get it checked out.” She took Arielle back to the hospital, asking them to do a CT scan. The hospital demurred, but Liz insisted, telling them she needed the peace of mind.
“So they did the scan,” Liz recalls, “and they found an enormous tumor.”
Arielle had been born with a congenital intracranial teratoma (CIT)—a kind of germ cell tumor and one of the rarest of rare brain tumors. CIT grows rapidly, squeezing the brain and eventually taking over all of the space inside the skull. Very, very few children survive. …
Your child is sick. You bring her to the hospital or the doctor, and a few tests later you have a diagnosis. Whether it’s a simple condition or a complex, chronic disease, you now know what to expect.
Unless the tests don’t give a straight answer. Maybe they come back with conflicting results. Or some of your child’s symptoms match one condition, the rest another, but don’t strictly match one or the other. What then?
This scenario is more common than you might think. Some 30 million Americans suffer from rare disorders, and many never receive a diagnosis. They live in the gray area of undiagnosed diseases, a broad term that includes patients of all ages with a wide variety of conditions that can’t currently be defined.
And it’s been the story of Reid Michaelson’s* life from day one.
“When he was born, I looked at him and told the nurses, ‘Something’s wrong,'” says his mother Amy*, who’s a nurse practitioner. “He was twitching oddly, and just not normal, but they dismissed it.”
Nine days later they were on their way to Boston Children’s Hospital. …