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. Doctors there proposed and discarded a host of diagnoses. “Even that early already no one could say what was wrong. They thought he had seizures, they thought he had Wilms’ tumor. We were discharged with a diagnosis of PANDAS,” a neuropsychiatric condition thought to be triggered by an overenthusiastic immune response to a strep infection.
Red flags, but warning of what?
Over time, Reid’s neurological symptoms seemed to fade, but he still had developmental delays and problems with muscle tone. On top of that, his belly became quite large, suggesting that he had severe liver disease. “There were all these red flags,” says Amy, “but I couldn’t pinpoint it.”
When the whole family had a stomach bug a few years ago, Reid, who was 7, was the only one who couldn’t seem to shake it. So the family brought him back to Boston Children’s. After ruling out stomach viruses, the doctors admitted Reid for more tests, none of which ever came back with a clear answer. Amy went so far as to have Reid evaluated at Children’s Hospital of Philadelphia, but still no one could give her an answer.
“Nobody ever says with certainty, ‘Yes, this is his condition and this is what we should do,'” Amy says with frustration. “But no matter what diagnosis, you want a label. And in the medical world, that label comes in the form of a diagnosis.
“We’ve had to become comfortable,” she adds, “with not having a diagnosis, but with having a treatment plan.”
Living with ambiguity
“But,” Amy adds, “I never bought into the idea that he had PANDAS.” Reid’s Boston Children’s neurologists later agreed, stepping back from the PANDAS diagnosis and bringing the question back to square one: What does he have?
Reid’s now 12 and still undiagnosed. Over the years, doctors from eight Boston Children’s specialties—including neurology, blood disorders, gastroenterology, genetics, and infectious disease—have had a hand in his care. He has some limits in his physical activity, slight development delays, and he’s a little uncoordinated, but according to Amy, unless you know him, you can’t quite tell something is different. “He does a good job at figuring out what he’s really good at rather than dwelling on what he’s bad at.”
He doesn’t talk about his condition or lack of diagnosis outside the family. When Amy asked him why one day, he told her, “I’m different enough just being me. I don’t need that following me around.”
In some ways, he’s become the family’s rock as they all try to cope with the ambiguity of living with an undiagnosed disease.
“Sometimes I really take my strength from him, and other times I toss my head in the books to try and hunt down good research and evidence that says how to help him,” Amy says. “Emotionally, he’s amazing at dealing with it, sometimes more amazing than me at keeping it all together.”
At the moment, Reid’s diagnosis is split between Wilson’s disease (a rare genetic condition where the liver and other organs get overloaded with copper) and Joubert syndrome (another rare condition which can affect a host of organs, including the brain and liver). He has cirrhosis—again, no one quite knows why—and will eventually require a transplant. Not knowing what he has, though, there’s no way to know when that day will come.
But despite the uncertainties, the family has come together to make sure that Reid will live life as much as possible like any other child. “We’re not going to let it overcome us,” Amy declares. “He will live a normal life. Science will prevail, and we will get him a new liver or make this one continue to work. And we’ll take life as it comes.
“Right now he’s alive,” she says, “so right now he’ll be a regular 12-year-old-boy.”
The Manton Center for Orphan Disease Research at Boston Children’s recently opened CLARITY Undiagnosed, an international challenge in which scientific teams can compete to provide answers for five families with undiagnosed conditions. Our Vector blog has the whole story about the challenge and its goals.
* These are not their real names. While Reid’s family was happy to share their story, they asked that we keep their true identities confidential.