AREAS OF FOCUS
Undiagnosed Chronic Illness
Some children live with real, persistent, and disruptive physical and mental symptoms, yet no test explains them. They may have pain, fatigue, fevers, rashes, or a mix of problems that come and go, and they may see several doctors without getting a clear answer. For families, that uncertainty is exhausting. Normal test results do not mean nothing is wrong, and an illness that resists a name still deserves careful attention. Patient, careful evaluation is often what turns a series of unexplained symptoms into a recognizable condition.
Why some illnesses are hard to name
Many conditions begin with signs that are easy to mistake for something else. A rash can look like eczema or an allergy; recurring fevers can look like one infection after another; and joint pain can look like growing pains or a sports injury. Some conditions are rare, and their early signs overlap with far more common problems. Others, such as amplified pain or dysautonomia, involve changes in how the nervous system works that standard tests are not designed to detect. In each case, the answer often lies in the pattern rather than in any single result.
The value of the pattern
When no single test provides an answer, the pattern over time is the most useful evidence. A record of when symptoms appear, how long they last, what other symptoms accompany them, and how the child is in between can reveal a condition that a series of separate visits might miss. A pediatric rheumatologist is trained to recognize these patterns. Many of the conditions Dr. Shulman treats, including autoinflammatory syndromes, juvenile dermatomyositis, and pain amplification syndromes, are often identified this way after months of uncertainty.
Living fully while answers are found
Some of medicine’s most important conversations happen when answers are incomplete. Families can still focus on what helps a child feel and function better in the meantime, including sleep, steady activity, and support for the stress that comes with uncertainty. Being believed matters as much as anything else. A child whose symptoms are taken seriously is better able to stay in school, stay connected with friends, and continue working with the care team toward answers.
How Dr. Shulman approaches it
Dr. Shulman cares for children and teens whose symptoms elude diagnosis, and colleagues refer patients whose pain or illness does not follow a pattern. He brings clinical experience and scientific training to questions that lack simple answers. He believes that an accurate diagnosis is essential yet rarely sufficient, and that a child with real but hard-to-measure symptoms deserves to be believed while the work of finding answers continues. These questions about medical uncertainty and what medicine owes patients in the meantime are part of what he writes about in his forthcoming book, Cramp: A Doctor’s Notes on Pain.
Frequently Asked Questions
What does it mean when a child's illness is undiagnosed?
It means a child has real, persistent symptoms that testing and examination have not yet explained. It does not mean the symptoms are imagined. Often, the condition is rare, still in its early stages, or involves a process, such as how the nervous system regulates pain or circulation, that standard tests do not capture.
Why do my child's tests keep coming back normal?
Standard tests look for specific problems, such as structural damage, infection, or certain markers of inflammation. Some conditions do not show up on those tests, especially in their early stages or when the problem lies in signaling rather than structure. Before confirming a diagnosis such as juvenile arthritis, doctors also work to rule out other explanations, including infection. Normal results rule out some causes, which is useful, but they do not rule out every illness.
How can I help my child's doctor find an answer?
Keep a record of the symptoms, including when they started, how often they occur, how long they last, what seems to trigger them, and how your child is between episodes. That timeline often reveals a recognizable pattern from a series of seemingly separate illnesses.
Could my child's symptoms be a rheumatologic condition?
They might be. Many rheumatologic conditions, including juvenile arthritis, lupus, dermatomyositis, vasculitis, and autoinflammatory syndromes, often present with symptoms such as joint pain, rashes, fevers, or fatigue that are easy to attribute to something else. A pediatric rheumatologist can evaluate whether the pattern points to one of these conditions.
What if no diagnosis is found?
Care does not have to wait for a name. Treatment can still address symptoms such as pain, fatigue, and poor sleep, and regular follow-up helps a doctor recognize a pattern as it emerges. Some conditions become clear only over time.
What kind of doctor evaluates unexplained symptoms?
A pediatrician is usually the first point of contact. Children with joint or skin symptoms, recurrent fevers, or pain that does not follow a pattern are often referred to a pediatric rheumatologist, a specialist in autoimmune and inflammatory diseases. Depending on the symptoms, other specialists may also be involved.
For appointments or clinical questions, please contact Rady Children’s Health Orange County (formerly CHOC).