How Can I Get a Diagnosis?

Getting a diagnosis requires that the right information gets before the right professional. Most of the important information used to diagnose a rare disease, comes from you. Finding the right medical professionals to collect and make sense of the information, can be challenging. Everyone’s journey is different because everyone’s story is too. Answers may come through a front-line health care service, such as a primary care doctor, or only after specialized testing and referrals. Here, discover the type of medical professionals that can help, tools for finding them, and tips for getting the most out of your care as you navigate to a diagnosis.

How Can I Get a Diagnosis?

Getting a diagnosis requires that the right information gets before the right professional. Most of the important information used to diagnose a rare disease, comes from you. Finding the right medical professionals to collect and make sense of the information, can be challenging. Everyone’s journey is different because everyone’s story is too. Answers may come through a front-line health care service, such as a primary care doctor, or only after specialized testing and referrals. Here, discover the type of medical professionals that can help, tools for finding them, and tips for getting the most out of your care as you navigate to a diagnosis.

Building Your Medical Team

What specialists care for patients with this disease?
Building a medical team can help speed diagnosis and improve medical care. The primary care physician (PCP) is usually the center of the team. The involvement of other specialists depends on the type of symptoms or the need for special evaluations or treatments. The need for different specialists may change over time.
Members of the medical team for this disease may include:

A primary care provider (PCP) serves as the first line of care. PCPs diagnose and treat common conditions, manage a patient’s overall health, and provide referrals to specialists. Types of PCPs include doctors practicing general medicine, family practice, pediatrics, internal medicine, and geriatrics. Nurse practitioners and physician assistants may also serve as PCPs.

Find government-funded primary care services through HRSA Find a Health Center (directory by the Health Resources and Services Administration).

Find a pediatrician in your area for patients 21 and younger (directory by the American Academy of Pediatrics).

Genetic specialists (geneticists) are trained to diagnose, treat, and manage patients with genetic changes, birth defects, or metabolic disorders. Metabolic disorders result from changes in the way a person’s body makes or uses energy. Along with genetic counselors, geneticists commonly discuss family history, genetic risks, genetic testing options, and genetic test results.

Find a genetic specialist in your area (directory by the American College of Medical Genetics and Genomics).

A pediatrician is a doctor who has specialized training to care for the overall health and development of children from birth to young adulthood. Pediatricians are a type of primary care doctor.

Specialists in pediatrics may do extra training to provide a diagnosis, treat, and care for children who have a disease within a specific specialty field. For example, there are pediatric cardiologists, pediatric dermatologists, and pediatric geneticists.
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Can I expand my medical team?

Ear, nose, and throat (ENT) doctors (otolaryngologists) are trained to diagnose, treat, and manage diseases of the head and neck, especially those involving the ear, nose, and throat. Otolaryngologists can help patients with infections, swallowing issues, hearing and balance issues, and cancer. Treatments performed by otolaryngologists may include surgical or non-surgical techniques.

Find an otolaryngologist in your area (directory by the American Academy of Otolaryngology-Head and Neck Surgery).

Bone doctors (orthopedists or orthopedic surgeons) are trained to diagnose, treat, and manage diseases of the bones, muscles, tendons, ligaments, and joints. Orthopedists may manage patients using surgical or non-surgical techniques. They can treat sports injuries, arthritis, scoliosis, and broken bones. They commonly order tests to help identify the specific injury or condition. They also help patients who are in pain or who have trouble moving.

Find an orthopedist in your area (directory by the American Academy of Orthopaedic Surgeons).

Mouth, jaw, and face surgeons (maxillofacial surgeons) are trained to diagnose, treat, and manage conditions involving the mouth, teeth, jaw, face, and neck. They commonly treat patients with dental problems and cancers of the head and neck. They also treat patients with injuries to the mouth, jaw, and face. Maxillofacial surgeons may operate to reduce pain, repair injuries, improve appearance, and restore or improve function.

Find a maxillofacial surgeon in your area (directory by the American Association of Oral and Maxillofacial Surgeons).

Women’s health doctors (obstetricians/gynecologists or Ob-Gyns) are trained to diagnose and treat diseases of the female reproductive system. Gynecology involves the care of a woman’s reproductive organs and health. Obstetrics involves the care of women during pregnancy and birth. Ob-Gyns commonly order tests to monitor pregnancies and to help with the early detection, prevention, and management of conditions such as endometriosis, cysts, and cancer.

Find a gynecologist / obstetrician in your area (directory by the American College of Obstetricians and Gynecologists).

Urinary system doctors (urologists) are trained to diagnose, treat, and manage diseases affecting the urinary tract of both males and females. The urinary tract includes the kidneys, ureters, and bladder. Urologists also manage conditions affecting the reproductive system of males. Urologists commonly treat urinary tract infections, kidney stones, bladder control problems, prostate problems, and cancer. They may use medications or surgery to treat patients.

Find a urologist in your area (directory by the American Urological Association).

Surgical doctors (surgeons) are trained to diagnose, treat, and manage conditions that may require surgery. They commonly remove and repair damaged tissue or organs. Surgeons can also perform operations that help doctors learn more about a condition.

Find a surgeon in your area (directory by the American College of Surgeons).

Circulatory system doctors (vascular medicine specialists) are trained to diagnose, treat, and manage diseases involving the vessels that move blood around the body (arteries, veins, and capillaries). Vascular medicine specialists also manage diseases involving the lymphatic system which maintains fluid levels in the body and protects the body from infection. Vascular medicine specialists commonly use clinical exams, imaging tests, and blood tests to diagnose diseases. They can manage blood vessel disorders using diet, exercise, medication, and surgery.

Please consult your primary care doctor for help finding a vascular medicine specialist.

Rheumatologists are doctors trained to diagnose, treat, and manage diseases of inflammation caused when the body’s immune system does not work properly. Autoimmune diseases and autoinflammatory diseases are often treated by rheumatologists. Rheumatologists commonly use biopsy, blood tests, heart and muscle function tests, and a variety of imaging tests to diagnose these diseases. Rheumatologists may use medications that calm the body's immune system, physical therapy, occupational therapy, and regular monitoring to manage these conditions.

Find a rheumatologist in your area (directory by the American College of Rheumatology).

Lung and breathing doctors (pulmonologists) are trained to diagnose, treat, and manage diseases of the lungs and airways. They commonly use blood tests, breathing tests, imaging, and sleep studies to make a diagnosis. Pulmonologists may use medications or exercise and breathing techniques (known as lung rehabilitation) to treat diseases of the lung.

Please consult your primary care doctor for help finding a pulmonologist.

Mental health specialists (psychiatrists) are trained to diagnose, treat, and manage diseases that affect mental, emotional, and behavioral health. Like other mental health professionals, psychiatrists can provide therapy to address emotional and behavioral issues. Because psychiatrists are medical doctors, they can also prescribe medications when needed.

Find a psychiatrist in your area (directory by the American Psychiatric Association).

Eye doctors (ophthalmologists) are trained to diagnose, treat, and manage diseases of the eye. They can treat all eye and vision conditions including those needing surgery. Both ophthalmologists and optometrists are an important part of a vision care team, but ophthalmologists have additional training.

Find an ophthalmologist in your area (directory by the American Academy of Ophthalmology).

Cancer doctors (oncologists) are trained to diagnose, treat, and manage cancers and conditions that could become cancerous over time. They commonly work with a team of healthcare providers to manage care. Oncologists often specialize in a specific type of cancer such as breast cancer or colon cancer. Treatments suggested by oncologists may include surgery, chemotherapy, radiation, or treatments that help a person’s immune system fight cancer (immunotherapy).

Find an oncologist in your area (directory by the American Society of Clinical Oncology).

Kidney doctors (nephrologists) are trained to diagnose, treat, and manage diseases that affect the kidneys. Kidney conditions may also affect blood pressure or fluid and mineral balances in the body. Nephrologists commonly treat patients with kidney stones, kidney infections, chronic kidney disease, and kidney failure. They may order blood tests, urine tests, and imaging studies to diagnose diseases of the kidneys and to monitor how well treatments are working. They can also help manage the impact of kidney conditions on the rest of the body.

Please consult your primary care doctor for help finding a nephrologist.

Infectious disease doctors are trained to diagnose, treat, and manage diseases caused by bacteria, viruses, fungi, or parasites. They can test a sample of the infected tissue to help diagnose the specific infection and to determine the best treatment. Treatment may include medications that can be taken by mouth, injected, inserted directly into a vein (intravenous), or applied to the skin.

Please consult your primary care doctor for help finding an infectious disease specialist.

Allergists / Immunologists are trained to diagnose, treat, and manage diseases that affect the immune system. The immune system protects the body against harmful substances. Allergists/Immunologists commonly treat patients with asthma, allergies, and chronic infections. They use blood tests and skin tests to identify substances which can trigger an immune response. They often prescribe medications to treat allergies or infections.

Find an allergist / immunologist in your area (directory by the American Academy of Allergy, Asthma, & Immunology).

Blood system doctors (hematologists) are trained to diagnose, treat, and manage diseases that affect the blood and the bone marrow (where blood cells are made). They also treat certain diseases of the lymphatic system (spleen and lymph tissues) which maintains fluid levels and protects the body from infection. Hematologists treat anemia, bleeding disorders, blood clotting disorders, and blood cancers. They often order blood tests or bone marrow biopsies to help them learn more about a person’s condition.

Find a hematologist in your area (directory by the American Society of Hematology).

Endocrinologists are trained to diagnose, treat, and manage diseases related to hormones. Hormones help coordinate the body’s activities. Endocrinologists commonly treat patients with conditions such as diabetes, thyroid disorders, and certain cancers. They also treat patients with concerns about growth or sexual development. Endocrinologists may use medications, hormone therapy, or surgery to treat patients.

Find an endocrinologist in your area (directory by the Endocrine Society).

Heart doctors (cardiologists) are trained to diagnose, treat, and manage diseases that affect the heart and blood vessels. Cardiologists commonly use monitors to track heart activity and imaging to look directly at the heart and blood vessels. Cardiologists may suggest specific lifestyle changes as a form of treatment. In some cases, cardiologists will perform surgery to correct physical defects of the heart or implant devices to manage heart activity.

Find a cardiologist in your area (directory by the Heart Rhythm Society).

Gastrointestinal (GI) specialists (gastroenterologists) are trained to diagnose, treat, and manage diseases that affect the digestive system. The digestive system includes the esophagus, stomach, intestines, pancreas, gallbladder, and liver. Gastroenterologists commonly use flexible tubes with built-in cameras to examine the inside of the digestive tract.

Find a gastroenterologist in your area (directory by the American College of Gastroenterology).

Skin doctors (dermatologists) are trained to diagnose, treat, and manage diseases that affect the skin, hair, and nails. Dermatologists can learn a lot about the body by examining the skin. They commonly treat skin infections, hair loss, rashes, eczema, and skin cancer. Dermatologists may collect skin samples to help diagnose a condition. Medications, radiation, UV light therapy, and surgery may be used as treatments.

Find a dermatologist in your area (directory by the American Academy of Dermatology Association).

Neurologists are trained to diagnose, treat, and manage diseases that affect the nervous system. The nervous system controls the body’s functions and is made up of the brain, spinal cord, and nerves. Neurologists commonly treat patients with thinking and memory issues, seizures, movement disorders, and muscular dystrophies. Neurologists often order tests that measure electrical activity or tests that provide images of the inside of the brain or spine.

Please consult your primary care doctor for help finding a neurologist.

Working With Your Doctor

Document Personal Medical History

A personal medical history is very important when seeing doctors during the diagnostic process. Write down when symptoms began, how the symptoms changed over time, previous doctor visits and tests, and any treatments that have been tried. Keep a record of other past medical history, such as illnesses, allergies, surgeries, injuries, or other diagnoses.
Resources:

Document Personal Medical History

A personal medical history is very important when seeing doctors during the diagnostic process. Write down when symptoms began, how the symptoms changed over time, previous doctor visits and tests, and any treatments that have been tried. Keep a record of other past medical history, such as illnesses, allergies, surgeries, injuries, or other diagnoses.

Collect Family History

A family history includes health information about a patient's close relatives. Patterns in a family history can provide clues to a doctor that may lead to a diagnosis more quickly.

Prepare Questions

Writing down questions before a doctor's visit can help make the most of the time with the doctor. Decide which questions are most important to have answered. Leave space to jot down the answers during the visit.

Plan for the End of the Visit

At the end of a visit, a doctor usually discusses the next steps needed to make a diagnosis. Steps may include getting lab work, special tests, or referrals to a specialist. Treatments may be prescribed to help manage symptoms. Plan questions to ask at the end of the visit to make certain everything is clear before leaving the doctor's office.

Medical History and Physical Exam

To begin the diagnostic process, a doctor or other health care provider will take a medical history by asking questions about the patient's current symptoms and diagnoses. They also commonly ask about the past medical history, medications, allergies, the patient's social history, and the family's medical history. If available, the doctor may also review a patient's medical records including the results of previous tests and procedures.

During the physical exam, the doctor will study the patient's body to look for physical signs of a medical problem. The methods used during the exam may differ depending on the symptoms but commonly involve:
  • Checking a person's vital signs, including temperature, heart rate, breathing rate, blood pressure, weight, and height. 
  • Looking at a person's body to check for normal findings and any changes that may indicate a diagnosis.
  • Touching areas of a person's body to check for pain, tenderness, swelling, lumps, masses, or other changes.
  • Listening to internal body sounds to check the heart, lungs, or abdominal organs.
  • Tapping on specific areas of the body to check for the presence of air, liquid, or solid structures.
  • Evaluating the neurological system by checking the reflexes, nerves, coordination, sensory function, and motor function, such as strength and balance. 
Depending on the results of medical history and physical exam, the doctor may then decide whether lab tests, imaging studies, clinical procedures, or referrals to other medical specialists are needed to diagnose the cause of the patient's health problems.

Medical History and Physical Exam

To begin the diagnostic process, a doctor or other health care provider will take a medical history by asking questions about the patient's current symptoms and diagnoses. They also commonly ask about the past medical history, medications, allergies, the patient's social history, and the family's medical history. If available, the doctor may also review a patient's medical records including the results of previous tests and procedures.

During the physical exam, the doctor will study the patient's body to look for physical signs of a medical problem. The methods used during the exam may differ depending on the symptoms but commonly involve:
  • Checking a person's vital signs, including temperature, heart rate, breathing rate, blood pressure, weight, and height. 
  • Looking at a person's body to check for normal findings and any changes that may indicate a diagnosis.
  • Touching areas of a person's body to check for pain, tenderness, swelling, lumps, masses, or other changes.
  • Listening to internal body sounds to check the heart, lungs, or abdominal organs.
  • Tapping on specific areas of the body to check for the presence of air, liquid, or solid structures.
  • Evaluating the neurological system by checking the reflexes, nerves, coordination, sensory function, and motor function, such as strength and balance. 
Depending on the results of medical history and physical exam, the doctor may then decide whether lab tests, imaging studies, clinical procedures, or referrals to other medical specialists are needed to diagnose the cause of the patient's health problems.

Genetic Testing

A doctor may use a genetic test to help diagnose this disease.

What is a genetic test?
A genetic test looks for changes in a person’s DNA that are known to cause a disease or medical problem. There are different types of genetic tests and different reasons that a genetic test may be ordered. In many cases, genetic tests are used to confirm or rule out a diagnosis.

What do I need to know about getting a genetic test?
The steps to get a genetic test may vary slightly, but may include:

Talking to a Doctor
Genetic tests may be ordered by a primary care physician (PCP), a geneticist, or other specialist. Talking to a PCP about testing options, and possibly seeing a specialist is an important first step.

Understanding Informed Consent
Informed consent for a genetic test involves learning the details, risks, and limitations of the test. Important information about the test includes the genes that are being tested, the type of sample needed, the accuracy of the test, and how the results will be reported.

Even genetic tests have risks. For example, the test result may be unclear, and your doctor may suggest further tests, or find something unexpected. Questions about a genetic test should be answered before signing an informed consent form.

Getting the Test
Genetic tests use a sample of blood, saliva, or other tissue. The sample may be taken at a doctor’s office or a local lab. The sample is often mailed to a specialized genetic lab to be tested. It can take days to many weeks for the results to be returned. Results may be given during a follow-up visit with a medical provider or by phone.

How do I understand my test results?
Genetic tests usually report genetic changes as pathogenic, benign, or unknown variants.
  • Pathogenic variant means the genetic change is known to cause a disease or health problem.
  • Benign variant means the genetic change does not cause a disease or health problem.
  • Variant of Uncertain Significance (also called VUS) means it is currently not known whether the genetic variant causes a disease or health problem.
The doctor who ordered the test or a genetic counselor will explain if the test found the cause of the disease. They will also explain the details of the result and discuss next steps. Depending on the type of genetic test and the reason for doing the test, further genetic testing may be done.

Clinical Procedures

Talk to a doctor to learn if any clinical procedures are suggested to diagnose or manage this disease.

Clinical procedures may measure body processes or look for signs of a disease that can help determine a diagnosis. Other procedures may be done to manage symptoms or treat the disease. The type of clinical procedures recommended by a doctor will depend on the patient's symptoms and the part or process of the body being evaluated or treated.

If a doctor recommends a clinical procedure, additional information about the procedure may be available on Medical Tests [MedlinePlus].

Laboratory Tests

Talk to a doctor to learn if any laboratory tests are suggested to diagnose or manage this disease.

Laboratory (lab) tests check a sample of a patient's blood, urine, or body tissues for signs of medical problems. The findings or results of lab tests can provide a doctor with information to help diagnose or manage a disease. The type of lab tests performed will depend on a patient's symptoms and the diseases being considered.

If a doctor recommends a lab test, additional information about the test may be available on Medical Tests [MedlinePlus].

 

Imaging Studies

Talk to a doctor to learn if any imaging studies are suggested to diagnose or manage this disease.

Diagnostic imaging studies let doctors look inside a patient's body for clues to help diagnose or manage a disease. The type of imaging study a doctor chooses depends on a patient's symptoms and the part of the body being examined.

If a doctor recommends an imaging study, additional information about the study may be available on Diagnostic Imaging [MedlinePlus].

After the initial medical tests and visits to specialists are complete, a doctor will review the results and reports in a follow up visit. At this visit, a patient may have:  

No Diagnosis

Test results and evaluations by specialists may rule out the most likely diagnosis. When this happens, a patient and their doctor will repeat the diagnostic process. The result of initial testing may sometimes be inconclusive; and such an outcome is not unusual because diagnosing rare diseases often relies on physical clues and findings that are hard to detect. More tests and specialist referrals may be needed to find the right diagnosis.

Working Diagnosis

Initial test results and evaluations by specialists may not be enough to confirm a suspected diagnosis but may support it being the likely or working diagnosis. A doctor may order more specialized tests and refer to other specialists to rule out other diseases. A working diagnosis may also help a doctor offer treatment options.

Confirmed Diagnosis

Test results and evaluations by specialists may confirm the suspected diagnosis. Evaluations by other specialists and further testing may still be needed to check for complications or medical problems associated with a disease. Specialists may also be involved in developing a treatment and management plan.

Coordinating Your Medical Team

Communication between patients, family members, and doctors is important. Medical care is safer and more effective when doctors communicate with the patient and with one another. Good communication can prevent unnecessary medical tests and lead to better outcomes. Patients may need to sign release forms to allow doctors to communicate with each other, so it is helpful to keep a list of providers and their contact information.

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Coordinating Care

Are my doctors communicating with each other?

Often, multiple specialists are needed to diagnose and care for a person with a rare disease. Communication between doctors can shorten the time to diagnosis and ensure that a care plan meets all of the patient’s needs. Primary care providers (PCPs) usually serve as care coordinators. They maintain the patient's medical records and share information with different specialists.

In some cases, a patient or caregiver may take on the role of care coordinator. Patient organizations typically have resources to help patients and family members manage this role.

Find a primary care doctor using Care Compare by choosing "General practice" or "Internal medicine" as the Specialty (directory by the Centers for Medicare & Medicaid Services)

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Multidisciplinary Care Centers

When to seek care at a major university center?

Patients searching for a diagnosis may benefit from contacting specialists at a large research or teaching hospital. These hospitals tend to have the latest technologies. Doctors in the same hospital are more likely to work together to diagnose and treat patients.

Find hospitals in your area by choosing "Hospitals" and entering your zip code into Care Compare (directory by the Centers for Medicare & Medicaid Services)

Finding a Rare Disease Expert

How can I find an expert or center of excellence?

Experts can help when a diagnosis remains unknown despite extensive work-up. Experts often work at large research or teaching hospitals. Some hospitals offer centers of excellence. These centers rely on a group of experts, often with diverse training. The experts use their combined knowledge and skills to care for patients. 

It can be hard to find experts. There may only be a few in your state, region, or country. You can ask your doctor for help finding one. You can also use directory tools to search.

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Finding a Rare Disease Expert

How can I find an expert or center of excellence?
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Experts can help when a diagnosis remains unknown despite extensive work-up. Experts often work at large research or teaching hospitals. Some hospitals offer centers of excellence. These centers rely on a group of experts, often with diverse training. The experts use their combined knowledge and skills to care for patients. 

It can be hard to find experts. There may only be a few in your state, region, or country. You can ask your doctor for help finding one. You can also use directory tools to search.


Taking Next Steps

What if I still can not get diagnosed?

Patients with a known or suspected rare disease may continue to face challenges even after taking all of the steps outlined above. Those who receive a diagnosis will learn that many rare diseases do not yet have a cure or an effective treatment. Many will remain undiagnosed even after being evaluated by many different doctors. The information below can help patients at any point in the diagnostic process.

For Those Who Have a Diagnosis

While a diagnosis may come as a relief, it can also come with questions and concerns. Though many rare diseases do not have a cure, research is ongoing and new treatments are constantly being developed. Even when a cure does not exist, specific symptoms can often be managed. Connecting with other patients who have received the same diagnosis can be a great source of information, resources, and support.

GARD lists patient organizations on our rare disease pages.

For Those With a Working Diagnosis

A working diagnosis means the doctor has a good idea about the cause of a patient's symptoms, but not enough evidence to say for certain. Monitoring changes in a patient’s health and responses to various treatments may offer further clues. It is important to track new and ongoing symptoms, follow the management plan, and continue meeting regularly with the doctors. Additional testing and referrals may be needed to make a firm diagnosis. 

Working Diagnosis: Discuss What Happens Next by Asking These Key Questions (Society to Improve Diagnosis in Medicine)

For Those Who Are Still Undiagnosed

Some will remain undiagnosed despite an extensive medical work-up. Many doctors have limited experience diagnosing rare diseases. In addition, rare diseases can have symptoms that are hard to detect or that may have many possible causes. In some cases, patients may have more than one condition. It is very important to keep meeting with the doctors. More tests and specialist referrals may be needed. Research opportunities and programs focused on the undiagnosed may offer additional ways to solve medical mysteries.

Ask GARD for Additional Resources

Please contact GARD if you need help. Our Information Specialists can provide resources for those still seeking a diagnosis.

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Last Updated: Nov. 8, 2021