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:

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Can I expand my medical team?

Working With Your Doctor

Document Personal Medical History

Resources:

Document Personal Medical History

Collect Family History

Prepare Questions

Plan for the End of the Visit

Medical History and Physical Exam

Medical History and Physical Exam

Genetic Testing

Clinical Procedures

Laboratory Tests

Proteinuria

Hemoglobinuria

Unconjugated hyperbilirubinemia

Hemosiderinuria

Decreased serum iron

Glycosuria

Increased blood urea nitrogen

Increased circulating lactate dehydrogenase concentration

Imaging Studies

No Diagnosis

Working Diagnosis

Confirmed Diagnosis

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?
Salesforce Alt Text

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

For Those With a Working Diagnosis

For Those Who Are Still Undiagnosed

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

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Find resources for patients and caregivers that address the challenges of living with a rare disease.

Last Updated: February 2023