Questions about rare diseases?

Diagnostic Journey

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. The process of getting a rare disease diagnosis can take several years. Finding the right medical professionals to collect and make sense of your medical information can be challenging. Diagnosis may come through a primary care provider, or after specialized testing and referrals. Though the challenges are similar, everyone’s diagnostic journey is different because everyone’s story is too.

Your Medical Team
Appointments and Diagnostic Evaluations
Care Coordination
Rare Disease Experts
Your Medical Team
Appointments and Diagnostic Evaluations
Care Coordination
Rare Disease Experts

Your Medical Team

What should I expect when building a medical team?

Building a medical team can help speed diagnosis and improve medical care. The primary care provider (PCP) is usually the center of the team. Your health care providers may refer you to other specialists for evaluation and treatment of developing symptoms. Your medical team may change as your medical needs change over time.

Understanding which doctors treat which body systems can help you find the best care for your disease.

Members of the medical team for Chronic atrial and intestinal dysrhythmia syndrome may include:
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Additional specialists may include:

Appointments and Diagnostic Evaluations

Care Coordination

Coordination between patients, caregivers, and providers is important. Medical care is safer and more effective when your providers actively communicate with you and each other. Good coordination within your team can prevent unnecessary medical tests and can lead to better outcomes. You may need to sign consent for release forms to allow your providers to communicate with each other, so it is helpful to keep a list of providers and their contact information.

Care Coordinator Approach
Integrated Approach

Rare Disease Experts

How can I find an expert?

It can be hard to find experts as there may only be a few in your state, region, or country. Experts often work at large research or teaching hospitals. These hospitals rely on a group of experts, often with diverse training. Experts can help when a diagnosis remains unknown despite extensive efforts.

You can ask your medical providers for help finding an expert. You can also use directory tools to search.

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Rare Disease Experts

How can I find an expert?
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It can be hard to find experts as there may only be a few in your state, region, or country. Experts often work at large research or teaching hospitals. These hospitals rely on a group of experts, often with diverse training. Experts can help when a diagnosis remains unknown despite extensive efforts.

You can ask your medical providers for help finding an expert. You can also use directory tools to search.

Advocate for Yourself

Maintaining open and honest communication with your health care providers will prove crucial to helping you get the most out of the healthcare system, regardless of where you find yourself on the path to diagnosis.

For Those Who Have a Diagnosis

For Those With a Working Diagnosis

For Those Who Are Still Undiagnosed

GARD Information Specialists can help you find resources if you are still seeking a diagnosis.

Please contact GARD if you need additional assistance.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
GARD Information Specialists can help you find resources if you are still seeking a diagnosis.

Please contact GARD if you need additional assistance.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Living With the Disease

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

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Last Updated: February 2023