Rare Disease Day at NIH Logo
Registration for this year's Rare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Questions about rare diseases?

Diagnostic Journey

For a person with a rare disease, the process of finding the right diagnosis can take several years. Working with an engaged and dedicated primary care provider (PCP) is important. PCPs who specialize in treating children are called pediatricians. Your PCP or pediatrician can order diagnostic tests or refer you to specialists. Your PCP or pediatrician is often the connecting point for multiple specialists. Building a medical team that communicates can help you receive a diagnosis faster and improve care.

Use this tool to find a primary care provider.
Care Compare [Medicare]
Find a PCP in your area by inputting your location and keyword "Primary Care Provider (PCP)."

Use this tool to find a pediatrician.
Find a Pediatrician [American Academy of Pediatrics]
Find a pediatrician in your area by inputting your location.

Your Diagnostic Team

How can a diagnostic team help?
Building the right diagnostic team is an important early step in your diagnostic journey. Your diagnostic team is the group of providers who are responsible for helping you to get the right diagnosis. Some care providers have advanced medical training in different body systems or types of diseases. This training allows them to provide specific diagnostic procedures in their area of expertise. Understanding which providers can best support your diagnostic journey can help you build a strong team dedicated to getting you the correct diagnosis.
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Members of the diagnostic team for Autosomal recessive cutis laxa type 1 may include:

Your Diagnostic Team

How can a diagnostic team help?
Building the right diagnostic team is an important early step in your diagnostic journey. Your diagnostic team is the group of providers who are responsible for helping you to get the right diagnosis. Some care providers have advanced medical training in different body systems or types of diseases. This training allows them to provide specific diagnostic procedures in their area of expertise. Understanding which providers can best support your diagnostic journey can help you build a strong team dedicated to getting you the correct diagnosis.Building the right diagnostic team is an important early step in your diagnostic journey. Your diagnostic team is the group of providers who are responsible for helping you to get the right diagnosis. Some care providers have advanced medical training in different body systems or types of diseases. This training allows them to provide specific diagnostic procedures in their area of expertise. Understanding which providers can best support your diagnostic journey can help you build a strong team dedicated to getting you the correct diagnosis.
imgAltText
Members of the diagnostic team for Autosomal recessive cutis laxa type 1 may include:

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP or diagnostic specialists, it can be challenging to know what kind of expert you need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. This can give them access to larger groups of experts with diverse training. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist if you need further help finding an expert.

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Rare Disease Experts

How can you find a rare disease expert?
Salesforce Alt Text

If a diagnosis remains unknown despite extensive efforts by your PCP or diagnostic specialists, it can be challenging to know what kind of expert you need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. This can give them access to larger groups of experts with diverse training. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist if you need further help finding an expert.

Finding the right health care provider or getting the correct diagnosis may prove challenging. GARD can help. Contact a GARD Information Specialist to receive the individualized support you may need.
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.
Finding the right health care provider or getting the correct diagnosis may prove challenging. GARD can help. Contact a GARD Information Specialist to receive the individualized support you may need.
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: January 2024