Heart defect-tongue hamartoma-polysyndactyly syndrome | Getting a Diagnosis | GARD

Questions about rare diseases?

For a person with a rare disease, receiving an accurate diagnosis may take several years. Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.

How can a diagnostic team help?

Building a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. Understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner.

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Diagnostic teams for Heart defect-tongue hamartoma-polysyndactyly syndrome may include:

Genetics

How can a diagnostic team help?

Building a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. Understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner.Building a team of providers to help you get the right diagnosis is an important early step in your rare disease journey. Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. Understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner.

imgAltText

Diagnostic teams for Heart defect-tongue hamartoma-polysyndactyly syndrome may include:

Genetics

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may 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. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist for help finding an expert.

You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may 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. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis.
Contact a GARD Information Specialist for help finding an expert.

You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases. Search NORD's Center Directory to find experts near you.

GARDGenetic and Rare Diseases
Information Center

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.

GARDGenetic and Rare Diseases
Information Center

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.

Last Updated: September 2024