Questions about rare diseases?
1-888-205-2311
Questions about rare diseases?
1-888-205-2311

Diagnostic Journey

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.

Your Diagnostic Team

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 Stickler syndrome may include:

Your Diagnostic Team

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.
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Diagnostic teams for Stickler syndrome may include:

Rare Disease Experts

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 following organization(s) may maintain a list of experts or expert centers for people living with Stickler syndrome:

Rare Disease Experts

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 following organization(s) may maintain a list of experts or expert centers for people living with Stickler syndrome:

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.
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
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.
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
Use the contact form to send your questions to a GARD Information Specialist.

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

Learn about symptoms, cause, support, and research for a rare disease. 

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

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Last Updated: September 2024