Connective Tissue Disorders

Joint hypermobility, chronic pain, fragile skin, unexplained vascular findings, and a long history of symptoms no one has connected are real experiences, and they may point to an underlying genetic connective tissue disorder. The right diagnosis can change everything: your treatment decisions, your family planning, and the profound relief of finally understanding what has been happening in your body.

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We help clarify complex presentations, guide appropriate genetic testing, and provide comprehensive support for you and for the family members who may also be at risk. We work alongside your medical team so your genetic findings are integrated into your overall care. All of this happens through telehealth, with no referral and no waitlist.

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You might be a fit if:

• You have been told you are hypermobile, or you score high on the Beighton scale

• You live with chronic joint pain, frequent dislocations, or joints that feel unstable

• Ehlers-Danlos syndrome, Marfan syndrome, or another connective tissue disorder has been suspected or mentioned to you

• You have a family history of connective tissue problems, aortic aneurysm, or sudden unexplained death

• Your symptoms cross several systems, such as skin, joints, gut, heart, and autonomic, and no single specialist has tied them together

• You already have a diagnosis and want help understanding your subtype, your testing, or what it means for your family

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What working with us looks like

We start by reviewing your personal and family history in depth, across every system your symptoms touch. From there we assess your risk, talk through whether genetic testing is appropriate, and help you choose the right panel with a quality lab, usually with an at-home sample collection so you never leave your house. When results come back, we explain them in plain language, including variants of uncertain significance, and give you a written summary with clear next steps for you and your care team.

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What genetic testing can and cannot tell you

We will always be straight with you about this, because it matters. For several connective tissue disorders, including vascular EDS, classical EDS, Marfan syndrome, and Loeys-Dietz syndrome, genetic testing can confirm a diagnosis, clarify the subtype, and identify risks that change how closely you are monitored. Some of these subtypes, like vascular EDS, carry serious risks to blood vessels and organs, which is exactly why identifying them early is so important.

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Hypermobile EDS is different. It is the most common type, and there is currently no genetic test that can confirm it. Diagnosis is made clinically, using the 2017 international criteria. We help you understand which situation applies to you, so you are not paying for a test that cannot answer your question, and so you know what a negative result does and does not rule out.

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An honest note about diagnosis

Please note: while genetic counseling provides invaluable guidance, an in-person physical examination by a medical geneticist remains the gold standard for evaluating suspected connective tissue disorders. We strongly recommend pursuing this whenever possible. Think of us as the person who helps you prepare for that step, choose and understand your testing, and make sense of what you learn along the way.

 

Conditions we help evaluate

• Hypermobile EDS and hypermobility spectrum disorders (HSD)

• Classical, vascular, and other Ehlers-Danlos subtypes

• Marfan syndrome

• Loeys-Dietz syndrome

• Other heritable connective tissue and aortopathy conditions

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Why patients come to us

• Appointments in 1 to 2 weeks, with no waitlist

• A board-certified genetic counselor who takes the time to listen and never rushes your visit

• Real familiarity with the connective tissue and EDS community

• Telehealth from the comfort of home, with no referral required

• We coordinate with your other providers and send them a clinical summary, so your care stays connected

 

Common questions

Can genetic testing diagnose Ehlers-Danlos syndrome?

It depends on the subtype. For most subtypes, such as vascular, classical, and other rarer forms, testing can confirm the diagnosis and identify the specific gene involved. For hypermobile EDS, the most common form, there is no confirmatory genetic test yet, and diagnosis is clinical. We help you understand which path fits your situation before you move forward with testing.

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Do I need a referral or an existing diagnosis to book?

No. You can come to us with a suspicion, a symptom no one has explained, or results you already have. There are no referrals, no waitlists, and no gatekeeping.

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What happens if my results are negative or show a variant of uncertain significance?

A negative result does not always rule a condition out, and an uncertain variant is not a dead end. We walk you through exactly what your result means, what it does not mean, and what reasonable next steps look like, including whether testing family members or revisiting the result later could help.

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Start your path to clarity

You have been searching for answers, and we are here to help you find them.

Not sure whether testing is right for you? Book a free 10-minute discovery call and we will help you figure out the best next step.

Ready to begin? Schedule your Connective Tissue Disorders consultation and we will take it from there.​​​