Bobby Jones Chiari & Syringomyelia Foundation

Understanding the Diagnostic Gap in Ehlers-Danlos Syndrome and Syringomyelia

For many patients navigating Ehlers-Danlos Syndrome (EDS), syringomyelia, or related neurological and spinal conditions, one of the most frustrating aspects of the journey is this:

The symptoms are real—but the imaging doesn’t always reflect them clearly.

This disconnect, often referred to as the diagnostic gap, can delay answers, complicate care, and leave patients feeling uncertain about what is happening in their own bodies.

Understanding why this occurs is an important step toward improving both evaluation and treatment.

Modern imaging—particularly magnetic resonance imaging (MRI)—is a critical tool in evaluating spinal and neurological conditions. It allows clinicians to visualize structures such as:

• The brain and cerebellar tonsils (for Chiari malformation)
• The spinal cord (for syringomyelia)
• Alignment and structural abnormalities

However, imaging has limitations. Most MRI studies are performed in a static, supine (lying down) position, which may not reflect how the body functions during daily activities such as sitting, standing, or moving.

In conditions involving connective tissue laxity, such as EDS, structural changes may be:

• Subtle
• Position-dependent
• Dynamic rather than fixed

As a result, standard imaging may not fully capture the functional impact of instability or altered biomechanics.

In some patients, symptoms arise not from a single structural abnormality, but from how structures behave over time or under load.

Examples include:

• Changes in alignment when upright versus lying down
• Fluctuations in cerebrospinal fluid (CSF) flow
• Intermittent nerve compression or irritation
• Variability in autonomic nervous system regulation

These dynamic factors can contribute to symptoms such as:

• Head pressure or headaches
• Dizziness or fatigue
• Neurological changes
• Pain that fluctuates in intensity or location

Because these changes are not always visible on routine imaging, they may be underrecognized.

In syringomyelia, one of the most common points of confusion is the relationship between the size of the syrinx and the severity of symptoms.

Clinically, this relationship is not always linear.

• Some individuals with a small syrinx may experience significant symptoms
• Others with a larger syrinx may have relatively mild or stable findings

This variability reflects the complexity of spinal cord function and highlights the importance of evaluating:

• Symptom patterns
• Neurological function
• Changes over time

Not imaging alone.

Reference:
Klekamp J. (2015)
https://pubmed.ncbi.nlm.nih.gov/26076825/

Ehlers-Danlos Syndrome adds another layer of complexity.

Because EDS can affect multiple systems—including musculoskeletal, neurological, autonomic, and gastrointestinal—patients often present with:

• A wide range of symptoms that seem unrelated
• Symptoms that evolve over time, change and move locations in the body
• Overlapping conditions that may not be evaluated together

This can lead to care that is fragmented across specialties, where:

• One provider focuses on joints
• Another on neurological symptoms
• Another on autonomic dysfunction, gastrointestinal, etc.

Without integration, the broader pattern may be missed. No one provider is connecting the dots.

One of the most difficult experiences for patients is being told that imaging is “normal” or “unchanged,” while symptoms persist or worsen.

In clinical terms, “normal” may mean:

• No clear structural abnormality requiring immediate intervention
• No progression compared to prior imaging

However, it does not necessarily mean:

• That symptoms are not real
• That function is unaffected
• That further evaluation is unnecessary

This distinction is critical in complex conditions, where clinical judgment must extend beyond imaging findings.

One of the most frustrating parts of these conditions isn’t just the symptoms—it’s when the data exists, but no one knows what to do with it.

If your radiology report mentions possible Chiari or craniocervical instability (CCI) or related findings, but your providers say everything looks “normal,” you’re not alone. This disconnect is common in complex, multi-system conditions where interpretation requires specialized knowledge that not all providers have.

When this happens, patients often need to take a more active role in helping move their care forward. Here are a few practical ways to do that:

• Bring clear, credible information
  Share key findings from your report and, when appropriate, supporting medical literature to help guide more informed discussions.
• Confirm you have the right imaging
  Certain conditions may not appear clearly on standard scans. In some cases, dynamic imaging, contrast MRIs, or vascular studies can provide additional insight. Most MRIs will require to be done in an upright position, not laying down on your back, show better what’s really happening in your spine and require a special machine so look for an upright MRI facility near you.
• Organize your symptoms
  A short, structured summary of your symptoms—including severity, triggers, and daily impact—can help your care team better understand the full picture.
• Track what you’ve already tried
  Document treatments, therapies, and medications—and whether they helped, worsened symptoms, or made no difference.
• Use standardized assessment tools
  Measures like the Neck Disability Index (NDI) or other quality-of-life scales can translate your experience into clinical data providers recognize.
• Consider getting more expert, specialized opinions when appropriate
  In complex cases, consultation with providers who have specific expertise in these conditions may help clarify next steps. There are very few directories you can try like this one for CCI. Or try finding medical research paper authors or the BJCSF webinar library of experts. There is no official “board-certified specialist” list that exists today. Here are a few of the most prominently known names from published research:
  • Dr. Paolo Bolognese (NY)
  • Dr. Fraser Henderson (MD)
  • Dr. Sunil Patel (SC)
  • Dr. Ezriel Kornel (NY)
  • Dr. Vicenç Gilete (Barcelona)

While access to the experts can be limited and wait times long, these specialists often provide second opinions that can help clarify diagnosis and guide a local care provider.

• Build your understanding over time
  This is where your voice and self-advocacy skills will shine. Learning more about your condition can help you ask targeted questions and participate more confidently in care decisions.

The goal isn’t to become so well informed that you challenge your providers, it’s to give them clearer, more complete information so they can better support you.

Improving outcomes for patients with EDS, syringomyelia, and related conditions requires a more integrated approach to evaluation.

Key considerations include:

1. Symptom Patterns Over Time

Tracking how symptoms evolve, fluctuate, or respond to activity can provide important clinical insight. Use this free pain and symptom tracker template to help track and share results with your providers.

2. Comprehensive Imaging (When Appropriate)

In some cases, additional imaging approaches may be considered, such as:

• Full spine MRI
• Evaluation of CSF flow
• Position-dependent imaging (when clinically indicated)

3. Multidisciplinary Collaboration

Coordinated care across specialties—such as neurology, neurosurgery, genetics, and rehabilitation—can help connect findings that may otherwise remain siloed.

4. Patient-Reported Experience

Patient history and lived experience are essential components of diagnosis, particularly when objective findings are subtle.

BJCSF continues to support efforts that bring together clinicians and researchers to better understand these diagnostic challenges. By fostering collaboration across specialties and supporting ongoing research, BJCSF contributes to:

• Improved recognition of complex symptom patterns
• More refined diagnostic approaches
• Greater alignment between clinical findings and patient experience

These efforts are essential in narrowing the diagnostic gap and improving care for patients with conditions that do not fit traditional models.

For patients, the diagnostic gap is not just a clinical concept—it is a lived experience.

It can mean:

• Years without clear answers
• Repeated evaluations without resolution
• Feeling that symptoms are not fully understood

Bridging this gap is not about replacing imaging, but about placing it in the proper context—as one piece of a larger clinical picture.

In the next article, we will explore how symptoms in these conditions can change day to day—and why factors such as heat, weather, and autonomic regulation play a significant role in how patients feel.

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Support from our community makes this work possible. The Bobby Jones Chiari & Syringomyelia Foundation (BJCSF) relies on donations to advance research, bring together leading experts, and provide trusted education and resources for patients and families navigating these complex conditions. If you would like to help move this work forward, we invite you to make a contribution here.

This May awareness content series, along with the Crafting Healing Narratives video course, is a collaborative effort between patient advocate and author Christie Cox and the Bobby Jones Chiari & Syringomyelia Foundation (BJCSF). Together, this partnership brings both lived experience and clinical insight to help patients better understand complex conditions, navigate their care, and find meaningful ways to process and share their stories. We hope you have enjoyed it.

To read more from Christie or to subscribe for her weekly digest of her writing, programming and events, go to https://authory.com/ChristieCox. Stay tuned for her new book due out later in 2026 on special nervous system regulation skills critical with chronic conditions that often include dysregulation and autonomic dysfunction.

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Awareness Begins With You

Heat, Weather, and Flares

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