Dr. Marla Black Morgan, a neurologist with Phoebe Neurology Associates in Albany, Georgia, has uncovered concerning disparities in the diagnostic journey of patients with generalized myasthenia gravis (gMG), a rare neuromuscular disorder. Her research, presented at the recent American Academy of Neurology annual meeting, highlights significant delays and barriers faced by racial and ethnic minority patients seeking diagnosis and treatment.
Striking Diagnostic Delays for Minority Patients
The most alarming finding from Project ASPIRE (eliminAte diSparities and Promote equIty in Rare diseasE) was the substantial difference in time to diagnosis between white patients and those from racial and ethnic minority groups. While both groups sought medical attention at similar timeframes after symptom onset, minority patients experienced an average four-month longer wait for an accurate diagnosis once they entered the healthcare system.
"When we say numbers, and we spout out the numbers, 'Oh, it's a difference of 18.6 months vs 14.5 months,' sometimes you miss the whole: that's 4 months of symptoms that a patient will have to endure before the diagnosis is made," Dr. Morgan explained.
This delay is particularly significant because gMG is a treatable condition, meaning patients suffer unnecessarily during this extended diagnostic period. The research also revealed that minority patients saw nearly five different healthcare providers before receiving a correct diagnosis, a number Dr. Morgan described as "shocking."
Higher Stress Burden on Minority Patients
The psychological impact of these delays was clearly documented in the study. A larger percentage of patients from racial and ethnic minority groups rated their diagnostic journey as "very stressful" or "stressful" compared to white patients. Most concerning was that the proportion of minority patients describing their experience as "very stressful" was almost double that of white patients.
"I do understand that their stress and anxiety level is higher, but we were able to demonstrate, again, in racial and ethnic minorities that from the patient's perspective, when they rate their journey as very stressful or stressful, that a larger percentage of those patients in racial and ethnic minority groups rate their journey that way," noted Dr. Morgan.
Key Barriers to Timely Diagnosis
The research identified several critical barriers contributing to diagnostic delays. The primary obstacle was the failure to recognize symptoms as being related to gMG – a challenge faced by both patients and healthcare providers.
"The number 1 item that patients rendered as a delay or a hindrance to diagnosis was actually recognition of their symptoms as a part of generalized myasthenia," Dr. Morgan stated. "That was both from a patient perspective, that, 'Hey, I may have arm and leg weakness, I don't realize that that may be a neurological disorder.' The same thing was true, though, if you look at the data in terms of doctor or physician recognition of their symptoms as a part of myasthenia gravis."
Additional barriers included:
- Difficulty accessing care, including logistical challenges in reaching physicians' offices
- Insurance coverage limitations for diagnostic tests
- Limited access to neurological subspecialists
- Problems with transferring medical records between healthcare systems, leading to duplication of tests and further delays
Dr. Morgan emphasized that these barriers are often magnified in rare disease cases like gMG compared to more common conditions: "I think that you may see less of a difference in more commonly seen disorders, just because more practitioners may make that diagnosis, say for Parkinson disease as compared to generalized myasthenia gravis."
Potential Solutions and Path Forward
The ASPIRE project didn't stop at identifying problems – it also sought recommendations from both patients and healthcare providers on addressing these disparities. Education emerged as the top priority for both groups, with a focus on improving symptom recognition.
Other suggested strategies included:
- Improving access to subspecialty care
- Addressing insurance coverage gaps for diagnostic testing
- Enhancing systems for transferring medical records between providers
- Implementing patient navigation services to help coordinate care and follow-up
Dr. Morgan noted that her practice has already implemented some of these approaches: "We try to have someone who can help you navigate through that process and to sort of serve as a person who checks behind to say if we needed to get these records or you needed to get this testing, can we make sure that you've gone for that lab appointment or have you gone for that electro diagnostic testing, or have we received those results?"
The findings from Project ASPIRE highlight the urgent need for healthcare systems to address disparities in rare disease diagnosis and treatment. By implementing targeted interventions to reduce diagnostic delays, the healthcare community can work toward ensuring all patients with gMG receive timely care, regardless of their racial or ethnic background.
