Photo Credit: Z Wei
Patients with rare inherited retinal diseases often must undertake a diagnostic odyssey before receiving a correct diagnosis.
“Patients with rare inherited retinal diseases (IRDs) often face multiple challenges in getting a correct diagnosis, including referrals to multiple specialists, multimodal evaluations, and difficulties with the healthcare system,” Malena Daich Varela, MD, notes. “The large percentage of patients who are unsatisfied with the support they received after being diagnosed with a potentially blinding condition is concerning.”
After people with rare IRDs first notice symptoms and seek medical care, they often spend years on a “diagnostic odyssey” before receiving an accurate diagnosis, researchers in the United Kingdom and Argentina report. Rare diseases affecting the eyes and the nervous system are known to take longer to diagnose than those affecting other systems, according to Dr. Daich Varela and colleagues.
For a study published in Ophthalmology, researchers analyzed the results of two anonymous, voluntary online surveys that asked patients with IRDs or their family members about their diagnostic odyssey and their satisfaction. Overall, 425 respondents from Latin America (39%) and 671 from the UK (61%) completed the survey. In both surveys, around 70% of respondents had retinitis pigmentosa, with Stargardt disease and Leber congenital amaurosis among other conditions reported.
“We present for the first time the experience of patients with IRD while reaching their diagnosis and getting support,” they wrote.
Insights Gained
In the Latin American Survey, 93% of participants were from Argentina; 88% were adults, with 60% under 45 years; and 73% had nonsyndromic retinitis pigmentosa.
- Patients reported the mean time between symptom onset and diagnosis was 6.4 years, and more than half (57%) waited longer than 1 year. Children were 2.1 times more likely compared with adults to wait more than 1 year for a correct diagnosis.
- 77% of patients received 1 or 2 incorrect diagnoses before a physician diagnosed them correctly, and 23% were given more than 3 diagnoses.
- Patients with 3 or more diagnoses were 4.2 times more likely to wait more than 1 year for the correct diagnosis than were those with 1 or 2 diagnoses.
- 78% reported having their diagnosis clearly explained to them; 76% reported being informed about the impact of their diagnosis on family members; and 41% were provided with useful online resources and patient organizations.
In the UK Survey, 84% were adults, with 14% aged less than 45 years; and 68% of respondents had isolated retinitis pigmentosa.
- 57% reported having the opportunity to ask questions; 42% thought the person diagnosing them knew enough about the condition.
- 46% reported that the diagnosing doctor showed empathy.
- 34% were informed about available support, and 10% were offered psychological support.
The authors acknowledge limitations of their study, including its retrospective design, the age differences between the populations, and the possibility of recall bias.
Improving Care for Patients
“It is our responsibility as doctors to learn from our patients and improve the quality of care we provide,” Dr. Daich Varela says. “We need to acquire better communication skills and take time to accompany our patients on their care journey with consideration and empathy.”
The researchers identified “clear areas of opportunity to improve the patient journey, and we suggest specific strategies to work towards that aim,” she notes. “We suggest improved accessibility to genetic testing, the development of clear guidelines and training for ophthalmologists on managing patients with IRDs, and the development of networks of specialized doctors.”
Dr. Daich Varela believes “it would be interesting to do these surveys in other countries and regions, to understand the challenges faced by different populations.”
She also notes that “working on our empathy skills is always relevant. As a quote often attributed to May Angelou says, ‘People will forget what you said, people will forget what you did, but people will never forget how you made them feel.’”
Key Takeaways
- The mean time between symptom onset and diagnosis was 6.4 years for patients with inherited retinal diseases
- Most survey respondents (70%) had retinitis pigmentosa
- Patients report varying degrees of provider knowledge, support, and access to resources
