Steven Wolf, MD, and Patricia McGoldrick, NP, MPA, MSN, offered their perspectives into the value of awareness days for rare disease communities and the potential to improve the diagnosis of LGS.
With Rare Disease Day not too far past, many rare disease organizations have banded together to raise awareness for their respective disorders. One such organization is the Lennox-Gastaut syndrome (LGS) Foundation, which seeks to improve the lives of patients with the rare epilepsy.
Although the effort to support these patient communities has been spearheaded by advocacy organizations and groups, the clinician and physician community has also played a role in raising public awareness for a number of diseases and disorders that they regularly treat. Steven Wolf, MD, pediatric neurologist and director, pediatric epilepsy program, Boston Children’s Health Physicians; and Patricia McGoldrick, NP, MPA, MSN, nurse practitioner and director, Pediatric Epilepsy Unit, Boston Children’s Health Physicians, are two such clinicians who have sought to support the LGS community in earnest.
To find out more about the importance of awareness days for patients with LGS, as well as the potential of improving the diagnostic process—which can often plague patients and their families with delays—with a novel tool such as REST-LGS, NeurologyLive® inquired with Wolf and McGoldrick.
Steven Wolf, MD, and Patricia McGoldrick, NP, MPA, MSN: Awareness days like Rare Disease Day provide an important moment in time for members of the Lennox-Gastaut syndrome community to come together and raise awareness in an effort to broaden the understanding of this rare form of epilepsy. LGS is a developmental brain disorder that frequently evolves from early-life-onset epilepsy and impacts approximately 48,000 children and adults in the U.S., making it a rare disease. However, no matter how rare the condition, it’s crucial to raise awareness for serious diseases like LGS to not only continue advocating for patients in need but also learn from those impacted by the condition, in order to understand and address the challenges those with LGS, their family members and caregivers may face on a daily basis. Ultimately, it provides an opportunity to shed light on the issues that patients with LGS experience and also provides an avenue to get the message out there in order to provide more information about this disorder, especially for those who are not properly diagnosed.
Yes, unfortunately, there still is a lack of awareness of LGS, and specifically, a lack of awareness when it comes to diagnosing the disorder. For context, LGS is a rare and severe form of childhood-onset epilepsy that can be one of the most difficult seizure disorders to diagnose and treat due to its complex symptoms. Since LGS has no single cause, symptoms are multiple and can change over time (such as generalized seizures, drop seizures, and delayed intellectual development). There is not yet a consensus within the medical community as to what constitutes a diagnosis of LGS. Therefore, HCPs may be hesitant and/or delayed in properly diagnosing a patient.
Additionally, it has also become clear that many physicians lack overall familiarity with LGS, and in some instances, neurologists were not even sure that they were caring for LGS patients, given they were unaware that the symptoms of LGS can change with age and evolve over time. That is why it is important to continue raising awareness on the condition to ensure LGS patients are properly diagnosed in a timely and effective matter.
Early and accurate diagnosis of LGS is essential for the optimization of treatment, management, and the overall improved prognosis of the condition. However, since LGS has signs and symptoms that overlap with other syndromes, establishing a proper diagnosis can be difficult and time-consuming. The condition, which is defined through a classic triad of symptoms, has no known biological markers. Additionally, not every patient shows the classic triad of symptoms in the early stages of the syndrome. However, with physical examination along with clinical diagnosis tools such as the Refractory Epilepsy Screening Tool for LGS (REST-LGS), physicians can make accurate confirmations of the diagnosis or possible diagnosis, that otherwise may be missed.
The Refractory Epilepsy Screening Tool for LGS (REST-LGS) is a diagnostic tool that can help healthcare providers accurately identify and help diagnose LGS. The tool was developed based on years of seeing patients experiencing seizures and other features, and recognizing key consistencies across cases in order to distinguish between LGS and refractory epilepsy. As I mentioned previously, early diagnosis of LGS is very important and can help patients and caregivers set informed decisions in treatment management. REST-LGS helps medical providers not only make a possible diagnosis but also opens up resources as well as new medical options that are available for the patient and family in order to properly manage the condition.
Transcript edited for clarity.