Rare Diseases

Biography

Biography: Emmanuelle Logette

Abstract

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder characterized by benign tumor growth including lesions in multiple organs and is associated with considerable disease burdens for patients and caregivers. Australia, UK and US recently all conducted surveys to evaluate the burden of the disease for TSC families and the unmet needs in their countries. Based on these existing surveys, our association (ASTB) developed a web-based questionnaire to evaluate the impact of the disease on both patients and caregivers in France. The questionnaire was specifically designed to be accessible for both patients and caregivers. To be as exhaustive as possible, all the mentioned topics were questioned: Manifestation of TSC, autonomy and fate, accessibility to healthcare system and welfare, impact on education, impact on professional orientation, costs, impact on caregivers health, impact on the partners and siblings and priority for researchers. We obtained a total of 390 responders with 29% being patients, 67% being caregivers and 4% being both patients and caregivers. This number represents almost 5% of the population affected by TSC in France, making this study as one of the most representative conducted so far. For the analysis, we sub-grouped responders according to age (4 groups) and severity of the disease: Slightly affected (52%), or severely affected (48%). As a first result, independently on the severity of the disease, TAND and epilepsy were found to be the greatest burden of the disease, in perfect agreement with the results of the surveys conducted in the other countries. In addition, the fate of the patient after their passing is also an important fear for caregivers. The access to TSC healthcare experts, high healthcare costs, impact on community or working life was also identified as important burdens among many others. For the first time in France, our association was able to estimate and quantify the unmet needs and burdens of both caregivers and patients living with TSC. Some needs are specific to our country as those related to social or school systems, but according to all responder comments, TSC burdens were summarized in 4 words : Isolation, unpredictability, complexity and never ending, that can reflect TSC burdens in any country around the world.