In the last few weeks, we’ve been collecting patient reports from AGS individuals and families about their experience with recurring disease flares (see Documenting and Characterizing AGS Triggers and their Consequences). We’ll be working to collect more responses before publishing a complete report, but some of the early insights are striking.
We find that many (if not most) AGS individuals experience regular flares (or increases in symptoms that individuals and/or parents attribute to AGS). The severity of consequences related to these flares and their regularity vary by individual, but the early data suggests a division in the community. Younger children and their families have higher confidence in their future health, but we need more reports to control for other variables. Recently diagnosed children have had earlier access to recent therapies, which may explain their higher levels of confidence and a less severe disease flares.
We believe this data offers the clinical and scientific communities novel insight into AGS and the need to address and manage periodic disease activity. If you’re an AGS individual or parent, we need your experiences to strengthen the usefulness of this information and forthcoming publication.
How often do you experience flares of various severity that you attribute to your AGS? Select the frequency that most closely reflects your experience.
A majority of our community reports impactful disease flares every few months. More than 50% report moderate and severe flares, defined as temporarily and permanently limiting previously acquired developmental skills, respectively. We see a striking confirmation of what the community has discussed anecdotally. We’re not aware of any literature exploring this perspective, so we intend to publish a comprehensive report as soon as possible.
A table displaying the percentage of AGS respondents (and total count) that experience flares of a specific severity (row) for the given frequency (column).
How confident are you that your overall health will improve this year?
We’ve also asked families their level of confidence in improving health. We observe relatively low confidence in the community, but there’s a suggestion that younger children treated with JAK inhibitors experience fewer and less severe flares with higher levels of confidence. It’s still difficult to draw conclusions with so few responses.
A table counting the number of patient responses to the survey question “How confident are you that your overall health will improve this year?”
A table counting the number of patient responses by age group and confidence level to the survey question “How confident are you that your overall health will improve this year?”
A table counting the number of patient responses by the medications taken by the individual and confidence level to the survey question “How confident are you that your overall health will improve this year?”