Featured Story: Standing Up for Juvenile-Onset HD

Jenna Heilman, HDYO Executive Director

JHD is ultra-rare, with an estimated five percent of all HD cases being classified as JHD. Receiving a diagnosis for these patients can be incredibly challenging for several reasons: there is a lack of awareness of JHD and how its symptoms can present very differently from adult-onset HD. Symptoms can be difficult to distinguish from another adolescent disease, syndrome or developmental disorder; and, there are significant ethical concerns regarding genetically testing a minor when their symptoms may not be related to HD.

Symptoms can include things as seemingly benign as having trouble with focusing at school to more severe symptoms like seizures and rigidity in movement. Together, this makes accurate estimation of disease onset, and in turn, the true prevalence of JHD, next to impossible.

Relatively few research efforts have focused on the experiences of both the JHD patient AND their caregivers. These families endure a tremendous burden in their day-to-day lives as they manage and cope with an advancing, debilitating disease while also often struggling with a lack of resources, knowledge, and support (both financial and services).

Over the past few years, the Huntington’s Disease Youth Organization (HDYO) has been strategizing how to begin understanding the global impact of JHD and how it has affected the core family. In February 2021, the Juvenile-onset Initiative for HD (JOIN-HD) began enrolling.

JOIN-HD is a global registry open to people who have symptoms of JHD and their caregivers, to provide information on those who are living and on loved ones who have passed. This will allow us to advocate for improvements to care, research and awareness. We hope this platform will encourage other scientists and clinicians to carry out much-needed research into this devastating disease.

Study Design

JOIN-HD is currently in Stage 1, which focuses on recruitment and collecting demographic information of participants. HDYO is in the process of developing Stage 2, including using an enhanced user interface and going through ethics approval in order to collect medical history and experiences. Stage 3 is still being realized and could focus on clinician-led interviews and further details into family history.